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GenoLensGenoLens

CNTN2

Chr 1q32.1

contactin 2

Aliases:
TAG-1, TAX1
MANE:
ENST00000331830.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • benign adult familial myoclonic epilepsy

    0.67
  • type 2 diabetes mellitus

    0.46
  • diabetes mellitus

    0.44
  • complex neurodevelopmental disorder

    0.44
  • diabetic eye disease

    0.41
  • Abnormality of the skeletal system

    0.39
  • coronary artery disorder

    0.39
  • epilepsy, familial adult myoclonic

    0.38
  • coronary atherosclerosis

    0.32
  • diabetic neuropathy

    0.31

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

Protein function (UniProt)

Contactin-2

In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be involved in cell adhesion

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.