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

Display region using the UCSC Genome Browser (GRCh38/hg38)

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

Show all GO terms

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

ORF: ORF
CDS: CDS

Homologs in model organisms

Danio rerio: terfa
Mus musculus: Terf2
Rattus norvegicus: Terf2

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