InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TERF2

Summary

InnateDB Protein

IDBP-749464.3

Last Modified

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

Gene Symbol

TERF2

Protein Name

Synonyms

TRBF2; TRF2;

Species

Homo sapiens

Ensembl Protein

ENSP00000454955

InnateDB Gene

IDBG-39168 (TERF2)

Protein Structure

UniProt Annotation

Function

Binds the telomeric double-stranded 5'-TTAGGG-3' repeat and plays a central role in telomere maintenance and protection against end-to-end fusion of chromosomes. In addition to its telomeric DNA-binding role, required to recruit a number of factors and enzymes required for telomere protection, including the shelterin complex, TERF2IP/RAP1 and DCLRE1B/Apollo. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded 5'-TTAGGG-3' 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. Together with DCLRE1B/Apollo, plays a key role in telomeric loop (T loop) formation by generating 3' single- stranded overhang at the leading end telomeres: T loops have been proposed to protect chromosome ends from degradation and repair. Required both to recruit DCLRE1B/Apollo to telomeres and activate the exonuclease activity of DCLRE1B/Apollo. Preferentially binds to positive supercoiled DNA. Together with DCLRE1B/Apollo, required to control the amount of DNA topoisomerase (TOP1, TOP2A and TOP2B) needed for telomere replication during fork passage and prevent aberrant telomere topology. Recruits TERF2IP/RAP1 to telomeres, thereby participating in to repressing homology- directed repair (HDR), which can affect telomere length. {ECO:0000269PubMed:16166375, ECO:0000269PubMed:20655466, ECO:0000269PubMed:9476899}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00625, ECO:0000269PubMed:20655466}. Chromosome, telomere {ECO:0000269PubMed:20655466}. Note=Colocalizes with telomeric DNA in interphase cells and is located at chromosome ends during metaphase.

Disease Associations

Tissue Specificity

Ubiquitous. Highly expressed in spleen, thymus, prostate, uterus, testis, small intestine, colon and peripheral blood leukocytes.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 286 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.