GP1BA

Chr 17ARAD

glycoprotein Ib platelet subunit alpha

NCBI Gene: 2811ENSG00000185245UniProt: P07359

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

Primary Disease Associations & Inheritance

{Nonarteritic anterior ischemic optic neuropathy, susceptibility to}MIM #258660
AR
Bernard-Soulier syndrome, type A1 (recessive)MIM #231200
AR
Bernard-Soulier syndrome, type A2 (dominant)MIM #153670
AD
von Willebrand disease, platelet-typeMIM #177820
AD
UniProtNon-arteritic anterior ischemic optic neuropathy
0
ClinVar variants
0
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— GP1BA
🧬
Gene-Disease Validity (ClinGen)
Bernard-Soulier syndrome · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

2 total gene-disease associations curated

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.66LOEUF
pLI 0.003
Z-score 0.46
OE 0.78 (0.38–1.66)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.30Z-score
OE missense 1.05 (0.96–1.14)
368 obs / 352.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.78 (0.38–1.66)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.05 (0.96–1.14)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.08
0≤1.21.6
LoF obs/exp: 4 / 5.1Missense obs/exp: 368 / 352.0Syn Z: -0.81

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GP1BA · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

{Nonarteritic anterior ischemic optic neuropathy, susceptibility to}

MIM #258660

Molecular basis of disorder known

Autosomal recessive

Bernard-Soulier syndrome, type A1 (recessive)

MIM #231200

Molecular basis of disorder known

Autosomal recessive

Bernard-Soulier syndrome, type A2 (dominant)

MIM #153670

Molecular basis of disorder known

Autosomal dominant

von Willebrand disease, platelet-type

MIM #177820

Molecular basis of disorder known

Autosomal dominant
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Stroke genetics informs drug discovery and risk prediction across ancestries.
Mishra A et al.·Nature
2022Meta-analysis
The associations of candidate gene polymorphisms with aspirin resistance in patients with ischemic disease: a meta-analysis.
Li CX et al.·Hum Genomics
2024Meta-analysis
Biological, clinical features and modelling of heterozygous variants of glycoprotein Ib platelet subunit alpha (GP1BA) and glycoprotein Ib platelet subunit beta (GP1BB) genes responsible for constitutional thrombocytopenia.
Dib F et al.·Br J Haematol
2022Functional
Taqman-MGB FQ-PCR for Human GPIIIa, GP1BA and PEAR1 SNPs.
Cheng H et al.·Clin Lab
2022
Bernard-Soulier syndrome caused by two novel heterozygous GP1BA gene mutations: a case report and literature review.
Zhang S et al.·Hematology
2024Review
Exploring potential therapeutic targets for cardiomyopathy: A proteome-wide Mendelian randomization analysis.
Ji Y et al.·Medicine (Baltimore)
2025
A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.
Skalníková M et al.·Int J Mol Sci
2022Case report
The Platelet-Specific Gene Signature in the Immunoglobulin G4-Related Disease Transcriptome.
Oguz AK et al.·Medicina (Kaunas)
2025
Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study.
Bragadottir G et al.·Am J Hematol
2015
[Rare VPS33B gene mutation combined with GP1BA mutation causes severe decrease in plasma VWF levels: a case report and literature review].
Ma SQ et al.·Zhonghua Xue Ye Xue Za Zhi
2024Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools