ITGA3

Chr 17

integrin subunit alpha 3

Also known as: CD49C, FRP-2, GAP-B3, GAPB3, ILNEB, JEB7, MSK18, VCA-2

NCBI Gene: 3675 ENSG00000005884 UniProt: P26006

The protein functions as the alpha-3 subunit of integrin alpha-3/beta-1, a cell surface receptor that binds extracellular matrix proteins including laminin, fibronectin, and collagen to mediate cell adhesion and migration. Mutations cause interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa with congenital absence of skin and mucous membrane blistering, following autosomal recessive inheritance. This gene is highly constrained against loss-of-function variants (LOEUF 0.534), reflecting its critical role in cell-matrix interactions.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEpidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome

Clinical highlights

Gene-disease validity (ClinGen)

epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.53

LOEUF

LOF

Mechanism· G2P

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