| Gene Symbol |
TERF2
|
| Entrez Gene |
7014
|
| Alt Symbol |
TRBF2, TRF2
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
telomeric repeat binding factor 2
|
| Other Description |
TTAGGG repeat-binding factor 2|telomeric DNA-binding protein|telomeric repeat binding protein 2|telomeric repeat-binding factor 2
|
| Swissprots |
Q15554
|
| Accessions |
EAW83273 EAW83274 Q15554 AF002999 AAB81135 BC024890 AAH24890 BX090758 CB216181 HY046320 U95970 AAD00821 X93512 CAA63769 XM_005256121 XP_005256178 XM_005256122 XP_005256179 XM_005256123 XP_005256180 XM_005256124 XP_005256181 XM_011523308 XP_011521610 NM_005652 NP_005643
|
| 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 a
|
| Subcellular Location |
Nucleus {ECO:0000255|PROSITE- ProRule:PRU00625, ECO:0000269|PubMed:20655466}. Chromosome, telomere {ECO:0000269|PubMed:20655466}. Note=Colocalizes with telomeric DNA in interphase cells and is located at chromosome ends during metaphase.
|
| Tissue Specificity |
Ubiquitous. Highly expressed in spleen, thymus, prostate, uterus, testis, small intestine, colon and peripheral blood leukocytes.
|