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ITGA6

Chr 2q31.1

integrin subunit alpha 6

Aliases:
CD49f, VLA-6, ITGA6A, ITGA6B
MANE:
ENST00000684293.1

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Epidermolysis bullosa

    BIALLELIC, autosomal or pseudoautosomal
  • Epidermolysis bullosa and congenital skin fragility

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Ectodermal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Familial cicatricial alopecia

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • junctional epidermolysis bullosa with pyloric atresia

    0.70
  • Junctional epidermolysis bullosa - pyloric atresia

    0.67
  • epidermolysis bullosa, junctional 6, with pyloric atresia

    0.62
  • prostate carcinoma

    0.51
  • prostate cancer

    0.45
  • Varicose veins

    0.40
  • alcohol drinking

    0.38
  • generalized junctional epidermolysis bullosa non-Herlitz type

    0.37
  • junctional epidermolysis bullosa

    0.34
  • vein disorder

    0.33

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Integrin alpha-6

Integrin alpha-6/beta-1 (ITGA6:ITGB1) is a receptor for laminin on platelets (By similarity). Integrin alpha-6/beta-1 (ITGA6:ITGB1) is present in oocytes and is involved in sperm-egg fusion (By similarity). Integrin alpha-6/beta-4 (ITGA6:ITGB4) is a receptor for laminin in epithelial cells and it plays a critical structural role in the hemidesmosome (By similarity). ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:22351760). ITGA6:ITGB4 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.