ITGB6 integrin subunit beta 6
Gene ID: 3694, updated on 11-Apr-2024Gene type: protein coding
Also known as: AI1H
- See all available tests in GTR for this gene
- Go to complete Gene record for ITGB6
- Go to Variation Viewer for ITGB6 variants
Summary
This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms a dimer with an alpha v chain and this heterodimer can bind to ligands like fibronectin and transforming growth factor beta 1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Amelogenesis imperfecta type 1H | See labs |
| Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes. GeneReviews: Not available | |
| Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. GeneReviews: Not available |
Genomic context
- Location:
- 2q24.2
- Sequence:
- Chromosome: 2; NC_000002.12 (160099671..160200272, complement)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ITGB6 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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
- Variation ViewerRelated Variants
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