ID:TINF2_HUMAN DESCRIPTION: RecName: Full=TERF1-interacting nuclear factor 2; AltName: Full=TRF1-interacting nuclear protein 2; 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. SUBUNIT: Monomer. Found in a complex with POT1; TERF1 and TNKS1. Component of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2, TERF2IP ACD and POT1. Interacts with TERF1, TERF2 and ACD. INTERACTION: Q96AP0:ACD; NbExp=6; IntAct=EBI-717418, EBI-717666; P54274:TERF1; NbExp=2; IntAct=EBI-717418, EBI-710997; Q15554:TERF2; NbExp=4; IntAct=EBI-717418, EBI-706637; Q9NYB0:TERF2IP; NbExp=3; IntAct=EBI-717418, EBI-750109; SUBCELLULAR LOCATION: Nucleus. Chromosome, telomere. Note=Associated with telomeres. SUBCELLULAR LOCATION: Isoform 1: Nucleus matrix. TISSUE SPECIFICITY: Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. DOMAIN: The TBM domain mediates interaction with TERF1. DISEASE: Defects in TINF2 are a cause of dyskeratosis congenita autosomal dominant type 3 (DKCA3) [MIM:613990]. 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. DISEASE: Defects in TINF2 are a cause of retinopathy exudative with bone marrow failure (ERBMF) [MIM:268130]; also known as Revesz syndrome. ERBMF is characterized by bilateral exudative retinopathy, bone marrow hypoplasia, nail dystrophy, fine hair, cerebellar hypoplasia, and growth retardation.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9BSI4
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0010836 negative regulation of protein ADP-ribosylation GO:0016233 telomere capping GO:0032202 telomere assembly GO:0032211 negative regulation of telomere maintenance via telomerase GO:0050680 negative regulation of epithelial cell proliferation GO:0070198 protein localization to chromosome, telomeric region GO:1904356 regulation of telomere maintenance via telomere lengthening
GeneReviews article(s) related to gene TINF2: dkc (Dyskeratosis Congenita and Related Telomere Biology Disorders) pf (Pulmonary Fibrosis Predisposition Overview)
Gene Model Information
Click here
for a detailed description of the fields of the table above.
Methods, Credits, and Use Restrictions
Click here
for details on how this gene model was made and data restrictions if any.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
