TANC2

Chr 17

tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2

Also known as: IDDALDS, ROLSA, rols

NCBI Gene: 26115 ENSG00000170921 UniProt: Q9HCD6

The protein serves as a scaffolding protein in dendritic spines that recruits dense core vesicles to postsynaptic sites. Autosomal dominant mutations cause intellectual developmental disorder with autistic features and language delay, with or without seizures. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.

ResearchSummary from RefSeq, OMIM, UniProt

Predicted to be a structural constituent of postsynaptic density. Predicted to be involved in dense core granule cytoskeletal transport; regulation of dendritic spine development; and regulation of dendritic spine morphogenesis. Predicted to act upstream of or within in utero embryonic development. Located in dendritic spine. Implicated in intellectual developmental disorder with autistic features and language delay, with or without seizures. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

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

Clinical highlights

Gene-disease validity (ClinGen)

intellectual developmental disorder with autistic features and language delay, with or without seizures · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.16

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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