TINF2
Domain
The TBM domain mediates interaction with TERF1.
Function
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.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
Cellular localization
- Nucleus
- Chromosome
- Telomere
- Associated with telomeres.
- Isoform 1
- Nucleus matrix
Alternative names
TIN2, TINF2, TERF1-interacting nuclear factor 2, TRF1-interacting nuclear protein 2