ITGA4 integrin subunit alpha 4
Gene ID: 3676, updated on 17-Jun-2024Gene type: protein coding
Also known as: IA4; CD49D
- See all available tests in GTR for this gene
- Go to complete Gene record for ITGA4
- Go to Variation Viewer for ITGA4 variants
Summary
The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 4 subunit. This subunit associates with a beta 1 or beta 7 subunit to form an integrin that may play a role in cell motility and migration. This integrin is a therapeutic target for the treatment of multiple sclerosis, Crohn's disease and inflammatory bowel disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic variation associated with circulating monocyte count in the eMERGE Network. GeneReviews: Not available | |
| Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. GeneReviews: Not available | |
| Multiple common variants for celiac disease influencing immune gene expression. GeneReviews: Not available | |
| Multiple loci are associated with white blood cell phenotypes. GeneReviews: Not available |
Genomic context
- Location:
- 2q31.3
- Sequence:
- Chromosome: 2; NC_000002.12 (181457205..181538940)
- Total number of exons:
- 29
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ITGA4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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
- Variation ViewerRelated Variants
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