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Posted by on Jun 26, 2013 in Blog |

Does your GP/PCP Just Not Get It? The Thousand Faces Of Mastocytosis

Does your GP/PCP Just Not Get It? The Thousand Faces Of Mastocytosis

Do you want to share your thoughts about The Thousand Faces? Or let us know whether your doctor is more receptive after reading the article? Please head for the forum and let us know what's up.

Having That Feeling, Again?

Don't you feel embarrassed when YOU do know what's wrong with you, and when you go and see your GP/PCP to share your symptoms with him/her, your doctor looks at you and goes, like,

Yeah right …

Well, it seems this situation is a common challenge for mast cell disease sufferers. More so for females than for males, apparently.

Compassionate Mast Cell conditions experts from the University Of Toronto, who have come to deal with patient's misery day after day after day, consider this to be a real problem for patients. So much so that they have written an excellent paper to help redress the situation.

Enter the “Thousand Faces of Mastocytosis: Mistaken Medical Diagnoses, Patient Suffering & Gender Implications”, by Aysan Sev'er, University of Toronto, R. Gary Sibbald, University of Toronto & Women's College Hospital and Carrie D'Arville, Mastocytosis Society Canada. (Credit: University Of Toronto) (click on the name of the article to download it)

This is a must read, put-your-foot-down-and-force-your-doctor-to-read article. You should have it in your back pocket every time you visit your doctor. It is written BY doctors, FOR doctors.

When You Gotta, You Gotta

Believe me, download it and read it now. Although the paper contains several sorry accounts by patients, it will make you feel better as you'll realise that your doctor's attitude is not personally geared at you. Your doctor just applies the knowledge he/she acquired during his training.

I know, I know … you don't have the time to read a 29 page document …

Well, I've got news for you.

It’s YOUR Life

Unless you make the time to inform yourself about your own condition, no matter how much effort it takes, no-one else will.

Our GPs/PCPs have NOT had the benefit of studying mastocytosis. They don't even know it exists! They don't have the time to get to grips with it either.

Remember, mastocytosis is considered a RARE disease. Depending on which research you read, the mastocytosis prevalence ranges from 0.3 per 10,000 to 1 per 500,000! So, what's a busy GP to do, spend the time learning about one obscure condition which affects maybe 1 or 2 patients in their practice?

I think not. Do you?

So, sit down, download the thing and read. It's an easy read as well.

Will It Work?

Want to be sure this will help you convince your doctor? Here's the abstract of the paper:

The goals of this paper are to help a larger circle of medical professionals by creating greater awareness of Mastocytosis. Our focus is on the complexity and seriousness of the symptoms, and medical tests which are helpful in diagnosis. We include first hand experiences from 12 Mastocytosis patients who are long-term sufferers of this elusive but cruel malady. Finally, we will make recommendations to the medical community, as well as the Mastocytosis sufferers, about how to recognize and live with this disease. It is our sincere hope that our participants’ struggles and their experiences with Mastocytosis, as well as with their medical professionals, will improve the diagnostic process for Mastocytosis. It is also our sincere hope that the possible gender biases in dealing with female patients will be reduced or eradicated in the face of a plethora of Mastocytosis symptoms. It is not blame we seek, and we certainly do not wish to point fingers. Our aim is the creation of more accessible knowledge, faster diagnosis, mutual respect between patients and caregivers, and better ways of dealing with this frightening disorder.

Oh, and by-the-way, out of the 29 pages in the article, there are 10 pages of patient's testimonials and 2 and a half pages of references. And you've already read the one page abstract. So, only … hmmm … let's see … er … 15 1/2? Yeah, only 15 pages and a half to read, if you're strapped for time.

So, reading the stuff is not the end of the world. Get on with it. Print it, highlight the passages that you want your doctor to read, book a double appointment and ask him to read it.

Come on … You know you want to …

And please let us know how you got on with your doctor in the forum.  Any success?

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Posted by on Jun 24, 2013 in Uncategorized |

Video Tour

Welcome To The Me & My Mast Cells Site

Please watch this video tour, specially prepared to help you get the most out of our website.





Hello and welcome to this short video tutorial on how to use the website.

Introduction is a repository of information about mastocytosis.

This site is mainly intended for newly diagnosed patients, as information about mastocytosis is still scarce on the web.

However, for already diagnosed patients, the site aims to help you understand the medical concepts necessary to make sense of the medical research articles.

Poring over medical articles has become a necessity for patients of mastocytosis as, for this disease, the patient is very much in the driver’s seat, with the General Practitioner or Primary Care Physician becoming a trusted co-pilot.

We will keep updating the site with new medical research, news, explanations of medical concepts and the like.

Emergency Area

First things first, there is the emergency area, where you will find documentation you may require during emergency visits to the hospital.

There are two documents to guide you and your anesthetist on safe anesthesia practices for patients with mastocytosis, and two documents with guidance to ER personnel.

The emergency menu is conveniently located in the top middle menu position and highlighted in red.

Legal & Disclaimer

The next important item is the disclaimer, please do read it. It essentially says that, everything you read, see or hear on this site needs to be taken with a pinch of incredulity, and that I am not a doctor, and that you should talk to your doctor and yada, yada, yada.

You know the drill.

And also for legal purposes, let me point you to our contact form, privacy policy and notice to copyright holders, saying that if they believe that I have stretched the scope of fair use and posted something they dislike, that I’m very willing to take it down at their request.


Please note that this site has no commercial intent whatsoever, so there are no financial disclosures. We are not affiliated to anyone. As this is just a patient’s carer information repository, there are no conflicts of interest disclosures either.


Before I forget, let me point out that this site has an adjunct forum, where the topics are neatly organized so that your contributions are easily retrievable.

I encourage you to sign up and contribute to the forum, as forums are the best way to communicate between patients and carers alike.

Navigation Features

This site contains a lot of information. We have tried to make the navigation as easy as possible.

In order to expose as much content as possible on one page, we have divided navigation into three menu levels, top, middle and bottom. Some menu items will have sub menus.

Additionally, there is a category menu on posts other than the front page and each category leads you to separate areas of interest.

It is easy to believe that the front page is all there is, but this site has incredible depth to it, so we encourage you to browse around and enjoy the detail.

If at any time you wish to return to the Home Page, click on the prominent blue me & my mast cells title or on the grey home icon in the bread crumbs on every post.

The Glossary

One of the significant benefits of this site is the automated glossary feature. In any post, hover over the words underlined with dotted lines and a Netflix-like popup will appear giving you additional information about that word.

Most difficult medical terms are thereby hopefully de-mystified without disrupting your reading flow. We have tried to make the explanations as simple as possible.

At the time of launch, the automated glossary contains over 320 terms. We anticipate that it will grow to well over 800.


A picture is worth a thousand words.

A video is worth a million words.

A good descriptive video animation is priceless.

So we have made this site as media-rich as possible. There are over 40 videos and animations, along with numerous pictures. This number will grow considerably in the near future.


We have used a peculiar tone of voice which may offend some readers. Fear not, it’s not like Mickey Mouse peculiar. We have attempted to lighten the mood by being occasionally humorous, sarcastic or controversial.

This may not sit well with some of you. If you take umbrage, I hope you will see the wood for the trees and focus on the message rather than the delivery.

At no time do we mean to be glib or disrespectful. Believe me, we understand what you are going through and have the deepest respect for your ability to cope with this debilitating disease.

Top Menu : About This Site

If you are interested to know how this site came about, please read my partner’s Ann story. It is quite a typical (and eventful) scenario for mastocytosis sufferers.

As for my story, suffice it to say that never, ever, in my wildest dreams did I contemplate that I would be creating an information site on a rare disease, especially as I have not the slightest medical or scientific background or training.

Top Menu : FAQS

Please follow The FAQ link to get point answers to simple everyday questions you may have about this disease.

Top Menu : Resources

You will find a sub menu, offering a list of useful information sites, product sites and support sites.

Also, you will find alphabetical index of over 200 medical articles on, or related to, mastocytosis.

The abstracts of these articles are also available on the site, with the added-value benefit that the automated glossary makes the reading of these abstracts much easier for common mortals. For each abstract, there is a link to the full text, with a flag telling you whether the full text is available for a fee, or is available for free.

As medical articles are littered with abbreviations, we have collected the more common abbreviations and their explanation. This should be helpful if you read medical articles which are not on this site.

And lastly, a link to the site’s automated glossary is available

Center Menu : General

The center menu mirrors to some extent the home page.

The menu points to:

  • The Basics
    • Basic concepts needed to understand the condition
  • The Symptoms
    • Essentially, expect the unexpected
  • The Tests
    • What procedures are needed leading to …
  • The Diagnosis
  • The Treatments
    • Explains what the treatments are and how they work
  • The Drugs
    • Their use, and side effects
  • The Doctors
    • Doctors presumed to know how to treat the condition. We have not personally vetted these physicians and do not vouch for their capability. You should perform your own due diligence. A link is provided to the physicians profile, as well as the source of the referral, if one is available, and a link to the doctor’s publications, if they exist.
    • Clicking on each one of the menu items will bring up all the articles in that category, so expect a longer response time as the system collects all the articles.

Center Menu : Other

The Deep Dive menu will lead you to the following sections

  • Explain To Me (detailed posts on medical topics)
  • Genetics (an introduction to genetics)
  • Statistics 101 (an introduction to statistics)
  • Nutrition
  • Q&A (more detailed than FAQS, less detailed than Explain To Me)
  • News (medical research news)

Main Section Of Home Page

The main section of the home page shows, under each category, the individual articles which are available.

Clicking on one of the articles takes you to that specific topic. This is a much faster way to get to a topic of interest, rather than clicking on the category menu, as the latter will display all the articles in the category.

Below the main home page section, you will find a selection of featured videos. Followed by a selection of the most recent news articles.

Live Video Streaming

The site contains the necessary infrastructure to organize real-time video webinars using Google Hangouts. You do not need a Google account to participate.

If you believe you have a structured presentation or expertise in a particular area you’d like to present to members, please let us know and we can certainly facilitate this.

Please note that such presentations cannot be used to sell products or services. However, it is acceptable to introduce such products or services if they are ob clear benefit to members.

Guest Blog Contributions

We will gratefully accept guest contributions on any topic you may claim expertise on. As already mentioned, the mastocytosis topic is relatively new to us and we are still learning. We could do with much help to improve the content of the site. You would thereby be contributing to the education of those who do not yet have your level of expertise.


This concludes the brief tour of this site.

If you think this site could be of benefit to others, please share the site's information  on social media, using the appropriate buttons on each of the individual posts. Also, please join us on Facebook, Twitter or Google plus by clicking your preferred network in the top social media buttons.

Finally, please let me remind you of the forum. Unless you contribute to the patient community, through this  or any other forum, many of us will be left to our own devices.

Remember how it felt when you were in that situation. Please help.

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Posted by on Jun 21, 2013 in Uncategorized |

CD table

Approved Symbol Approved Name Previous Symbols Synonyms Chromosome
CD1A CD1a molecule CD1 1q22-q23
CD1B CD1b molecule CD1 1q22-q23
CD1C CD1c molecule CD1 1q22-q23
CD1D CD1d molecule 1q22-q23
CD1E CD1e molecule 1q22-q23
CD2 CD2 molecule SRBC 1p13
CD3D CD3d molecule, delta (CD3-TCR complex) T3D 11q23
CD3E CD3e molecule, epsilon (CD3-TCR complex) 11q23
CD3G CD3g molecule, gamma (CD3-TCR complex) 11q23
CD4 CD4 molecule 12p13.31
CD5 CD5 molecule LEU1 T1 11q13
CD6 CD6 molecule Tp120 11q12.2
CD7 CD7 molecule GP40, LEU-9, TP41, Tp40 17q25.2-q25.3
CD8A CD8a molecule CD8 2p12
CD8B CD8b molecule CD8B1 2p12
CD9 CD9 molecule MIC3 BA2, P24, TSPAN29, MRP-1 12p13
MME membrane metallo-endopeptidase CALLA, CD10, NEP 3q25.2
ITGAL integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) CD11A LFA-1 16p13.1-p11
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit) CR3A, CD11B MAC-1, CD11b 16p11.2
ITGAX integrin, alpha X (complement component 3 receptor 4 subunit) CD11C CD11c 16p11.2
ITGAD integrin, alpha D CD11d, ADB2 16p13.1-p11
ANPEP alanyl (membrane) aminopeptidase CD13, PEPN LAP1, gp150, p150 15q25-q26
CD14 CD14 molecule 5q31.3
FUT4 fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) CD15, FCT3A, ELFT FUC-TIV 11q21
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a) FCGR3, FCG3 CD16, CD16a 1q23
FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b) FCGR3, FCG3 CD16, CD16b 1q23
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) CD18, MFI7 LFA-1, MAC-1 21q22.3
CD19 CD19 molecule 16p11.2
MS4A1 membrane-spanning 4-domains, subfamily A, member 1 CD20 B1, Bp35, MS4A2 11q12-q13.1
CR2 complement component (3d/Epstein Barr virus) receptor 2 CD21 1q32
CD22 CD22 molecule SIGLEC-2, SIGLEC2 19q13.1
FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23) CD23A, FCE2 CLEC4J, CD23 19p13.3
CD24 CD24 molecule CD24A 6q21
IL2RA interleukin 2 receptor, alpha IL2R CD25 10p15-p14
DPP4 dipeptidyl-peptidase 4 CD26, ADCP2 DPPIV 2q23-qter
CD27 CD27 molecule TNFRSF7 S152, Tp55 12p13
CD28 CD28 molecule 2q33
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) FNRB, MSK12, MDF2 CD29, GPIIA 10p11.2
TNFRSF8 tumor necrosis factor receptor superfamily, member 8 CD30, D1S166E KI-1 1p36
TNFSF8 tumor necrosis factor (ligand) superfamily, member 8 CD30LG CD153 9q33
PECAM1 platelet/endothelial cell adhesion molecule 1 CD31 17q23.3
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32) FCG2, FCGR2A1, FCGR2 CD32, CD32A, IGFR2, CDw32 1q23
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32) FCG2, FCGR2 CD32, CD32B 1q23
FCGR2C Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) hFcRII-C, CD32C 1q23
CD33 CD33 molecule SIGLEC3, SIGLEC-3, p67, FLJ00391 19q13.3
SIGLEC6 sialic acid binding Ig-like lectin 6 CD33L, CD33L1 OB-BP1, SIGLEC-6, CD327 19q13.3
SIGLEC5 sialic acid binding Ig-like lectin 5 CD33L2 OB-BP2, SIGLEC-5, CD170 19q13.41
CD34 CD34 molecule 1q32
CR1 complement component (3b/4b) receptor 1 (Knops blood group) CD35, KN 1q32
CD36 CD36 molecule (thrombospondin receptor) SCARB3, GPIV, FAT, GP4, GP3B 7q11.2
CD37 CD37 molecule TSPAN26 19p13-q13.4
CD38 CD38 molecule 4p15.32
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 CD39 NTPDase-1, ATPDase 10q23.1-q24.1
CD40 CD40 molecule, TNF receptor superfamily member 5 TNFRSF5 p50, Bp50 20q12-q13.2
CD40LG CD40 ligand HIGM1, IMD3, TNFSF5 CD40L, TRAP, gp39, hCD40L, CD154 Xq26
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) GP2B CD41B, CD41 17q21.32
GP9 glycoprotein IX (platelet) CD42a, GPIX 3q21.3
GP1BA glycoprotein Ib (platelet), alpha polypeptide GP1B CD42b 17pter-p12
GP1BB glycoprotein Ib (platelet), beta polypeptide CD42c 22q11.21-q11.23
GP5 glycoprotein V (platelet) CD42d 3q29
SPN sialophorin LSN, CD43, GPL115 16p11.2
CD44 CD44 molecule (Indian blood group) MIC4, MDU2, MDU3 IN, MC56, Pgp1, CD44R, HCELL, CSPG8 11p13
PTPRC protein tyrosine phosphatase, receptor type, C CD45 LCA, T200, GP180 1q31-q32
CD46 CD46 molecule, complement regulatory protein MIC10, MCP TRA2.10, MGC26544, TLX 1q32
CD47 CD47 molecule MER6 IAP, OA3 3q13.1-q13.2
CD48 CD48 molecule BCM1 BLAST, mCD48, hCD48, SLAMF2 1q21.3-q22
ITGA1 integrin, alpha 1 VLA1, CD49a 5q11.1
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) CD49B CD49b 5q11.2
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) MSK18 CD49c, VLA3a, VCA-2, GAP-B3 17q21.33
ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) CD49D CD49d 2q31-q32
ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide) FNRA CD49e 12q11-q13
ITGA6 integrin, alpha 6 CD49f 2q31.1
ICAM3 intercellular adhesion molecule 3 CDW50, ICAM-R, CD50 19p13.3-p13.2
ITGAV integrin, alpha V VNRA, MSK8, VTNR CD51 2q31-q32
CD52 CD52 molecule CDW52 1p36
CD53 CD53 molecule MOX44 TSPAN25 1p13
ICAM1 intercellular adhesion molecule 1 BB2, CD54 19p13.3-p13.2
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group) DAF CR, TC, CROM 1q32
NCAM1 neural cell adhesion molecule 1 NCAM, CD56 11q23.2
B3GAT1 beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) CD57, LEU7 GlcAT-P, HNK-1, NK-1 11q25
CD58 CD58 molecule LFA3 1p13
CD59 CD59 molecule, complement regulatory protein MIC11, MIN1, MSK21, MIN2, MIN3 16.3A5, EJ16, EJ30, EL32, G344, p18-20 11p13
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) GP3A CD61, GPIIIa 17q21.32
SELE selectin E ELAM1, ELAM ESEL, CD62E 1q22-q25
SELL selectin L LYAM1, LNHR LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L 1q23-q25
SELP selectin P (granule membrane protein 140kDa, antigen CD62) GRMP CD62, PSEL, PADGEM, GMP140, CD62P 1q22-q25
CD63 CD63 molecule MLA1 ME491, TSPAN30 12q12-q13
FCGR1A Fc fragment of IgG, high affinity Ia, receptor (CD64) CD64, CD64A 1q21.2-q21.3
CEACAM1 carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) BGP BGP1, CD66a 19q13.2
CEACAM8 carcinoembryonic antigen-related cell adhesion molecule 8 CGM6 CD66b 19q13.2
CEACAM6 carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) NCA CD66c 19q13.1-q13.2
CEACAM3 carcinoembryonic antigen-related cell adhesion molecule 3 CGM1 CD66d 19q13.2
CEACAM5 carcinoembryonic antigen-related cell adhesion molecule 5 CEA CD66e 19q13.1-q13.2
PSG1 pregnancy specific beta-1-glycoprotein 1 PSBG1 PSGGA, CD66f, PBG1 19q13.2
CD68 CD68 molecule SCARD1, macrosialin, GP110, DKFZp686M18236, LAMP4 17p13
CD69 CD69 molecule CLEC2C 12p13
CD70 CD70 molecule CD27LG, TNFSF7 CD27L 19p13
TFRC transferrin receptor (p90, CD71) CD71, TFR1 3q26.2-qter
CD72 CD72 molecule LYB2, CD72b 9p
NT5E 5′-nucleotidase, ecto (CD73) NT5 CD73, eN, eNT 6q14-q21
CD74 CD74 molecule, major histocompatibility complex, class II invariant chain DHLAG 5q32
CD79A CD79a molecule, immunoglobulin-associated alpha IGA MB-1 19q13.2
CD79B CD79b molecule, immunoglobulin-associated beta IGB B29 17q23
CD80 CD80 molecule CD28LG, CD28LG1 B7.1, B7-1 3q13.3-q21
CD81 CD81 molecule TAPA1 TAPA-1, TSPAN28 11pter-p11.2
IGSF8 immunoglobulin superfamily, member 8 CD81P3, EWI2, PGRL, CD316 1q23.1
CD82 CD82 molecule ST6, KAI1 R2, IA4, TSPAN27 11p11.2
CD83 CD83 molecule HB15, BL11 6p23
CD84 CD84 molecule SLAMF5, hCD84, mCD84 1q24
LILRB3 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 LIR-3, HL9, ILT5, LIR3, CD85a 19q13.4
LILRA6 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 LILRB6 ILT8, CD85b 19q13.4
LILRB5 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 LIR-8, LIR8, CD85c 19q13.4
LILRB2 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10 19q13.4
LILRA3 leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 LIR-4, HM43, ILT6, HM31, LIR4, CD85e 19q13.4
LILRA5 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 LILRB7 ILT11, LIR9, CD85, CD85f 19q13.4
LILRA4 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 ILT7, CD85g 19q13.4
LILRA2 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 LIR-7, ILT1, CD85h, LIR7 19q13.4
LILRA1 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 LIR-6, CD85i, LIR6 19q13.4
LILRB1 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j 19q13.4
LILRB4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 LIR-5, ILT3, HM18, LIR5, CD85k 19q13.4
LILRP1 leukocyte immunoglobulin-like receptor pseudogene 1 ILT9, CD85l, LILRA6P 19q13.4
LILRP2 leukocyte immunoglobulin-like receptor pseudogene 2 ILT10, CD85m 19q13.4
CD86 CD86 molecule CD28LG2 B7.2, B7-2 3q21
PLAUR plasminogen activator, urokinase receptor URKR, UPAR, CD87 19q13
C5AR1 complement component 5a receptor 1 C5R1 C5A, C5AR, CD88 19q13.3-q13.4
FCAR Fc fragment of IgA, receptor for CD89 19q13.42
THY1 Thy-1 cell surface antigen CD90 11q23.3
LRP1 low density lipoprotein receptor-related protein 1 APR, A2MR LRP, CD91, LRP1A, APOER 12q13.3
SLC44A1 solute carrier family 44, member 1 CDW92 CDw92, CTL1, CHTL1, CD92 9q31.2
CD93 CD93 molecule MXRA4, C1QR1 C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3 20p11.21
KLRD1 killer cell lectin-like receptor subfamily D, member 1 CD94 12p13
FAS Fas cell surface death receptor FAS1, APT1, TNFRSF6 CD95, APO-1 10q24.1
CD96 CD96 molecule TACTILE 3p13-q13.2
CD97 CD97 molecule TM7LN1 19p13
SLC7A5 solute carrier family 7 (amino acid transporter light chain, L system), member 5 LAT1, E16, D16S469E, MPE16, CD98 16q24.3
CD99 CD99 molecule MIC2 Xp22.32 and Yp11.3
SEMA4D sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D SEMAJ, C9orf164 CD100, coll-4, FLJ39737 9q22-q31
CD101 CD101 molecule IGSF2 V7 1p13
ICAM2 intercellular adhesion molecule 2 CD102 17q23.3
ITGAE integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) CD103, HUMINAE 17p13
ITGB4 integrin, beta 4 CD104 17q11-qter
ENG endoglin ORW1, ORW END, HHT1, CD105 9q34.11
VCAM1 vascular cell adhesion molecule 1 CD106 1p32-p31
LAMP1 lysosomal-associated membrane protein 1 CD107a 13q34
LAMP2 lysosomal-associated membrane protein 2 CD107b Xq24-q25
SEMA7A semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) SEMAL H-Sema-L, CD108 15q22.3-q23
CD109 CD109 molecule FLJ38569, DKFZp762L1111, CPAMD7 6q14.1
MPL myeloproliferative leukemia virus oncogene CD110, TPOR 1p34
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C) HVEC, ED4 PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7 11q23-q24
PVRL2 poliovirus receptor-related 2 (herpesvirus entry mediator B) HVEB PVRR2, PRR2, CD112 19q13.32
PVRL3 poliovirus receptor-related 3 nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113 3q13
CSF3R colony stimulating factor 3 receptor (granulocyte) CD114 GCSFR 1p35-p34.3
CSF1R colony stimulating factor 1 receptor FMS C-FMS, CSFR, CD115 5q32
CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) CSF2R CD116 Xp22.32 and Yp11.3
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog PBT CD117, SCFR, C-Kit 4q11-q12
LIFR leukemia inhibitory factor receptor alpha CD118 5p13-p12
IFNGR1 interferon gamma receptor 1 IFNGR CD119 6q23-q24
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A TNFR1 TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55 12p13.2
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B TNFR2 TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b 1p36.22
IL1R1 interleukin 1 receptor, type I IL1R, IL1RA D2S1473, CD121A 2q12
IL1R2 interleukin 1 receptor, type II IL1RB CD121b 2q12
IL2RB interleukin 2 receptor, beta IL15RB CD122 22q13
IL3RA interleukin 3 receptor, alpha (low affinity) CD123 Xp22.3 and Yp13.3
IL4R interleukin 4 receptor CD124 16p12.1-p11.2
IL5RA interleukin 5 receptor, alpha IL5R CDw125, CD125 3p26-p24
IL6R interleukin 6 receptor CD126 1q21
IL7R interleukin 7 receptor CD127 5p13
CXCR1 chemokine (C-X-C motif) receptor 1 CMKAR1, IL8RA CKR-1, CDw128a, CD181 2q35
IL9R interleukin 9 receptor CD129 Xq28 and Yq12
IL6ST interleukin 6 signal transducer (gp130, oncostatin M receptor) GP130, CD130 5q11.2
CSF2RB colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) IL3RB IL5RB, CD131 22q12.2-q13.1
IL2RG interleukin 2 receptor, gamma SCIDX1, IMD4, CIDX CD132 Xq13
PROM1 prominin 1 PROML1, MCDR2, STGD4 AC133, CD133, RP41, CORD12 4p15
TNFRSF4 tumor necrosis factor receptor superfamily, member 4 TXGP1L ACT35, OX40, CD134 1p36
FLT3 fms-related tyrosine kinase 3 STK1, FLK2, CD135 13q12
MST1R macrophage stimulating 1 receptor (c-met-related tyrosine kinase) RON, PTK8 CDw136, CD136 3p21
TNFRSF9 tumor necrosis factor receptor superfamily, member 9 ILA CD137, 4-1BB 1p36
SDC1 syndecan 1 SDC CD138, syndecan, SYND1 2p24.1
PDGFRA platelet-derived growth factor receptor, alpha polypeptide CD140a, PDGFR2 4q12
PDGFRB platelet-derived growth factor receptor, beta polypeptide PDGFR JTK12, CD140b, PDGFR1 5q33.1
THBD thrombomodulin CD141 20p12-cen
F3 coagulation factor III (thromboplastin, tissue factor) CD142 1p22-p21
ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 DCP1 ACE1, CD143 17q23.3
CDH5 cadherin 5, type 2 (vascular endothelium) 7B4, CD144 16q22.1
MCAM melanoma cell adhesion molecule MUC18, CD146 11q23.3
BSG basigin (Ok blood group) OK EMMPRIN, CD147 19p13.3
PTPRJ protein tyrosine phosphatase, receptor type, J DEP1, HPTPeta, CD148 11p11.2
SLAMF1 signaling lymphocytic activation molecule family member 1 SLAM CD150 1q23.3
CD151 CD151 molecule (Raph blood group) SFA-1, PETA-3, TSPAN24, RAPH 11p15.5
CTLA4 cytotoxic T-lymphocyte-associated protein 4 CELIAC3 CD152, CD, GSE, CD28, ICOS 2q33
PVR poliovirus receptor PVS CD155, HVED, Necl-5, NECL5, Tage4 19q13.2
ADAM8 ADAM metallopeptidase domain 8 CD156, MS2 10q26.3
ADAM17 ADAM metallopeptidase domain 17 TACE cSVP, CD156B 2p25
ADAM10 ADAM metallopeptidase domain 10 kuz, MADM, HsT18717, CD156c 15q2
BST1 bone marrow stromal cell antigen 1 CD157 4p15
KIR2DL1 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 cl-42, nkat1, 47.11, p58.1, CD158A 19q13.4
KIR2DL2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 cl-43, nkat6, CD158B1, CD158k 19q13.4 GRCh37 novel patch
KIR2DL3 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2 19q13.4
KIR3DP1 killer cell immunoglobulin-like receptor, three domains, pseudogene 1 KIRX, KIR48, KIR2DS6, KIR3DS2P, CD158C 19q13.4
KIR2DL4 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 103AS, 15.212, CD158D 19q13.4
KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 KIR cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158e1, CD158e2 19q13.4
KIR2DL5A killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A KIR2DL5.1, KIR2DL5, CD158F 19q13.4 GRCh37 novel patch
KIR2DS5 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 nkat9, CD158G 19q13.4 GRCh37 novel patch
KIR2DS1 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 EB6ActI, EB6ActII, CD158H 19q13.4 GRCh37 novel patch
KIR2DS4 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 cl-39, KKA3, nkat8, CD158i 19q13.4
KIR2DS2 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 cl-49, nkat5, 183ActI, CD158J 19q13.4 GRCh37 novel patch
KIR3DL2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 cl-5, nkat4, nkat4a, nkat4b, CD158K 19q13.4
KIR3DL3 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 KIRC1, KIR3DL7, KIR44, CD158z 19q13.4
KLRC1 killer cell lectin-like receptor subfamily C, member 1 NKG2 NKG2-A, NKG2-B, CD159a 12p13
KLRC2 killer cell lectin-like receptor subfamily C, member 2 NKG2-C, CD159c 12p13
CD160 CD160 molecule BY55, NK1, NK28 1q21.2
KLRB1 killer cell lectin-like receptor subfamily B, member 1 NKR CD161, NKR-P1, NKR-P1A, hNKR-P1A, CLEC5B 12p13
SELPLG selectin P ligand PSGL-1, CD162 12q24
CD163 CD163 molecule M130, MM130 12p13
CD164 CD164 molecule, sialomucin MUC-24, MGC-24 6q21
ALCAM activated leukocyte cell adhesion molecule CD166, MEMD 3q13.1
DDR1 discoidin domain receptor tyrosine kinase 1 NTRK4, PTK3A, NEP, CAK, EDDR1 RTK6, CD167 6p21.33
HMMR hyaluronan-mediated motility receptor (RHAMM) RHAMM, CD168 5q33.2-qter
SIGLEC1 sialic acid binding Ig-like lectin 1, sialoadhesin SN SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin 20p13
L1CAM L1 cell adhesion molecule HSAS1, SPG1, HSAS, MASA, MIC5, S10 CD171 Xq28
SIRPA signal-regulatory protein alpha PTPNS1 SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1 20p13
SIRPB1 signal-regulatory protein beta 1 SIRP-BETA-1, CD172b 20p13
SIRPG signal-regulatory protein gamma SIRPB2 bA77C3.1, SIRP-B2, SIRPgamma, CD172g 20p13
FUT3 fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) LE CD174 19p13.3
CD177 CD177 molecule PRV1, HNA2A, NB1 19q13.2
FASLG Fas ligand (TNF superfamily, member 6) APT1LG1, TNFSF6 FasL, CD178 1q23
VPREB1 pre-B lymphocyte 1 VpreB, CD179A 22q11.2
IGLL1 immunoglobulin lambda-like polypeptide 1 IGLL IGVPB, IGL5, 14.1, CD179B 22q11.23
CD180 CD180 molecule LY64 RP105, Ly78 5q12
CXCR2 chemokine (C-X-C motif) receptor 2 IL8RB CMKAR2, CD182 2q35
CXCR3 chemokine (C-X-C motif) receptor 3 GPR9 CKR-L2, CMKAR3, IP10-R, MigR, CD183 Xq13
CXCR4 chemokine (C-X-C motif) receptor 4 LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184 2q21
CXCR5 chemokine (C-X-C motif) receptor 5 BLR1 MDR15, CD185 11q23.3
CXCR6 chemokine (C-X-C motif) receptor 6 TYMSTR, STRL33, BONZO, CD186 3p21
CCR1 chemokine (C-C motif) receptor 1 SCYAR1, CMKBR1 CKR-1, MIP1aR, CD191 3p21
CCR2 chemokine (C-C motif) receptor 2 CMKBR2 CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302 3p21
CCR3 chemokine (C-C motif) receptor 3 CMKBR3 CC-CKR-3, CKR3, CD193 3p21.3
CCR4 chemokine (C-C motif) receptor 4 CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194 3p24-p21.3
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene) CMKBR5 CKR-5, CC-CKR-5, CKR5, CD195, IDDM22 3p21
CCR6 chemokine (C-C motif) receptor 6 STRL22 CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196 6q27
CCR7 chemokine (C-C motif) receptor 7 CMKBR7, EBI1 BLR2, CDw197, CD197 17q12-q21.2
CCR8 chemokine (C-C motif) receptor 8 CMKBRL2, CMKBR8 CY6, TER1, CKR-L1, GPR-CY6, CDw198 3p22
CCR9 chemokine (C-C motif) receptor 9 GPR28 GPR-9-6, CDw199 3p21.31
CD200 CD200 molecule MOX1, MOX2 MRC, OX-2 3
PROCR protein C receptor, endothelial EPCR, CCD41, CD201 20q11.2
TEK TEK tyrosine kinase, endothelial VMCM TIE2, TIE-2, VMCM1, CD202b 9p21
ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 PDNP3 PD-IBETA, gp130RB13-6, B10, CD203c 6q22
MSR1 macrophage scavenger receptor 1 SCARA1, CD204 8p22
LY75 lymphocyte antigen 75 DEC-205, CLEC13B, CD205 2q24
MRC1 mannose receptor, C type 1 MRC1L1 CLEC13D, CD206, bA541I19.1, CLEC13DL 10p13
CD207 CD207 molecule, langerin Langerin, CLEC4K 2p13
LAMP3 lysosomal-associated membrane protein 3 LAMP, TSC403, DC-LAMP, DCLAMP, CD208 3q26.3-q27
CD209 CD209 molecule DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L 19p13
CLEC4M C-type lectin domain family 4, member M CD209L, CD299 HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2 19p13
IL10RA interleukin 10 receptor, alpha IL10R HIL-10R, CDW210A, CD210a, CD210 11q23
IL12RB1 interleukin 12 receptor, beta 1 IL12RB CD212 19p13.1
IL13RA1 interleukin 13 receptor, alpha 1 IL-13Ra, NR4, CD213a1 Xq24
IL13RA2 interleukin 13 receptor, alpha 2 IL-13R, IL13BP, CD213a2, CT19 Xq13.1-q28
IL15RA interleukin 15 receptor, alpha CD215, IL-15RA 10p15.1
IL17RA interleukin 17 receptor A IL17R hIL-17R, IL-17RA, CDw217, CD217 22q11.1
IL18R1 interleukin 18 receptor 1 IL1RRP, IL-1Rrp, CD218a 2q12
IL18RAP interleukin 18 receptor accessory protein AcPL, CD218b 2q12.1
INSR insulin receptor CD220 19p13.3-p13.2
IGF1R insulin-like growth factor 1 receptor JTK13, CD221, IGFIR, MGC18216, IGFR 15q26.3
IGF2R insulin-like growth factor 2 receptor CD222, MPRI, MPR1, CIMPR, M6P-R 6q25-q27
LAG3 lymphocyte-activation gene 3 CD223 12p13.3
GGT1 gamma-glutamyltransferase 1 GGT D22S672, D22S732, CD224 22q11.23
IFITM1 interferon induced transmembrane protein 1 IFI17 9-27, CD225 11p15.5
CD226 CD226 molecule DNAM-1, DNAM1, PTA1, TLiSA1 18q22.3
MUC1 mucin 1, cell surface associated PUM CD227, PEM 1q22
MFI2 antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 CD228, FLJ38863, MAP97, MGC4856, MTF1 3q28-q29
LY9 lymphocyte antigen 9 CD229, mLY9, SLAMF3, hly9 1q23.3
PRNP prion protein PRIP, GSS, CJD CD230, PRP, AltPrP 20p13
TSPAN7 tetraspanin 7 MXS1, TM4SF2, MRX58 DXS1692E, TALLA-1, A15, CD231 Xp11.4
PLXNC1 plexin C1 VESPR, CD232 12q23
SLC4A1 solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) EPB3, AE1, DI, WD RTA1A, CD233, FR, SW, WR 17q21.31
DARC Duffy blood group, chemokine receptor FY CCBP1, GPD, Dfy, CD234 1q21-q22
GYPA glycophorin A (MNS blood group) MNS GPA, MN, CD235a 4q31.21
GYPB glycophorin B (MNS blood group) MNS GPB, SS, CD235b 4q31.21
GYPC glycophorin C (Gerbich blood group) GPC, GYPD, Ge, CD236, CD236R 2q14-q21
KEL Kell blood group, metallo-endopeptidase ECE3, CD238 7q33
BCAM basal cell adhesion molecule (Lutheran blood group) LU CD239 19q12-q13
RHCE Rh blood group, CcEe antigens RH CD240CE 1p36.11
RHD Rh blood group, D antigen RH Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D 1p36.11
RHAG Rh-associated glycoprotein RH50A, CD241, SLC42A1 6p12.3
ICAM4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) LW CD242 19p13.2-cen
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 PGY1, MDR1, CLCS P-gp, CD243, GP170, ABC20 7q21.12
CD244 CD244 molecule, natural killer cell receptor 2B4 2B4, NAIL, NKR2B4, Nmrk, SLAMF4 1q23.1
ALK anaplastic lymphoma receptor tyrosine kinase CD246 2p23
CD247 CD247 molecule CD3Z CD3H, CD3Q 1q24.2
CD248 CD248 molecule, endosialin CD164L1 TEM1 11q13
ENPEP glutamyl aminopeptidase (aminopeptidase A) gp160, CD249 4q25
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4 TXGP1 OX-40L, gp34, CD252 1q25
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 TRAIL, Apo-2L, TL2, CD253 3q26
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 TRANCE, RANKL, OPGL, ODF, CD254 13q14
TNFSF13 tumor necrosis factor (ligand) superfamily, member 13 APRIL, CD256 17p13.1
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b TNFSF20 BAFF, THANK, BLYS, TALL-1, TALL1, CD257 13q32-q34
TNFSF14 tumor necrosis factor (ligand) superfamily, member 14 LIGHT, LTg, HVEM-L, CD258 19p13.3
TNFRSF10A tumor necrosis factor receptor superfamily, member 10a DR4, Apo2, TRAILR-1, CD261 8p21
TNFRSF10B tumor necrosis factor receptor superfamily, member 10b DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262 8p22-p21
TNFRSF10C tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain DcR1, TRAILR3, LIT, TRID, CD263 8p22-p21
TNFRSF10D tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain DcR2, TRUNDD, TRAILR4, CD264 8p21
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator RANK, CD265 18q22.1
TNFRSF12A tumor necrosis factor receptor superfamily, member 12A FN14, TweakR, CD266 16p13.3
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B TACI, CD267 17p11.2
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C BAFFR, CD268 22q13.1-q13.3
TNFRSF17 tumor necrosis factor receptor superfamily, member 17 BCMA BCM, CD269, TNFRSF13A 16p13.1
TNFRSF14 tumor necrosis factor receptor superfamily, member 14 HVEM, ATAR, TR2, LIGHTR, HVEA, CD270 1p36.32
NGFR nerve growth factor receptor TNFRSF16, CD271, p75NTR 17q21-q22
BTLA B and T lymphocyte associated BTLA1, CD272 3q13.2
PDCD1LG2 programmed cell death 1 ligand 2 PD-L2, Btdc, PDL2, bA574F11.2, CD273, B7-DC 9p24.2
CD274 CD274 molecule PDCD1LG1 B7-H, B7H1, PD-L1, PDL1, B7-H1 9p24.1
ICOSLG inducible T-cell co-stimulator ligand ICOSL KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275 21q22.3
CD276 CD276 molecule B7-H3, B7H3, B7RP-2 15q23-q24
BTN3A1 butyrophilin, subfamily 3, member A1 BT3.1, BTF5, CD277 6p22.1
ICOS inducible T-cell co-stimulator AILIM, CD278 2q33
PDCD1 programmed cell death 1 CD279, PD1 2q37.3
MRC2 mannose receptor, C type 2 KIAA0709, ENDO180, CLEC13E, CD280 17q23
TLR1 toll-like receptor 1 rsc786, KIAA0012, CD281 4p14
TLR2 toll-like receptor 2 TIL4, CD282 4q32
TLR3 toll-like receptor 3 CD283 4q35
TLR4 toll-like receptor 4 hToll, CD284, TLR-4, ARMD10 9q33.1
TLR6 toll-like receptor 6 CD286 4p16.1
TLR8 toll-like receptor 8 CD288 Xp22
TLR9 toll-like receptor 9 CD289 3p21.3
TLR10 toll-like receptor 10 CD290 4p14
BMPR1A bone morphogenetic protein receptor, type IA ACVRLK3 ALK3, CD292 10q22.3
BMPR1B bone morphogenetic protein receptor, type IB ALK6, CDw293 4q23-q24
PTGDR2 prostaglandin D2 receptor 2 GPR44 CRTH2, CD294, DP2 11q12-q13.3
LEPR leptin receptor OBR, CD295 1p31
ART1 ADP-ribosyltransferase 1 ART2, CD296 11p15
ART4 ADP-ribosyltransferase 4 (Dombrock blood group) DO DOK1, CD297 12q13.2-q13.3
ATP1B3 ATPase, Na+/K+ transporting, beta 3 polypeptide FLJ29027, CD298 3q23
CD300A CD300a molecule Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12 17q25.2
CD300C CD300c molecule CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16 17q25.2
CD300E CD300e molecule CD300LE IREM2, CLM2 17q25.1
CLEC10A C-type lectin domain family 10, member A CLECSF13, CLECSF14 HML2, HML, CD301 17p13.2
CD302 CD302 molecule DCL-1, KIAA0022, BIMLEC, CLEC13A 2q24.2
CLEC4C C-type lectin domain family 4, member C CLECSF11, CLECSF7 HECL, DLEC, BDCA2, CD303 12p13.2-p12.3
NRP1 neuropilin 1 NRP, VEGF165R, CD304 10p12
LAIR1 leukocyte-associated immunoglobulin-like receptor 1 CD305 19q13.4
LAIR2 leukocyte-associated immunoglobulin-like receptor 2 CD306 19q13.4
FCRL1 Fc receptor-like 1 FCRH1, IRTA5, IFGP1, CD307a 1q21-q22
FCRL2 Fc receptor-like 2 SPAP1 FCRH2, IRTA4, CD307b 1q23.1
FCRL3 Fc receptor-like 3 FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c 1q21-q22
FCRL4 Fc receptor-like 4 FCRH4, IRTA1, IGFP2, CD307d 1q21
FCRL5 Fc receptor-like 5 FCRH5, IRTA2, BXMAS1, CD307e 1q21
KDR kinase insert domain receptor (a type III receptor tyrosine kinase) FLK1, VEGFR, VEGFR2, CD309 4q11-q12
EMR2 egf-like module containing, mucin-like, hormone receptor-like 2 CD312 19p13.1
KLRK1 killer cell lectin-like receptor subfamily K, member 1 D12S2489E NKG2D, KLR, NKG2-D, CD314 12p13.2-p12.3
PTGFRN prostaglandin F2 receptor inhibitor FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315 1p13.1
BST2 bone marrow stromal cell antigen 2 CD317, tetherin 19p13.2
CDCP1 CUB domain containing protein 1 CD318, SIMA135 3p21.3
SLAMF7 SLAM family member 7 CRACC, 19A, CS1, CD319 1q23.1-q24.1
CD320 CD320 molecule 8D6, 8D6A 19p13.3-p13.2
F11R F11 receptor JAM1 PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321 1q21.2-q21.3
JAM2 junctional adhesion molecule 2 C21orf43 VE-JAM, JAM-B, JAMB, CD322 21q21.2
CDH1 cadherin 1, type 1, E-cadherin (epithelial) UVO uvomorulin, CD324 16q22.1
CDH2 cadherin 2, type 1, N-cadherin (neuronal) NCAD CDHN, CD325 18q12.1
EPCAM epithelial cell adhesion molecule M4S1, MIC18, TACSTD1 Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA 2p21
SIGLEC7 sialic acid binding Ig-like lectin 7 SIGLEC19P, SIGLECP2 SIGLEC-7, p75/AIRM1, QA79, CD328 19q13.3
SIGLEC9 sialic acid binding Ig-like lectin 9 CD329 19q13.3-q13.4
FGFR1 fibroblast growth factor receptor 1 FLT2, KAL2 H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331 8p12
FGFR2 fibroblast growth factor receptor 2 KGFR, BEK, CFD1, JWS CEK3, TK14, TK25, ECT1, K-SAM, CD332 10q25.3-q26
FGFR3 fibroblast growth factor receptor 3 ACH CEK2, JTK4, CD333 4p16.3
FGFR4 fibroblast growth factor receptor 4 JTK2, CD334 5q33-qter
NCR1 natural cytotoxicity triggering receptor 1 LY94 NK-p46, NKP46, CD335 19
NCR2 natural cytotoxicity triggering receptor 2 LY95 NK-p44, CD336 6p21.1
NCR3 natural cytotoxicity triggering receptor 3 LY117 1C7, NKp30, CD337 6p21.3
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 EST157481, MXR, BCRP, ABCP, CD338 4q22.1
JAG1 jagged 1 AGS, JAGL1 AHD, AWS, HJ1, CD339 20p12.1-p11.23
ERBB2 v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) NGL NEU, HER-2, CD340, HER2 17q11.2-q12
FZD4 frizzled family receptor 4 EVR1 CD344 11q14-q21
FZD9 frizzled family receptor 9 FZD3, CD349 7q11.23
FZD10 frizzled family receptor 10 CD350 12q24.33
FCAMR Fc receptor, IgA, IgM, high affinity FKSG87, FCA/MR, CD351 1q32.1
SLAMF6 SLAM family member 6 KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352 1q23.1
SLAMF8 SLAM family member 8 BLAME, SBBI42, CD353 1q23.1
TREM1 triggering receptor expressed on myeloid cells 1 TREM-1, CD354 6p21.1
CRTAM cytotoxic and regulatory T cell molecule CD355 11q24.1
TNFRSF18 tumor necrosis factor receptor superfamily, member 18 AITR, GITR, CD357 1p36.3
TNFRSF21 tumor necrosis factor receptor superfamily, member 21 DR6, CD358 6p21.1
IL21R interleukin 21 receptor CD360 16p11
EVI2B ecotropic viral integration site 2B D17S376, EVDB, CD361 17q11.2
SDC2 syndecan 2 HSPG, HSPG1 fibroglycan, SYND2, CD362 8q22-q23
S1PR1 sphingosine-1-phosphate receptor 1 EDG1 edg-1, D1S3362, CD363 1p21
CXCR7 chemokine (C-X-C motif) receptor 7 CMKOR1 RDC1, GPR159 2q37.3
IL10RB interleukin 10 receptor, beta CRFB4, D21S58, D21S66 CRF2-4, CDW210B, IL-10R2 21q22.11
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Posted by on Jun 21, 2013 in Q & A |

What Is The c-KIT Mutation?

Still having trouble with the c-KIT mutation?? You're not the only one! Please head for the Masto Townhall forum to find the answers.

Whoa, Tiger, Steady On …

If you are unfamiliar with genetics, this may be a bit difficult to grasp out-of-context. Maybe you'd want to review the genetics stuff in the post How Can I Learn Genetics? first.

But if you are in a hurry, just watch this video as a necessary prerequisite to what follows; pay particular attention to the sentence at 01:43 to 01:46  and the explanation about when someone says you have your father's hair  at 02:01 to 02:17


Do I Look Fat In These Genes?

The important bits in the above clip are the following:

  • The complete set of instructions to make your body work is located in the nucleus of every single cell.
  • Every cell has one copy of the same set of instruction, called DNA.
  • DNA is long molecule, formed like a ladder.
    • The vertical rails (or styles if you're in the UK)  are composed of two long strands of sugar and phosphate.
    • Each of the horizontal rungs is made of two pieces,  linked in the middle. Those two pieces are called bases.
  • There are four types of bases, each type is represented by the letter A or T or C or  G
  • Every rung between the rails can be formed of any 2 types of bases, for example AT or CG or TA or GC
  • There's about 98% of the DNA we don't know what it is  for, and (at the time of writing) is believed to be junk.
  • There's 2% of the DNA which actually contains the necessary instructions, by way of the letter-coded rungs.
  • The contents of these 2% of the DNA are called the genes.
  • We have about 20,000 genes in our body
  • While ALL the genes are present in ALL the cells, only certain genes are switched ON for a specific cell type. So,
    • a blood cell will have a specific set of genes ON,
    • a skin cell will have a different set of genes ON,
    • a brain cell will have yet another set of genes ON… You get the picture
  • Genes tell a cell how to function, they tell the cell how to manufacture individual cell pieces called proteins
  • Now, go to a cell's DNA, pick one of the genes which is ON and climb that gene's DNA ladder while calling the letters on each of the rungs.
  • The sequence of letters you'll be calling is the recipe that tells the cell how to make a specific protein.

I’m Confused …

Well, OK. Just forget everything we've said, except:

  • Genes tell a cell how to function
  • A gene contains the instructions to manufacture a protein
  • The way that the gene tells the cell how to manufacture a protein is by reading the letters on the rungs of the gene's DNA ladder
  • The sequence of the letters is all important, much in the same way that the sequence of letters are important to write words. If the letters get jumbled, the words can change meaning or be meaningless altogether.

Meet Billy The Kid

Now, who's is that kid we're all talking about? Is it a juvenile delinquent?

No. The kid in question is actually called c-KIT. And it is actually the name of a gene. The c-KIT gene.

But wait, there's more!

Remember that genes are instructions to create proteins. So, once we've run the c-KIT gene instructions, we manufacture a cell product. That product is called the c-KIT protein.

The Devil Has Many Names

The c-KIT protein is variously called by different names, like

  • Mast/stem cell growth factor receptor
  • SCFR
  • proto-oncogene c-Kit
  • tyrosine-protein kinase Kit
  • CD117
  • c-KIT receptor

Go figure! Why make it easy when you can make it complicated?

Have We Met Before?

You may remember we've already talked about the c-KIT receptor in the earlier post What Are Receptors? So, now you know that that c-KIT receptor we talked about in the earlier post, that same receptor, which we learned back then, sits on the cell membrane, is actually a protein. And that protein actually originated from running the c-KIT gene instructions through the cell's protein manufacturing  machinery.

Remember :

c-KIT gene in nucleus contains c-KIT protein manufacturing instructions. These instructions are executed in the cell manufacturing plant. The running of these instructions produces the c-KIT protein inside the cellThe c-KIT protein is then pushed up through the cell membrane and becomes the c-KIT receptor on cell membrane. Notice we're always talking about the c-KIT ‘something', either the c-KIT gene, c-KIT protein, c-KIT receptor.

So, the c-KIT protein which was manufactured inside the cell suddenly pops-up outside the cell and implants itself on the cell surface, ready to listen to external signals.

At this stage it is strongly advised to re-read the post about receptors and come back here for more.

Ninja Mutant Turtle

Welcome back!

Let's now talk about mutations and remind ourselves what a mutation is by watching a video snippet. And please do pay attention at 00:05 to 00:14 in the video.


Did you pay attention? If not, here's the important bit.

  • A mutation is a damage to a gene.
  • There are several types of mutations.
  • The type we're interested in is the ‘point mutation'. That's the type of mutation that affects the c-KIT gene and causes out mast cells to proliferate.

As you've heard in the video:

In a point mutation, one base pair is replaced by another. Now that the coding has changed, the gene may not work properly.

So, in a point mutation, one rung of the ladder is replaced by another. Therefore, the sequence of the letters of the rungs in the gene are scrambled. Since that letter sequence is the instructions for the cell to manufacture the c-KIT receptor protein, and that sequence is now wrong because of the mutation, the c-KIT receptor protein is incorrectly assembled.

Who Left The Lights On?

Wait! Say What?

Just one change in the letters causes me all that misery?

True story! Just one letter change has dramatic consequences. You see, the c-KIT receptor is the guy that causes mast cells to proliferate in an uncontrolled fashion.

The c-KIT receptor is the ‘antenna' which receives the signal which tells the mast cell that it must reproduce itself. When the c-KIT ‘antenna' receives that signal (a signal which is called the Stem Cell Factor), the c-KIT flicks the ON switch for some machinery inside the cell which causes the cell to split and ‘give birth' to one more incarnation of itself.

The letter change in the gene, the mutation we were talking about?  That  has the consequence  that the ON/OF switch is incorrectly manufactured. That manufacturing defect causes the cell reproduction switch to be permanently ON, leaving the mast cell production machinery to manufacture mast cells all the time.

That means that the mast cell reproduces itself, even though no Stem Cell Factor signal was received to do so. That causes abnormal mast cell proliferation, which is the hallmark of mastocytosis.

In medical articles, you will read the term “heterozygous activating mutation of KIT”, which is what the letter change is called. You will also read about the “constitutive activation”.  That's the name given to the ON/OFF switch defect.

Location, Location, Location

I am sure you've scratched your head when you read about the “D816V mutation”. Well, it's the same thing as the mutation we were talking about, but with a bit more precision.

The following is not strictly correct, but I have taken editorial license to simplify the concept so that you can understand it. Pretend that the number 816 refers to the location of the ladder rung which has been mutated, and you won't be far off from the truth. So, the mutation happened on the 816th rung of the ladder. As to the D and V, pretend that these are the letters that have been changed. So, the D has been changed to a V.

so, let's pretend that D816V means that a mutation has caused rung 816 of the c-KIT gene ladder to change from a D-type rung to a V-type rung.

A typical medical article will read something like this:

The D816V heterozygous activating mutation of KIT results in a single base pair substitution of A in wild-type to T in mutant at nucleotide position 2447. This substitution changes theamino acid at codon 816 from aspartic acid (D) to valine (V), leading to constitutive activation of the tyrosine kinase II domain (TK2), resulting in cell proliferation and inhibition of apoptosis.

I hope you now understand the c-KIT mutation a bit better. If not, remember:

Head for the Masto Townhall forum and ask questions!

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