ITGB3

Chr 17ADAR

integrin subunit beta 3

Also known as: BDPLT16, BDPLT2, BDPLT24, CD61, FMAIT1, GP3A, GPIIIa, GT

NCBI Gene: 3690ENSG00000259207UniProt: P05106

The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008]

Primary Disease Associations & Inheritance

Bleeding disorder, platelet-type, 24, autosomal dominantMIM #619271
AD
Fetomaternal alloimmune thrombocytopenia 1MIM #621264
AD
Glanzmann thrombasthenia 2MIM #619267
AR
2
Active trials
23
Pathogenic / LP
287
ClinVar variants
120
Pubs (1 yr)
—
Missense Z
—
LOEUF
Clinical Summary— ITGB3
🧬
Gene-Disease Validity (ClinGen)
Glanzmann thrombasthenia · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

2 total gene-disease associations curated

📋
ClinVar Variants
23 Pathogenic / Likely Pathogenic· 81 VUS of 287 total submissions
💊
Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available
📖
GeneReview available — ITGB3
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

GOFDN
DN
0.6647th %ile
GOF
0.74top 25%
LOF
0.2775th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median · 1 literature citation
DNprediction above median · 1 literature citation

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Literature Evidence

DNWe have shown the concomitant presence of both the normal and a mutated b3 protein in platelet lysates of the proband; thus, a loss-of-function hypothesis, with a dominant negative effect resulting from the p.D647_E686del mutation, can be made.PMID:19336737
GOFRare gain-of-function mutations within the ITGA2B or ITGB3 genes have been recognized to cause macrothrombocytopenia (MTP).PMID:29090484

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

287 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic16
Likely Pathogenic7
VUS81
Likely Benign182
Benign1
16
Pathogenic
7
Likely Pathogenic
81
VUS
182
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
7
0
9
0
16
Likely Pathogenic
2
4
1
0
7
VUS
1
75
3
2
81
Likely Benign
0
1
81
100
182
Benign
0
0
1
0
1
Total108095102287

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

ITGB3 · protein map & ClinVar variants

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

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
ITGA2B/ITGB3-Related Macrothrombocytopenia Associated With Gain-of-Function Mutations in ITGA2B or ITGB3 Genes.
Wu J et al.·J Cell Mol Med
2026Open Access
Overexpression of ITGB3 in Peripheral Blood Mononuclear Cells of Relapsing-Remitting Multiple Sclerosis Patients.
Sancho GBV et al.·Int J Mol Sci
2025Open AccessCohort
Endothelial ANGPT2 impairs cardiomyocyte calcium homeostasis via ITGB3 receptor in murine sepsis-related cardiomyopathy.
Lu YN et al.·Biochim Biophys Acta Mol Cell Res
2026
Ultra-small coordination dihydromyricetin nanodots attenuate alveolar bone resorption in periodontitis through inhibition of ITGB3-Driven osteoclast differentiation.
Zhao B et al.·Mater Today Bio
2025Open Access
Circ_0005372 targets the miR-153-3p/ITGB3 axis to stimulate the PI3K/AKT signaling pathway to facilitate the occurrence and development of congenital heart disease and pulmonary arterial hypertension in children.
Zhu M et al.·Cardiovasc Pathol
2026
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients