TINF2

Chr 14

TERF1 interacting nuclear factor 2

Also known as: DKCA3, DKCA5, TIN2

NCBI Gene: 26277 ENSG00000092330 UniProt: Q9BSI4

The protein is a critical component of the shelterin complex that protects telomeres from being recognized as DNA breaks and regulates telomere length. Mutations cause dyskeratosis congenita and Revesz syndrome, inherited bone marrow failure syndromes that affect multiple organ systems including skin, nails, and hematopoietic system. The gene follows autosomal dominant inheritance and is highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDyskeratosis congenita, autosomal dominant, 3

UniProtDyskeratosis congenita, autosomal dominant, 5

Clinical highlights

Gene-disease validity (ClinGen)

dyskeratosis congenita, autosomal dominant 3 · ADDefinitivesufficient evidence for diagnostic panels

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

0.67

LOEUF

LOF*

Mechanism· G2P

Some data sources returned errors (1)

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