Aliases for TINF2 Gene
External Ids for TINF2 Gene
Previous GeneCards Identifiers for TINF2 Gene
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]
GeneCards Summary for TINF2 Gene
TINF2 (TERF1 (TRF1)-Interacting Nuclear Factor 2) is a Protein Coding gene. Diseases associated with TINF2 include Revesz Syndrome and Dyskeratosis Congenita, Autosomal Dominant 3. Among its related pathways are Packaging Of Telomere Ends and Regulation of Telomerase. GO annotations related to this gene include telomeric DNA binding.
UniProtKB/Swiss-Prot for TINF2 Gene
Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Plays a role in shelterin complex assembly. Isoform 1 may have additional role in tethering telomeres to the nuclear matrix.