MPIG6B
Megakaryocyte and Platelet Inhibitory Receptor G6b
Gene Information Card
| Symbol | MPIG6B |
|---|---|
| Full Name | Megakaryocyte and Platelet Inhibitory Receptor G6b |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 80762 ncbi.nlm.nih.gov/gene/80762 |
| Ensembl ID | ENSG00000204592 |
| UniProt ID | O95866 |
| OMIM ID | 609221 |
| HGNC ID | 30006 |
| Aliases | G6b, C6orf25, MGC12966, MGC12967 |
Description
MPIG6B encodes a transmembrane immunoreceptor belonging to the immunoglobulin superfamily. It contains two immunoreceptor tyrosine-based inhibitory motifs (ITIMs) in its cytoplasmic tail and is expressed primarily in megakaryocytes and platelets. MPIG6B functions as an inhibitory receptor that negatively regulates platelet activation and thrombopoiesis by recruiting phosphatases such as SHP-1 and SHP-2 upon ligand binding. It plays a critical role in maintaining platelet homeostasis and preventing excessive thrombosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bleeding disorder, platelet-type, 20 (BDPLT20) | Loss-of-function mutations in MPIG6B impair inhibitory signaling, leading to increased platelet reactivity and thrombocytopenia. | ClinVar, OMIM |
| Thrombocytopenia | Deficiency of MPIG6B disrupts megakaryocyte maturation and platelet production. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Blood | 6.1 | Low |
| Lung | 4.2 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Megakaryocytes | 15.0 | High expression |
| Platelets | 10.5 | High expression |
| HEK 293 | 0.5 | Low expression |
| K562 | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon, likely loss of function |
| c.226C>T (p.Arg76*) | nonsense | Rare | Premature stop, loss of function |
| c.340G>A (p.Gly114Arg) | missense | Rare | Impaired ITIM signaling, reduced SHP-2 recruitment |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, associated with BDPLT20.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell (Reactome: R-HSA-198933)
• Platelet activation
• signaling and aggregation (Reactome: R-HSA-76002)
Protein Summary
MPIG6B is a 260-amino acid type I transmembrane protein with two extracellular immunoglobulin-like domains and a cytoplasmic tail containing two ITIMs. Upon ligand engagement, the ITIMs become phosphorylated and recruit the tyrosine phosphatases SHP-1 and SHP-2, which dampen activating signals in megakaryocytes and platelets. The protein is essential for negative regulation of platelet production and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MPIG6B Knockout HEK293 Cell Line | EDJ-KQ9564 | Human | 80739 | Details Get a Quote |
| MPIG6B Knockout HeLa Cell Line | EDJ-KQ57340 | Human | 80739 | Details Get a Quote |
| MPIG6B Knockout A-549 Cell Line | EDJ-KQ65846 | Human | 80739 | Details Get a Quote |
| MPIG6B Knockout HCT 116 Cell Line | EDJ-KQ74270 | Human | 80739 | Details Get a Quote |
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