TTI2

Chr 8

TELO2 interacting protein 2

Also known as: C8orf41, MRT39

NCBI Gene: 80185 ENSG00000129696 UniProt: Q6NXR4

The protein regulates the DNA damage response as part of the TTT complex, which stabilizes phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins and promotes cellular resistance to DNA damage stresses including ionizing radiation and UV exposure. Biallelic mutations cause autosomal recessive intellectual developmental disorder. This gene is not highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a regulator of the DNA damage response. The protein is a component of the Triple T complex (TTT) which also includes telomere length regulation protein and TELO2 interacting protein 1. The TTT complex is involved in cellular resistance to DNA damage stresses and may act as a regulator of phosphoinositide-3-kinase-related protein kinase (PIKK) abundance. [provided by RefSeq, May 2013]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, autosomal recessive 39

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.04

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429