Gene: TINF2

Alternate names for this Gene: DKCA3|TIN2

Gene Summary: 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q12

Description of this Gene: TERF1 interacting nuclear factor 2

Type of Gene: protein-coding

rs121918543 in TINF2 gene and DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 PMID 18252230 2008 TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.

PMID 29483670 2018 Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.

rs28372734 in TINF2 gene and Platelet Count measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs121918544 in TINF2 gene and REVESZ SYNDROME (disorder) PMID 18252230 2008 Evidence favoring linkage was found at 2p24 and 14q11.2, and this led to the identification of TINF2 (14q11.2) mutations, K280E, in the proband and her five affected relatives and TINF2 R282H in three additional unrelated DC probands, including one with Revesz syndrome; a fifth DC proband had a R282S mutation.