MPIG6B (megakaryocyte and platelet inhibitory receptor G6b)

Gene

• Entrez ID: 80739
• Gene name: Megakaryocyte and platelet inhibitory receptor G6b
• Gene symbol: MPIG6B
• Synonyms: C6orf25, G6b, G6b-B, NG31, THAMY
• Chromosome: 6
• Chromosome location: 6p21.33
• Summary: This gene is a member of the immunoglobulin (Ig) superfamily and is located in the major histocompatibility complex (MHC) class III region. The protein encoded by this gene is a glycosylated, plasma membrane-bound cell surface receptor, but soluble isofor

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11575845	C>G,T	Pathogenic	Intron variant, stop gained, coding sequence variant, missense variant, synonymous variant
rs1060505057	C>A	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT671616	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT671615	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT671614	hsa-miR-1972	HITS-CLIP	23824327
MIRT671613	hsa-miR-4650-5p	HITS-CLIP	23824327
MIRT671612	hsa-miR-6499-5p	HITS-CLIP	23824327
MIRT671611	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT671610	hsa-miR-4284	HITS-CLIP	23824327
MIRT671609	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671608	hsa-miR-3178	HITS-CLIP	23824327
MIRT671616	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT671615	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT671614	hsa-miR-1972	HITS-CLIP	23824327
MIRT671613	hsa-miR-4650-5p	HITS-CLIP	23824327
MIRT671612	hsa-miR-6499-5p	HITS-CLIP	23824327
MIRT671611	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT671610	hsa-miR-4284	HITS-CLIP	23824327
MIRT671609	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671608	hsa-miR-3178	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	23112346
GO:0005654	Component	Nucleoplasm	IDA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	11544253
GO:0005886	Component	Plasma membrane	TAS
GO:0007229	Process	Integrin-mediated signaling pathway	IBA	21873635
GO:0007229	Process	Integrin-mediated signaling pathway	ISS
GO:0007596	Process	Blood coagulation	IBA	21873635
GO:0007596	Process	Blood coagulation	ISS
GO:0008201	Function	Heparin binding	IEA
GO:0009968	Process	Negative regulation of signal transduction	IDA	18955485
GO:0016021	Component	Integral component of membrane	IEA
GO:0030168	Process	Platelet activation	TAS
GO:0030218	Process	Erythrocyte differentiation	IMP	27743390
GO:0030219	Process	Megakaryocyte differentiation	IMP	27743390
GO:0030220	Process	Platelet formation	IBA	21873635
GO:0030220	Process	Platelet formation	ISS
GO:0035855	Process	Megakaryocyte development	IBA	21873635
GO:0035855	Process	Megakaryocyte development	ISS

Other IDs

• MIM: 606520
• HGNC: 13937
• e!Ensembl: ENSG00000204420

Protein

• UniProt ID: O95866
• Protein name: Megakaryocyte and platelet inhibitory receptor G6b (Protein G6b)
• Protein function: Inhibitory receptor that acts as a critical regulator of hematopoietic lineage differentiation, megakaryocyte function and platelet production (PubMed:12665801, PubMed:17311996, PubMed:27743390). Inhibits platelet aggregation and activation by a
• PDB: 6R0X
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15096	G6B	18 → 241	G6B family	Family

• Sequence:

  MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGR
  RPILWASSSGTPTVPPLQPFVGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVL
  HVLGDRTYCKAPGPTHGSVYPQLLIPLLGAGLVLGLGALGLVWWLHRRLPPQPIRPLPRF
  APLVKTEPQRPVKEEEPKIPGDLDQEPSLLYADLDHLALSRPRRLSTADPADASTIYAVV
  V

• Sequence length: 241

Pathways

Reactome:

GPVI-mediated activation cascade

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	17632545
Platelet-type bleeding disorder	Blood Platelet Disorders	rs1560045738, rs70961716, rs142186404, rs121918035, rs121918444, rs760074158, rs2146873791, rs387907345, rs387907346, rs387907348, rs387907350, rs397989794, rs587777211, rs587777529, rs724159972, rs572295823, rs550565800, rs869320714, rs869320716, rs757188030, rs1057518838, rs1057518837, rs148051111, rs1555122100, rs1554724694, rs755459581, rs752492512, rs1592371840, rs747559032, rs778608263, rs148910227, rs3211901, rs1594755688, rs1594760036, rs1594760140, rs1594768463, rs1594771224, rs1594771270, rs551607784, rs774996406, rs200434813	23112346
Myelofibrosis	Primary Myelofibrosis	rs77375493, rs587776885, rs1555760738, rs146249964, rs755257605
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	21156761
Thrombocytopenia, anemia, and myelofibrosis	THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS	rs1060505057, rs11575845	27743390, 23112346

Unknown
Disease name	Disease term	dbSNP ID	References
Hodgkin disease	Hodgkin Disease		24149102
Lupus erythematosus	Lupus Erythematosus, Systemic		24871463