Gene
ITGB3
integrin subunit beta 3
- HGNC 6156(opens in a new tab)
- Ensembl gene ENSG00000259207(opens in a new tab)
- NCBI Gene 3690(opens in a new tab)
Summary
- Cytogenetic location
- 17q21.32
- Coordinates
- Chromosome 17: 47,253,827–47,313,743 (GRCh38)
- Exons
- 15 exons across 59.9 kb
- Protein
- 788 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- CD61, GPIIIa
- Previous symbols
- GP3A
- MANE Select transcript
- ENST00000559488.7NM_000212.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Inherited Platelet Function Disorders
- Glanzmann ThrombastheniaAutosomal recessive
A recessive disorder caused by changes in ITGA2B or ITGB3, in which platelets cannot clump together, causing lifelong bleeding from the skin, nose, gums and, in women, heavy periods.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Knowing about it helps avoid antiplatelet medicines, guides the choice of platelet transfusion or recombinant factor VIIa, and prompts planning in pregnancy because antibodies against platelets can affect the baby.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How ITGB3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 5.9 kb of the gene's 59.9 kb; 2,367 of those bases code for the protein.
How a genome test reads ITGB3
155
positions in ITGB3 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 59.9 kb of ITGB3, introns included, not only the 5.9 kb of exons.
Variants with a page (147)
The ITGB3 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A19Gfs*36 | c.55dup | Exon 1 | 47,253,911 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A76Pfs*10 | c.225_226del | Exon 3 | 47,283,410 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A283Ifs*12 | c.847_848del | Exon 6 | 47,287,138 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A398Pfs*24 | c.1192del | Exon 9 | 47,291,019 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.79+1G>A | Intron 1 | 47,253,941 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.161_165+1delinsCTGATT | Exon 2 | 47,274,500 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.166-2A>G | Intron 2 | 47,283,352 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.361+1G>A | Intron 3 | 47,283,550 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.362-1G>A | Intron 3 | 47,284,442 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.612_614+1del | Exon 4 | 47,284,692 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
Traits linked to ITGB3
The Human Phenotype Ontology lists these as features of the rare conditions ITGB3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of blood and blood-forming tissues
- Abnormally heavy bleeding during menstruation
- Bleeding tendency
- Bruising susceptibility
- Impaired ADP-induced platelet aggregation
- Impaired arachidonic acid-induced platelet aggregation
- Impaired collagen-induced platelet aggregation
- Impaired epinephrine-induced platelet aggregation
- Large platelets
Show 26 more traits
- Low platelet count
- Neonatal alloimmune thrombocytopenia
- Platelet anisocytosis
- Impaired clot retraction
- Macrothrombocytopenia
- Prolonged bleeding time
- Recurring nosebleed
- Bleeding gums
- Blood spots
- Cephalohematoma
- Decreased platelet glycoprotein IIb-IIIa
- Petechiae
- Prolonged bleeding after surgery
- Prolonged bleeding following circumcision
- Spontaneous hematomas
- Black feces
- Bleeding within the skull
- Bloody nose
- Ecchymosis
- Gastrointestinal bleeding
- Prolonged bleeding after dental extraction
- Impaired ristocetin-induced platelet aggregation
- Subarachnoid hemorrhage
- Impaired collagen-related peptide-induced platelet aggregation
- Impaired thrombin-induced platelet aggregation
- Impaired thromboxane A2 agonist-induced platelet aggregation
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). ITGB3 gene: integrin subunit beta 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/itgb3
Dante Labs. ITGB3 gene: integrin subunit beta 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/itgb3
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