Entity Details

Primary name MPIG6B
Entity type gene
Source Source Link

Details

PrimaryID80739
RefseqGeneNG_029044
SymbolMPIG6B
Namemegakaryocyte and platelet inhibitory receptor G6b
Chromosome6
Location6p21.33
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsG6B_HUMAN

GO terms

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GOName
GO:0005654 nucleoplasm
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0007229 integrin-mediated signaling pathway
GO:0007596 blood coagulation
GO:0008201 heparin binding
GO:0009968 negative regulation of signal transduction
GO:0016021 integral component of membrane
GO:0030168 platelet activation
GO:0030218 erythrocyte differentiation
GO:0030219 megakaryocyte differentiation
GO:0030220 platelet formation
GO:0035855 megakaryocyte development

Diseases

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Disease IDSourceNameDescription
617441 OMIMThrombocytopenia, anemia, and myelofibrosis (THAMY)An autosomal recessive disorder characterized by thrombocytopenia, increased number of giant platelets, and anemia manifesting in early childhood. Bone marrow biopsy shows increased number of megakaryocytes and reticular fibrosis consistent with myelofibrosis. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
MPIG6BPTPN6BioGRID, HPRD, MINT11544253 details
MPIG6BPTPN11BioGRID, HPRD, MINT11544253 details
MPIG6BABL2IntAct23322602 details