MPIG6B (megakaryocyte and platelet inhibitory receptor G6b)

Gene

• Entrez ID: 80739
• Gene name: Megakaryocyte and platelet inhibitory receptor G6b
• Gene symbol: MPIG6B
• Synonyms (NCBI Gene): 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: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

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

• 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

Pathways

Reactome:

GPVI-mediated activation cascade

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Thrombocytopenia, anemia, and myelofibrosis	Likely pathogenic; Pathogenic	rs34741956, rs1807078259, rs2537273757, rs2537274178, rs935669552, rs1060505057, rs11575845, rs1807027560	RCV002283847 RCV002245432 RCV003388292 RCV003990648 RCV004587806 RCV000477970 RCV003989123 RCV001283836	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal bleeding	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MPIG6B-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	12402391		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	1347673	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	19145200		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	27743390		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	27743390	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	11835346	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	11835346		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10736104	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	19915573		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	38569191	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	GENOMICS_ENGLAND_DG	23112346		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	11835346		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	26031759, 26991115		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	12402391		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	27743390	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	27743390	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	GWASDB_DG	24149102		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	11604589		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	24871463		★☆☆☆☆ Found in Text Mining only
Macrothrombocytopenia	Macrothrombocytopenia	BEFREE	29898956, 31436532		★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	29891536, 29898956		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19145200, 25842160		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	31276734		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	29891536, 29898956		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10736104		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	21156761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	BEFREE	19145200		★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	27166924		★☆☆☆☆ Found in Text Mining only
THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS	THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS	GENOMICS_ENGLAND_DG	23112346, 27743390		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS	THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ulcerative Colitis	Ulcerative colitis	BEFREE	20228799		★☆☆☆☆ Found in Text Mining only