Aliases for MPIG6B Gene
External Ids for MPIG6B Gene
Previous HGNC Symbols for MPIG6B Gene
Previous GeneCards Identifiers for MPIG6B Gene
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 isoforms encoded by some transcript variants have been found in the endoplasmic reticulum and Golgi before being secreted. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for MPIG6B Gene
MPIG6B (Megakaryocyte And Platelet Inhibitory Receptor G6b) is a Protein Coding gene. Diseases associated with MPIG6B include Thrombocytopenia, Anemia, And Myelofibrosis and Thrombocytopenia. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and G beta-gamma signalling through PI3Kgamma.
UniProtKB/Swiss-Prot for MPIG6B Gene
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 agonists such as ADP and collagen-related peptide (PubMed:12665801). This regulation of megakaryocate function as well as platelet production ann activation is done through the inhibition (via the 2 ITIM motifs) of the receptors CLEC1B and GP6:FcRgamma signaling (PubMed:17311996). Appears to operate in a calcium-independent manner (PubMed:12665801).
Isoform B, displayed in this entry, is the only isoform to contain both a transmembrane region and 2 immunoreceptor tyrosine-based inhibitor motifs (ITIMs) and, thus, the only one which probably has a role of inhibitory receptor. Isoform A may be the activating counterpart of isoform B.