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CNTNAP2

Chr 7q35-q36.1

contactin associated protein 2

Aliases:
Caspr2, KIAA0868, NRXN4
MANE:
ENST00000361727.8
OMIM: 604569 ↗NCBI: 26047 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • cortical dysplasia-focal epilepsy syndrome

    0.77

  • Cortical dysplasia - focal epilepsy syndrome

    0.70

  • Pitt-Hopkins-like syndrome

    0.68

  • hereditary disease

    0.54

  • Rolandic epilepsy

    0.50

  • self-limited epilepsy with centrotemporal spikes

    0.50

  • autism

    0.47

  • alcohol drinking

    0.42

  • mathematical ability

    0.41

  • dislocation

    0.38

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

Protein function (UniProt)

Contactin-associated protein-like 2

Required for gap junction formation (Probable). Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the juxtaparanodal region of the axo-glial junction

Diseases associated with CNTNAP2

Curated MONDO disease pages that list CNTNAP2 among their top associated genes.

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.