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

Gene ID: 7014, updated on 6-Jan-2019

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
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

Genomic context

See TERF2 in Genome Data Viewer
Location:
16q22.1
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (69355561..69386004, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (69389464..69419891, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene component of oligomeric golgi complex 8 Neighboring gene NIP7, nucleolar pre-rRNA processing protein Neighboring gene transmembrane p24 trafficking protein 6 Neighboring gene transmembrane protein 111 pseudogene Neighboring gene cytochrome b5 type B Neighboring gene uncharacterized LOC105371325

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cellular Senescence, organism-specific biosystem (from REACTOME)
    Cellular Senescence, organism-specific biosystemCellular senescence involves irreversible growth arrest accompanied by phenotypic changes such as enlarged morphology, reorganization of chromatin through formation of senescence-associated heterochr...
  • Cellular responses to stress, organism-specific biosystem (from REACTOME)
    Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
  • Chromosome Maintenance, organism-specific biosystem (from REACTOME)
    Chromosome Maintenance, organism-specific biosystemChromosome maintenance is critical for stable chromosome function in mammalian and other eukaryotic cells. Aspects of telomere maintenance and nucleosome assembly are covered here.
  • DNA Damage/Telomere Stress Induced Senescence, organism-specific biosystem (from REACTOME)
    DNA Damage/Telomere Stress Induced Senescence, organism-specific biosystemReactive oxygen species (ROS), whose concentration increases in senescent cells due to oncogenic RAS-induced mitochondrial dysfunction (Moiseeva et al. 2009) or due to environmental stress, cause DNA...
  • Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex, organism-specific biosystem (from WikiPathways)
    Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex, organism-specific biosystemGABP alpha/beta complex mediates the maintenance of hematopoietic stem cells (HSCs) through control of proteins necessary for epigenetic modification and transcription regulation. The activation of k...
  • Meiosis, organism-specific biosystem (from REACTOME)
    Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
  • Meiotic synapsis, organism-specific biosystem (from REACTOME)
    Meiotic synapsis, organism-specific biosystemMeiotic synapsis is the stable physical pairing of homologous chromosomes that begins in leptonema of prophase I and lasts until anaphase of prophase I. First, short segments of axial elements form a...
  • Packaging Of Telomere Ends, organism-specific biosystem (from REACTOME)
    Packaging Of Telomere Ends, organism-specific biosystemMultiple steps, including C-strand resection, telomerase-mediated elongation, and C-strand synthesis are involved in processing and maintaining the telomere. Though this module posits a linear trans...
  • Regulation of Telomerase, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of Telomerase, organism-specific biosystem
    Regulation of Telomerase
  • Shelterin complex, organism-specific biosystem (from KEGG)
    Shelterin complex, organism-specific biosystemStructural complex; Genetic information processing; Replication system
  • Shelterin complex, conserved biosystem (from KEGG)
    Shelterin complex, conserved biosystemStructural complex; Genetic information processing; Replication system
  • Telomere Maintenance, organism-specific biosystem (from REACTOME)
    Telomere Maintenance, organism-specific biosystemTelomeres are protein-DNA complexes at the ends of linear chromosomes that are important for genome stability. Telomeric DNA in humans, as in many eukaryotic organisms, consists of tandem repeats (B...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
G-rich strand telomeric DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G-rich strand telomeric DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
double-stranded telomeric DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
double-stranded telomeric DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
double-stranded telomeric DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
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
PubMed 
contributes_to telomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
telomeric DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
RNA-dependent DNA biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
anterograde axonal transport of messenger ribonucleoprotein complex IEA
Inferred from Electronic Annotation
more info
 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cellular senescence NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of beta-galactosidase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cellular senescence IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of exonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of t-circle formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of t-circle formation TAS
Traceable Author Statement
more info
PubMed 
negative regulation of telomere capping IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of telomere maintenance IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of telomere maintenance via recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of telomere maintenance via recombination ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of telomere maintenance via semi-conservative replication NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of telomere maintenance via telomerase IC
Inferred by Curator
more info
PubMed 
negative regulation of telomere maintenance via telomerase IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of telomere maintenance via telomerase IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of telomere maintenance via telomere lengthening IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of telomere single strand break repair NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of telomeric D-loop disassembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of telomeric D-loop disassembly IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of nitric-oxide synthase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protection from non-homologous end joining at telomere IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protection from non-homologous end joining at telomere IMP
Inferred from Mutant Phenotype
more info
PubMed 
protection from non-homologous end joining at telomere IPI
Inferred from Physical Interaction
more info
PubMed 
protein localization to chromosome, telomeric region IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to chromosome, telomeric region IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of telomere maintenance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of telomere maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of telomere maintenance via telomerase IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of telomere maintenance via telomerase IDA
Inferred from Direct Assay
more info
PubMed 
regulation of telomere maintenance via telomerase IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
telomere capping IMP
Inferred from Mutant Phenotype
more info
PubMed 
telomere capping NAS
Non-traceable Author Statement
more info
PubMed 
telomere capping TAS
Traceable Author Statement
more info
PubMed 
telomere maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
telomeric D-loop disassembly IGI
Inferred from Genetic Interaction
more info
PubMed 
telomeric loop formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomeric loop formation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with Mre11 complex IDA
Inferred from Direct Assay
more info
PubMed 
axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 
nuclear chromosome, telomeric region HDA PubMed 
nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
nuclear telomere cap complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
shelterin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
shelterin complex IDA
Inferred from Direct Assay
more info
PubMed 
shelterin complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
shelterin complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

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)

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)

  1. NM_005652.5NP_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, ENST00000254942.7
    Conserved Domains (4) summary
    smart00717
    Location:489538
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    cd11660
    Location:490538
    SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family
    cd00280
    Location:87286
    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:318358
    TERF2_RBM; Telomeric repeat-binding factor 2 Rap1-binding motif

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    69355561..69386004 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256123.3XP_005256180.1  telomeric repeat-binding factor 2 isoform X3

    Conserved Domains (4) summary
    smart00717
    Location:488537
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    cd11660
    Location:489537
    SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family
    cd00280
    Location:87286
    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:318358
    TERF2_RBM; Telomeric repeat-binding factor 2 Rap1-binding motif
  2. XM_005256122.3XP_005256179.1  telomeric repeat-binding factor 2 isoform X2

    Conserved Domains (4) summary
    smart00717
    Location:491540
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    cd11660
    Location:492540
    SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family
    cd00280
    Location:87289
    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:321361
    TERF2_RBM; Telomeric repeat-binding factor 2 Rap1-binding motif
  3. XM_005256121.3XP_005256178.1  telomeric repeat-binding factor 2 isoform X1

    Conserved Domains (4) summary
    smart00717
    Location:492541
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    cd11660
    Location:493541
    SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family
    cd00280
    Location:87289
    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:321361
    TERF2_RBM; Telomeric repeat-binding factor 2 Rap1-binding motif
  4. XM_005256124.4XP_005256181.1  telomeric repeat-binding factor 2 isoform X4

    Conserved Domains (4) summary
    smart00717
    Location:411460
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    cd11660
    Location:412460
    SANT_TRF; Telomere repeat binding factor-like DNA-binding domains of the SANT/myb-like family
    pfam16772
    Location:240280
    TERF2_RBM; Telomeric repeat-binding factor 2 Rap1-binding motif
    cl02779
    Location:87202
    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, ...

RNA

  1. XR_001751974.1 RNA Sequence

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