MPIG6B

Chr 6

megakaryocyte and platelet inhibitory receptor G6b

Also known as: C6orf25, G6b, G6b-B, NG31, THAMY

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtThrombocytopenia, anemia, and myelofibrosis

Clinical highlights

Gene-disease validity (ClinGen)
thrombocytopenia, anemia, and myelofibrosis · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
4
Pubs (1 yr)
P/LP submissions
P/LP missense
1.45
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.45LOEUF
pLI 0.000
Z-score 0.46
OE 0.86 (0.531.45)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.04Z-score
OE missense 0.77 (0.670.89)
126 obs / 163.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.86 (0.531.45)
00.351.4
Missense OE?0.77 (0.670.89)
00.61.4
Synonymous OE?0.76
01.21.6
LoF obs/exp: 10 / 11.7Missense obs/exp: 126 / 163.4Syn Z: 1.65

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MPIG6B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →