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CLCA2

Chr 1p22.3

chloride channel accessory 2

Aliases:
CLCRG2
MANE:
ENST00000370565.5

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Progressive cardiac conduction disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • Hallux valgus

    0.29
  • heart conduction disease

    0.18
  • cervical cancer

    0.08
  • cervical carcinoma

    0.08
  • urolithiasis

    0.08
  • alcohol drinking

    0.08
  • nasopharyngeal carcinoma

    0.07
  • early-onset non-syndromic cataract

    0.07
  • Leber congenital amaurosis

    0.06
  • retinitis pigmentosa

    0.06

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

Protein function (UniProt)

Calcium-activated chloride channel regulator 2

Plays a role in modulating chloride current across the plasma membrane in a calcium-dependent manner, and cell adhesion. Involved in basal cell adhesion and/or stratification of squamous epithelia. May act as a tumor suppressor in breast and colorectal cancer. Plays a key role for cell adhesion in the beginning stages of lung metastasis via the binding to ITGB4

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.