GenAge entry for TERF2 (Homo sapiens)
Gene name (HAGRID: 116)
- HGNC symbol
- TERF2
- Aliases
- TRF2; TRBF2
- Common name
- telomeric repeat binding factor 2
Potential relevance to the human ageing process
- Main reason for selection
- Entry selected based on evidence linking the gene product to a pathway or mechanism linked to ageing
- Description
TERF2 is a component of shelterin and together with TERF1, appears to play an important role in telomere biology [73]. In mice, overexpression of TERF2 in the skin results in a severe phenotype in response to light, including skin deterioration, hyperpigmentation and increased skin cancer [1540]. On the other hand, conditional deletion (at day E11.5) in the skin results in partial embryonic lethality and provokes a induction of an acute DNA damage response in telomeres, activation of p53 signaling pathways and programed cell death [3617]. Despite its association with WRN [592], TERF2's role in human ageing is unknown.
Cytogenetic information
- Cytogenetic band
- 16q22.1
- Location
- 69,355,561 bp to 69,385,988 bp
- Orientation
- Minus strand
Protein information
- Gene Ontology
-
Process: GO:0000723; telomere maintenance
GO:0007004; telomere maintenance via telomerase
GO:0007049; cell cycle
GO:0010628; positive regulation of gene expression
GO:0010629; negative regulation of gene expression
GO:0016233; telomere capping
GO:0031627; telomeric loop formation
GO:0031848; protection from non-homologous end joining at telomere
GO:0032204; regulation of telomere maintenance
GO:0032205; negative regulation of telomere maintenance
GO:0032206; positive regulation of telomere maintenance
And 12 more GO terms Cellular component: GO:0000781; chromosome, telomeric region
GO:0000783; nuclear telomere cap complex
GO:0000784; nuclear chromosome, telomeric region
GO:0005634; nucleus
GO:0005654; nucleoplasm
GO:0005737; cytoplasm
GO:0005794; Golgi apparatus
GO:0030870; Mre11 complex
GO:0070187; telosome
Function: GO:0003691; double-stranded telomeric DNA binding
GO:0003720; telomerase activity
GO:0005515; protein binding
GO:0008022; protein C-terminus binding
GO:0042162; telomeric DNA binding
GO:0042803; protein homodimerization activity
GO:0044877; macromolecular complex binding
GO:0098505; G-rich strand telomeric DNA binding
Protein interactions and network
- Protein-protein interacting partners in GenAge
- ATM, WRN, NBN, BRCA1, RPA1, BLM, VCP, HSP90AA1, TOP2A, UBE2I, EP300, TERF1, XRCC5, TERF2, XRCC6, POLD1, PCMT1, HMGB1, BMI1, APEX1, H2AFX, STUB1
- STRING interaction network
Retrieve sequences for TERF2
Homologs in model organisms
In other databases
- GenAge model organism genes
- A homolog of this gene for Mus musculus is present as Terf2
- LongevityMap
- This gene is present as TERF2
- CellAge
- This gene is present as TERF2
Selected references
External links
- EPD
- ORF Accession
- NM_005652
- CDS Accession
- NP_005643
- OMIM
- 602027
- HPRD
- 03610
- Ensembl
- TERF2
- UniProt/Swiss-Prot
- TERF2_HUMAN
- GeneCards
- TERF2
- Entrez Gene
- 7014
- GenAtlas
- TERF2
- Internet
- Search Google