TINF2

TINF2 is 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. TINF2 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.

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.

Biological Process negative regulation of epithelial cell proliferationSource:BHF-UCL1 Publication
Biological Process negative regulation of protein ADP-ribosylationSource:BHF-UCL1 Publication
Biological Process negative regulation of telomere maintenance via telomeraseSource:BHF-UCL1 Publication
Biological Process positive regulation of telomere maintenanceSource:ComplexPortal1 Publication
Biological Process protein localization to chromosome, telomeric regionSource:CACAO1 Publication
Biological Process regulation of telomere maintenance via telomere lengtheningSource:BHF-UCL1 Publication
Biological Process telomere assemblySource:BHF-UCL1 Publication
Biological Process telomere cappingSource:ComplexPortal1 Publication

Nucleus
Chromosome, telomere
Associated with telomeres.
Isoform 1
Nucleus matrix

Dyskeratosis congenita, autosomal dominant, 3 (DKCA3):
A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy.
Dyskeratosis congenita, autosomal dominant, 5 (DKCA5):
A disease characterized by bone marrow hypoplasia, nail dystrophy, fine sparse hair, fine reticulate skin pigmentation, oral leukoplakia, bilateral exudative retinopathy, cerebellar hypoplasia, and growth retardation.