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TANC2

Chr 17q23.2-q23.3

tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2

Aliases:
DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636
MANE:
ENST00000689528.1

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Early onset or syndromic epilepsy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • intellectual developmental disorder with autistic features and language delay, with or without seizures

    0.79
  • hereditary disease

    0.51
  • Intellectual disability

    0.46
  • neurodevelopmental disorder

    0.39
  • complex neurodevelopmental disorder

    0.37
  • autism spectrum disorder

    0.37
  • insomnia

    0.35
  • intelligence

    0.34
  • epilepsy

    0.33
  • ovarian neoplasm

    0.30

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

Protein function (UniProt)

Protein TANC2

Scaffolding protein in the dendritic spines which acts as immobile postsynaptic posts able to recruit KIF1A-driven dense core vesicles to dendritic spines

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.