DISEASES

Disease-gene associations mined from literature

Literature associating TINF2 and pulmonary fibrosis

TINF2 [ENSP00000267415]

TERF1 (TRF1)-interacting nuclear factor 2; 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.

Synonyms:  TINF2,  TINF2p,  hTINF2,  H0YKA6,  H0YL20 ...

Linkouts:  STRING  Pharos  UniProt  OMIM