ITGA2B integrin subunit alpha 2b
Gene ID: 3674, updated on 3-May-2024Gene type: protein coding
Also known as: GT; GT1; GTA; CD41; GP2B; HPA3; CD41B; GPIIb; BDPLT2; BDPLT16; PPP1R93
- See all available tests in GTR for this gene
- Go to complete Gene record for ITGA2B
- Go to Variation Viewer for ITGA2B variants
Summary
This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Glanzmann thrombasthenia 1 | See labs |
| New gene functions in megakaryopoiesis and platelet formation. GeneReviews: Not available | |
| Platelet-type bleeding disorder 16 | See labs |
Genomic context
- Location:
- 17q21.31
- Sequence:
- Chromosome: 17; NC_000017.11 (44372181..44389649, complement)
- Total number of exons:
- 30
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ITGA2B variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- Glanzmann Thrombasthenia Database
- ITGA2B database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- The IPD - HPA Database
- Variation ViewerRelated Variants
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