TERF2 telomeric repeat binding factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TERF2provided by HGNC
Official Full Name: telomeric repeat binding factor 2provided by HGNC
Primary source: HGNC:HGNC:11729
See related: Ensembl:ENSG00000132604 MIM:602027; AllianceGenome:HGNC:11729
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TRF2; TRBF2
Summary: This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negative regulator of telomere length and plays a key role in the protective activity of telomeres. While having similar telomere binding activity and domain organization, TERF2 differs from TERF1 in that its N terminus is basic rather than acidic. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 13.1), lymph node (RPKM 12.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q22.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (69355567..69386007, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (75157261..75188141, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (69389470..69419910, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The novel TERF2::PDGFRB fusion gene enhances tumorigenesis via PDGFRB/STAT5 signalling pathways and sensitivity to TKI in ph-like ALL.
Title: The novel TERF2::PDGFRB fusion gene enhances tumorigenesis via PDGFRB/STAT5 signalling pathways and sensitivity to TKI in ph-like ALL.
The shelterin component TRF2 mediates columnar stacking of human telomeric chromatin.
Title: The shelterin component TRF2 mediates columnar stacking of human telomeric chromatin.
The telomeric protein TERF2/TRF2 impairs HMGB1-driven autophagy.
Title: The telomeric protein TERF2/TRF2 impairs HMGB1-driven autophagy.
Phosphorylation of TRF2 promotes its interaction with TIN2 and regulates DNA damage response at telomeres.
Title: Phosphorylation of TRF2 promotes its interaction with TIN2 and regulates DNA damage response at telomeres.
TRF2 rescues telomere attrition and prolongs cell survival in Duchenne muscular dystrophy cardiomyocytes derived from human iPSCs.
Title: TRF2 rescues telomere attrition and prolongs cell survival in Duchenne muscular dystrophy cardiomyocytes derived from human iPSCs.
In Vitro Characterization of the Physical Interactions between the Long Noncoding RNA TERRA and the Telomeric Proteins TRF1 and TRF2.
Title: In Vitro Characterization of the Physical Interactions between the Long Noncoding RNA TERRA and the Telomeric Proteins TRF1 and TRF2.
TRF2 inhibition rather than telomerase disruption drives CD4T cell dysfunction during chronic viral infection.
Title: TRF2 inhibition rather than telomerase disruption drives CD4T cell dysfunction during chronic viral infection.
TRF2 cooperates with CTCF for controlling the oncomiR-193b-3p in colorectal cancer.
Title: TRF2 cooperates with CTCF for controlling the oncomiR-193b-3p in colorectal cancer.
Compartmentalization of telomeres through DNA-scaffolded phase separation.
Title: Compartmentalization of telomeres through DNA-scaffolded phase separation.
TRF2 recruits nucleolar protein TCOF1 to coordinate telomere transcription and replication.
Title: TRF2 recruits nucleolar protein TCOF1 to coordinate telomere transcription and replication.

Submit: New GeneRIF Correction See all GeneRIFs (164)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of telomeric repeat binding factor 2 (TERF2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH119887 (e-PCR)
- UniSTS:133632

D11S2921 (e-PCR)
- UniSTS:152074

TERF2_1083 (e-PCR)
- UniSTS:277804

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

RH65311 (e-PCR)
- UniSTS:83771

RH65061 (e-PCR)
- UniSTS:91711

D11S3114 (e-PCR)
- UniSTS:152207

SHGC-60576 (e-PCR)
- UniSTS:42167

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G-rich strand telomeric DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables G-rich strand telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables double-stranded telomeric DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables double-stranded telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables double-stranded telomeric DNA binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to telomerase activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to telomerase activity	IDA Inferred from Direct Assay more info	PubMed
enables telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA-templated DNA biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in anterograde axonal transport	IEA Inferred from Electronic Annotation more info
involved_in axonal transport of messenger ribonucleoprotein complex	IEA Inferred from Electronic Annotation more info
involved_in cell cycle	IEA Inferred from Electronic Annotation more info
involved_in cellular senescence	NAS Non-traceable Author Statement more info	PubMed
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of beta-galactosidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cellular senescence	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of exonuclease activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of t-circle formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of t-circle formation	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of telomere capping	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of telomere maintenance via recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of telomere maintenance via recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of telomere maintenance via recombination	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of telomere maintenance via semi-conservative replication	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of telomere maintenance via telomerase	IC Inferred by Curator more info	PubMed
involved_in negative regulation of telomere maintenance via telomerase	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of telomere maintenance via telomerase	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of telomere maintenance via telomere lengthening	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of telomere single strand break repair	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of telomeric D-loop disassembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of telomeric D-loop disassembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of nitric-oxide synthase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of telomere maintenance	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of telomere maintenance	NAS Non-traceable Author Statement more info	PubMed
involved_in protection from non-homologous end joining at telomere	IBA Inferred from Biological aspect of Ancestor more info
involved_in protection from non-homologous end joining at telomere	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protection from non-homologous end joining at telomere	IPI Inferred from Physical Interaction more info	PubMed
involved_in protein localization to chromosome, telomeric region	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to chromosome, telomeric region	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of telomere maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of telomere maintenance via telomerase	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of telomere maintenance via telomerase	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of telomere maintenance via telomerase	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomere capping	IDA Inferred from Direct Assay more info	PubMed
involved_in telomere capping	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomere capping	NAS Non-traceable Author Statement more info	PubMed
involved_in telomere capping	TAS Traceable Author Statement more info	PubMed
involved_in telomere maintenance	IDA Inferred from Direct Assay more info	PubMed
involved_in telomere maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomeric D-loop disassembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomeric D-loop disassembly	IGI Inferred from Genetic Interaction more info	PubMed
involved_in telomeric loop formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomeric loop formation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
located_in chromosome, telomeric region	HDA more info	PubMed
is_active_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in male germ cell nucleus	IEA Inferred from Electronic Annotation more info
located_in nuclear body	IDA Inferred from Direct Assay more info
part_of nuclear telomere cap complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of shelterin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of shelterin complex	IDA Inferred from Direct Assay more info	PubMed
part_of shelterin complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of shelterin complex	IPI Inferred from Physical Interaction more info	PubMed
part_of shelterin complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: telomeric repeat-binding factor 2

Names: TTAGGG repeat-binding factor 2; telomeric DNA-binding protein; telomeric repeat binding protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_005652.5 → NP_005643.2 telomeric repeat-binding factor 2

See identical proteins and their annotated locations for NP_005643.2

Status: REVIEWED

Source sequence(s)

AC026464, AF002999, BX090758, CB216181, HY046320

Consensus CDS

CCDS10879.2

UniProtKB/Swiss-Prot

Q15554

Related

ENSP00000254942.3, ENST00000254942.8

Conserved Domains (4) summary

smart00717
Location:489 → 538

SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

cd11660
Location:490 → 538

SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family

cd00280
Location:87 → 286

TRFH; Telomeric Repeat binding Factor or TTAGGG Repeat binding Factor, central (dimerization) domain Homology; TRFH. Telomeres are protein/DNA complexes that make up the physical ends of eukaryotic linear chromosomes and are essential for chromosome stability, ...

pfam16772
Location:318 → 358

TERF2_RBM; Telomeric repeat-binding factor 2 Rap1-binding motif

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

69355567..69386007 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005256124.5 → XP_005256181.1 telomeric repeat-binding factor 2 isoform X5

Conserved Domains (4) summary

smart00717
Location:411 → 460

SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

cd11660
Location:412 → 460

SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family

pfam16772
Location:240 → 280

TERF2_RBM; Telomeric repeat-binding factor 2 Rap1-binding motif

cl02779
Location:87 → 202

TRFH; Telomeric Repeat binding Factor or TTAGGG Repeat binding Factor, central (dimerization) domain Homology; TRFH. Telomeres are protein/DNA complexes that make up the physical ends of eukaryotic linear chromosomes and are essential for chromosome stability, ...
XM_005256123.4 → XP_005256180.1 telomeric repeat-binding factor 2 isoform X3

Conserved Domains (4) summary

smart00717
Location:488 → 537

SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

cd11660
Location:489 → 537

SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family

cd00280
Location:87 → 286

TRFH; Telomeric Repeat binding Factor or TTAGGG Repeat binding Factor, central (dimerization) domain Homology; TRFH. Telomeres are protein/DNA complexes that make up the physical ends of eukaryotic linear chromosomes and are essential for chromosome stability, ...

pfam16772
Location:318 → 358

TERF2_RBM; Telomeric repeat-binding factor 2 Rap1-binding motif
XM_005256122.4 → XP_005256179.1 telomeric repeat-binding factor 2 isoform X2

Conserved Domains (4) summary

smart00717
Location:491 → 540

SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

cd11660
Location:492 → 540

SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family

cd00280
Location:87 → 289

TRFH; Telomeric Repeat binding Factor or TTAGGG Repeat binding Factor, central (dimerization) domain Homology; TRFH. Telomeres are protein/DNA complexes that make up the physical ends of eukaryotic linear chromosomes and are essential for chromosome stability, ...

pfam16772
Location:321 → 361

TERF2_RBM; Telomeric repeat-binding factor 2 Rap1-binding motif
XM_005256121.4 → XP_005256178.1 telomeric repeat-binding factor 2 isoform X1

Conserved Domains (4) summary

smart00717
Location:492 → 541

SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

cd11660
Location:493 → 541

SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family

cd00280
Location:87 → 289

TRFH; Telomeric Repeat binding Factor or TTAGGG Repeat binding Factor, central (dimerization) domain Homology; TRFH. Telomeres are protein/DNA complexes that make up the physical ends of eukaryotic linear chromosomes and are essential for chromosome stability, ...

pfam16772
Location:321 → 361

TERF2_RBM; Telomeric repeat-binding factor 2 Rap1-binding motif
XM_047434552.1 → XP_047290508.1 telomeric repeat-binding factor 2 isoform X4