GP1BB

Chr 22q11.21

glycoprotein Ib platelet subunit beta

Aliases:: CD42c, GPIbbeta
MANE:: ENST00000366425.4

OMIM: 138720 ↗NCBI: 2812 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GP1BB · P13224

v62025-08-01

Predicted Aligned Error matrix for GP1BB — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

87.9/ 100

Confident

206 residues

Confidence breakdown

Very high(≥ 90)71%
Confident(70–90)10%
Low(50–70)18%
Very low(< 50)1%

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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Inherited bleeding disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

Bernard-Soulier syndrome
0.80
Macrothrombocytopenia
0.61
Thrombocytopenia
0.50
autosomal dominant macrothrombocytopenia
0.40
Increased mean platelet volume
0.26
Abnormal bleeding
0.15
glomerulonephritis
0.13
platelet-type bleeding disorder 10
0.10
hereditary thrombocytopenia with normal platelets
0.10
thrombocytopenia 4
0.09

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

Protein function (UniProt)

Platelet glycoprotein Ib beta chain

Gp-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to von Willebrand factor, which is already bound to the subendothelium