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
Protein-Protein network diagram for TERF2

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

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
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