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MGP004841

UniProt Annotations

Entry Information
Gene NameTERF1 (TRF1)-interacting nuclear factor 2
Protein EntryTINF2_HUMAN
UniProt IDQ9BSI4
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; Synonyms=TIN2L; IsoId=Q9BSI4-1; Sequence=Displayed; Name=2; Synonyms=TIN2S; IsoId=Q9BSI4-2; Sequence=VSP_003989; Name=3; IsoId=Q9BSI4-3; Sequence=VSP_003987, VSP_003988;
DiseaseDyskeratosis congenita, autosomal dominant, 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. {ECO:0000269|PubMed:18252230}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseDyskeratosis congenita, autosomal dominant, 5 (DKCA5) [MIM:268130]: 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. {ECO:0000269|PubMed:18252230}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe TBM domain mediates interaction with TERF1. {ECO:0000269|PubMed:18202258}.
FunctionComponent 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. {ECO:0000269|PubMed:16166375, ECO:0000269|PubMed:16880378}.
InteractionQ96AP0:ACD; NbExp=5; IntAct=EBI-717418, EBI-717666; Q15554:TERF2; NbExp=4; IntAct=EBI-717418, EBI-706637; Q9NYB0:TERF2IP; NbExp=3; IntAct=EBI-717418, EBI-750109;
Subcellular LocationIsoform 1: Nucleus matrix {ECO:0000269|PubMed:19229133}.
Subcellular LocationNucleus {ECO:0000269|PubMed:19279399}. Chromosome, telomere {ECO:0000269|PubMed:19279399}. Note=Associated with telomeres.
SubunitMonomer. 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. {ECO:0000269|PubMed:12768206, ECO:0000269|PubMed:15231715, ECO:0000269|PubMed:15316005, ECO:0000269|PubMed:15383534, ECO:0000269|PubMed:18202258}.
Tissue SpecificityDetected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
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