Gene
ITGA2B
integrin subunit alpha 2b
- HGNC 6138(opens in a new tab)
- Ensembl gene ENSG00000005961(opens in a new tab)
- NCBI Gene 3674(opens in a new tab)
Summary
- Cytogenetic location
- 17q21.31
- Coordinates
- Chromosome 17: 44,372,181–44,389,649 (GRCh38)
- Exons
- 30 exons across 17.5 kb
- Protein
- 1,039 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- CD41B, CD41, PPP1R93, GPIIb
- Previous symbols
- GP2B
- MANE Select transcript
- ENST00000262407.6NM_000419.5
- 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
- 4 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 ITGA2B 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 3.5 kb of the gene's 17.5 kb; 3,120 of those bases code for the protein.
How a genome test reads ITGA2B
244
positions in ITGA2B 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 17.5 kb of ITGA2B, introns included, not only the 3.5 kb of exons.
Variants with a page (224)
The ITGA2B 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 |
|---|---|---|---|---|---|
| A31Pfs*2 | c.91del | Exon 1 | 44,389,382 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A139V | c.416C>T | Exon 4 | 44,385,709 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A216V | c.647C>T | Exon 6 | 44,385,187 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A232Cfs*24 | c.693dup | Exon 7 | 44,385,053 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A271G | c.812C>G | Exon 8 | 44,384,573 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A297P | c.889G>C | Exon 9 | 44,384,313 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A341T | c.1021G>A | Exon 12 | 44,383,682 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A477Gfs*111 | c.1424_1427dup | Exon 14 | 44,380,611 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A477P | c.1429G>C | Exon 14 | 44,380,610 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A658Efs*37 | c.1973del | Exon 20 | 44,378,482 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
Traits linked to ITGA2B
The Human Phenotype Ontology lists these as features of the rare conditions ITGA2B can cause. Each trait's page lists the other genes linked to it.
Abnormality of blood and blood-forming tissues
- Bloody nose
- Decreased platelet glycoprotein IIb-IIIa
- Ecchymosis
- Excessive bleeding from superficial cuts
- Giant platelets
- Impaired ADP-induced platelet aggregation
- Impaired clot retraction
- Impaired collagen-induced platelet aggregation
Show 31 more traits
- Impaired epinephrine-induced platelet aggregation
- Low platelet count
- Macrothrombocytopenia
- Neonatal alloimmune thrombocytopenia
- Platelet anisocytosis
- Subdural hemorrhage
- Large platelets
- Prolonged bleeding time
- Recurring nosebleed
- Bleeding gums
- Bleeding tendency
- Blood spots
- Bruising susceptibility
- Cephalohematoma
- Petechiae
- Prolonged bleeding after surgery
- Prolonged bleeding following circumcision
- Spontaneous hematomas
- Abnormally heavy bleeding during menstruation
- Black feces
- Bleeding within the skull
- Gastrointestinal bleeding
- Prolonged bleeding after dental extraction
- Impaired ristocetin-induced platelet aggregation
- Subarachnoid hemorrhage
- Impaired arachidonic acid-induced platelet aggregation
- Impaired collagen-related peptide-induced platelet aggregation
- Impaired platelet aggregation
- Impaired thrombin-induced platelet aggregation
- Impaired thromboxane A2 agonist-induced platelet aggregation
- Low number of red blood cells or hemoglobin
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.). ITGA2B gene: integrin subunit alpha 2b. Retrieved 17 October 2026, from https://dantelabs.com/genes/itga2b
Dante Labs. ITGA2B gene: integrin subunit alpha 2b [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/itga2b
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