Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	80739
Gene name	Megakaryocyte and platelet inhibitory receptor G6b
Gene symbol	MPIG6B
Synonyms (NCBI Gene)	C6orf25G6bG6b-BNG31THAMY
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

Show/Hide all (2)

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

Show/Hide all (18)

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

Show/Hide all (28)

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:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11544253
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007229	Process	Integrin-mediated signaling pathway	IBA
GO:0007229	Process	Integrin-mediated signaling pathway	IEA
GO:0007229	Process	Integrin-mediated signaling pathway	ISS
GO:0007596	Process	Blood coagulation	IBA
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	ISS
GO:0008201	Function	Heparin binding	IEA
GO:0009968	Process	Negative regulation of signal transduction	IDA	18955485
GO:0016020	Component	Membrane	IEA
GO:0030218	Process	Erythrocyte differentiation	IMP	27743390
GO:0030219	Process	Megakaryocyte differentiation	IMP	27743390
GO:0030220	Process	Platelet formation	IBA
GO:0030220	Process	Platelet formation	IEA
GO:0030220	Process	Platelet formation	ISS
GO:0035855	Process	Megakaryocyte development	IBA
GO:0035855	Process	Megakaryocyte development	IEA
GO:0035855	Process	Megakaryocyte development	ISS

MIM	HGNC	e!Ensembl
606520	13937	ENSG00000204420

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

Tissue specificity

TISSUE SPECIFICITY: Expressed in platelets. Expressed in a restricted set of hematopoietic cell lines including the erythroleukemia cell line K-562 and the T-cell leukemia cell lines MOLT-4 and Jurkat. Not detected in the monocyte-like cell line U-937, th

Sequence

MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRWVWAPSFPACKGLSKGR
RPILWASSSGTPTVPPLQPFVGRLRSLDSGIRRLELLLSAGDSGTFFCKGRHEDESRTVL
HVLGDRTYCKAPGPTHGSVYPQLLIPLLGAGLVLGLGALGLVWWLHRRLPPQPIRPLPRF
APLVKTEPQRPVKEEEPKIPGDLDQEPSLLYADLDHLALSRPRRLSTADPADASTIYAVV
V

Sequence length

241

Interactions

View interactions

	Reactome
			GPVI-mediated activation cascade

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Thrombocytopenia, anemia, and myelofibrosis	Likely pathogenic; Pathogenic	rs34741956, rs1807078259, rs2537273757, rs2537274178, rs935669552, rs1060505057, rs11575845, rs1807027560	RCV002283847 RCV002245432 RCV003388292 RCV003990648 RCV004587806 RCV000477970 RCV003989123 RCV001283836

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal bleeding	Uncertain significance	rs1483726517, rs147600887	RCV001270515 RCV001270598
MPIG6B-related disorder	Benign; Uncertain significance; Likely benign	rs11575845, rs374895705, rs148282893, rs4947252, rs150417881, rs553018500	RCV003980862 RCV003408682 RCV003981461 RCV003981314 RCV003978279 RCV003930506
Thrombocytopenia	Uncertain significance	rs1483726517, rs147600887	RCV001270515 RCV001270598

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amyotrophic Lateral Sclerosis	Associate	1347673
Anemia	Associate	27743390
Anemia Sickle Cell	Associate	11835346
Arthritis Rheumatoid	Associate	10736104
Biliary Atresia	Associate	38569191
Dystonic Disorders	Associate	27743390
Hematologic Diseases	Associate	27743390
Lymphoma Non Hodgkin	Associate	11071657
Syndrome	Associate	11071657

MPIG6B (megakaryocyte and platelet inhibitory receptor G6b)