MPIG6B Chromosome 6
Megakaryocyte and platelet inhibitory receptor G6b
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What This Gene Does
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]
Associated Conditions (3)
Thrombocytopenia
anemia
and myelofibrosis
Key Variants
RS1807027560
Likely pathogenic
Thrombocytopenia, anemia, and myelofibrosis
Health Risk
RS1807078259
Likely pathogenic
Thrombocytopenia, anemia, and myelofibrosis
Health Risk
RS2537273757
Likely pathogenic
Thrombocytopenia, anemia, and myelofibrosis
Health Risk
RS2537274178
Likely pathogenic
Thrombocytopenia, anemia, and myelofibrosis
Health Risk
RS34741956
Likely pathogenic
Thrombocytopenia, anemia, and myelofibrosis
Health Risk
RS1060505057
Pathogenic
Thrombocytopenia, anemia, and myelofibrosis
Health Risk
RS1583819935
Pathogenic
Health Risk
RS2537262217
Pathogenic
Health Risk
RS935669552
Pathogenic
Thrombocytopenia, anemia, and myelofibrosis
Health Risk
RS11575845
Pathogenic/Likely pathogenic
Thrombocytopenia, anemia, and myelofibrosis
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1807027560 | Health Risk | Likely pathogenic | Thrombocytopenia, anemia, and myelofibrosis |
| RS1807078259 | Health Risk | Likely pathogenic | Thrombocytopenia, anemia, and myelofibrosis |
| RS2537273757 | Health Risk | Likely pathogenic | Thrombocytopenia, anemia, and myelofibrosis |
| RS2537274178 | Health Risk | Likely pathogenic | Thrombocytopenia, anemia, and myelofibrosis |
| RS34741956 | Health Risk | Likely pathogenic | Thrombocytopenia, anemia, and myelofibrosis |
| RS1060505057 | Health Risk | Pathogenic | Thrombocytopenia, anemia, and myelofibrosis |
| RS1583819935 | Health Risk | Pathogenic | — |
| RS2537262217 | Health Risk | Pathogenic | — |
| RS935669552 | Health Risk | Pathogenic | Thrombocytopenia, anemia, and myelofibrosis |
| RS11575845 | Health Risk | Pathogenic/Likely pathogenic | Thrombocytopenia, anemia, and myelofibrosis |