ITGA3 integrin subunit alpha 3

Gene ID: 3675, updated on 7-Apr-2024
Gene type: protein coding
Also known as: JEB7; VL3A; CD49C; FRP-2; GAPB3; ILNEB; MSK18; VCA-2; VLA3a; GAP-B3

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 as cell surface adhesion molecules. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 3 subunit. This subunit joins with a beta 1 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. Expression of this gene may be correlated with breast cancer metastasis. [provided by RefSeq, Oct 2015]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome MedGen: C4518785OMIM: 614748GeneReviews: Not available	See labs

Genomic context

Location:: 17q21.33

Sequence:: Chromosome: 17; NC_000017.11 (50056110..50090481)

Total number of exons:: 26

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for ITGA3 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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