MPIG6B

Chr 6p21.33

megakaryocyte and platelet inhibitory receptor G6b

Aliases:: G6b, NG31, G6b-B
MANE:: ENST00000649779.1

OMIM: 606520 ↗NCBI: 80739 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

MPIG6B · O95866

v62025-08-01

Predicted Aligned Error matrix for MPIG6B — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.2/ 100

Confident

241 residues

Confidence breakdown

Very high(≥ 90)39%
Confident(70–90)20%
Low(50–70)18%
Very low(< 50)24%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bleeding and platelet disorders
BIALLELIC, autosomal or pseudoautosomal
Inherited bleeding disorders
BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia
BIALLELIC, autosomal or pseudoautosomal
Cytopenias and congenital anaemias
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

thrombocytopenia, anemia, and myelofibrosis
0.69
blood platelet disease
0.37
Thrombocytopenia
0.16
Abnormal bleeding
0.14
thrombocythemia 2
0.13
hereditary disease
0.12
gray platelet syndrome
0.08
beta-thalassemia-X-linked thrombocytopenia syndrome
0.07
Beta-thalassemia - X-linked thrombocytopenia
0.07
acute erythroid leukemia
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Megakaryocyte and platelet inhibitory receptor G6b

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)