InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TINF2

Summary

InnateDB Protein

IDBP-230665.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TINF2

Protein Name

TERF1 (TRF1)-interacting nuclear factor 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000382350

InnateDB Gene

IDBG-3746 (TINF2)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:16166375, ECO:0000269PubMed:16880378}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:19279399}. Chromosome, telomere {ECO:0000269PubMed:19279399}. Note=Associated with telomeres.Isoform 1: Nucleus matrix {ECO:0000269PubMed:19229133}.

Disease Associations

Dyskeratosis 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:0000269PubMed:18252230}. Note=The disease is caused by mutations affecting the gene represented in this entry.Dyskeratosis 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:0000269PubMed:18252230}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 107 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	109 [view]
Protein-Protein	109 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0042162	telomeric DNA binding

Biological Process

GO:0000723	telomere maintenance
GO:0010833	telomere maintenance via telomere lengthening
GO:0010836	negative regulation of protein ADP-ribosylation
GO:0032202	telomere assembly
GO:0032206	positive regulation of telomere maintenance
GO:0032211	negative regulation of telomere maintenance via telomerase
GO:0034502	protein localization to chromosome
GO:0050680	negative regulation of epithelial cell proliferation
GO:0070198	protein localization to chromosome, telomeric region

Cellular Component

GO:0000781	chromosome, telomeric region
GO:0000783	nuclear telomere cap complex
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0010370	perinucleolar chromocenter
GO:0016363	nuclear matrix