GP1BA

Chr 17p13.2

glycoprotein Ib platelet subunit alpha

Aliases:: HPA-2, CD42b, GPIbalpha
MANE:: ENST00000329125.6

OMIM: 606672 ↗NCBI: 2811 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

GP1BA · P07359

v62025-08-01

Predicted Aligned Error matrix for GP1BA — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.3/ 100

Low

652 residues

Confidence breakdown

Very high(≥ 90)37%
Confident(70–90)7%
Low(50–70)8%
Very low(< 50)47%

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
BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders

Disease associations (Open Targets)

Bernard-Soulier syndrome
0.83
platelet-type von Willebrand disease
0.78
Optic neuropathy
0.62
Macrothrombocytopenia
0.48
Thrombocytopenia
0.47
autosomal dominant macrothrombocytopenia
0.39
Brooke-Spiegler syndrome
0.37
Barber-Say syndrome
0.37
Abnormal bleeding
0.34
Impaired ristocetin-induced platelet aggregation
0.27

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

Protein function (UniProt)

Platelet glycoprotein Ib alpha chain

GP-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to the A1 domain of vWF, which is already bound to the subendothelium