Gene Gene information from NCBI Gene database.
Entrez ID 7014
Gene name Telomeric repeat binding factor 2
Gene symbol TERF2
Synonyms (NCBI Gene)
TRBF2TRF2
Chromosome 16
Chromosome location 16q22.1
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 i
miRNA miRNA information provided by mirtarbase database.
492
miRTarBase ID miRNA Experiments Reference
MIRT023208 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT030265 hsa-miR-26b-5p Microarray 19088304
MIRT049699 hsa-miR-92a-3p CLASH 23622248
MIRT048736 hsa-miR-96-5p CLASH 23622248
MIRT046463 hsa-miR-15b-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SP1 Activation 19783902
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
91
GO ID Ontology Definition Evidence Reference
GO:0000723 Process Telomere maintenance IDA 28216226
GO:0000723 Process Telomere maintenance IEA
GO:0000723 Process Telomere maintenance IEA
GO:0000723 Process Telomere maintenance IMP 20655466
GO:0000781 Component Chromosome, telomeric region HDA 19135898
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602027 11729 ENSG00000132604
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15554
Protein name Telomeric repeat-binding factor 2 (TTAGGG repeat-binding factor 2) (Telomeric DNA-binding protein)
Protein function Binds the telomeric double-stranded 5'-TTAGGG-3' repeat and plays a central role in telomere maintenance and protection against end-to-end fusion of chromosomes (PubMed:15608617, PubMed:16166375, PubMed:20655466, PubMed:28216226, PubMed:9326950,
PDB 1H6P , 1VF9 , 1VFC , 1W0U , 1XG1 , 3BU8 , 3BUA , 3K6G , 3SJM , 4M7C , 4RQI , 5WQD , 5XYF , 6J67 , 7C5D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08558 TRF 94 293 Telomere repeat binding factor (TRF) Domain
PF16772 TERF2_RBM 318 358 Telomeric repeat-binding factor 2 Rap1-binding motif Domain
PF00249 Myb_DNA-binding 489 537 Myb-like DNA-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highly expressed in spleen, thymus, prostate, uterus, testis, small intestine, colon and peripheral blood leukocytes. {ECO:0000269|PubMed:9326950}.
Sequence
MAAGAGTAGPASGPGVVRDPAASQPRKRPGREGGEGARRSDTMAGGGGSSDGSGRAAGRR
ASRSSGRARRGRHEPGLGGPAERGAGEARLEEAVNRWVLKFYFHEALRAFRGSRYGDFRQ
IRDIMQALLVRPLGKEHTVSRLLRVMQCLSRIEEGENLDCSFDMEAELTPLESAINVLEM
IKTEFTLTEAVVESSRKLVKEAAVIICIKNKEFEKASKILKKHMSKDPTTQKLRNDLLNI
IREKNLAHPVIQNFSYETFQQKMLRFLESHLDDAEPYLLTMAKKALKSESAAS
STGKEDK
QPAPGPVEKPPREPARQLRNPPTTIGMMTLKAAFKTLSGAQDSEAAFAKLDQKDLVLPTQ
ALPASPALKNKRPRKDENESSAPADGEGGSELQPKNKRMTISRLVLEEDSQSTEPSAGLN
SSQEAASAPPSKPTVLNQPLPGEKNPKVPKGKWNSSNGVEEKETWVEEDELFQVQAAPDE
DSTTNITKKQKWTVEESEWVKAGVQKYGEGNWAAISKNYPFVNRTAVMIKDRWRTMKRLG
MN
Sequence length 542
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Recognition and association of DNA glycosylase with site containing an affected purine
Cleavage of the damaged purine
Packaging Of Telomere Ends
Telomere Extension By Telomerase
DNA Damage/Telomere Stress Induced Senescence
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
17
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Benign rs35439397, rs12325060 RCV005921812
RCV005923375
Lung cancer Benign rs9925538 RCV005922079
Malignant lymphoma, large B-cell, diffuse Benign rs35439397, rs12325060 RCV005921810
RCV005923373
Malignant tumor of esophagus Benign rs9925538 RCV005922078
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adrenocortical Carcinoma Associate 27165744
Alternating hemiplegia of childhood Associate 23708666, 25609072
Anodontia Associate 28436953
Astrocytoma Inhibit 23691191
Bloom Syndrome Associate 12181313
Brain Neoplasms Associate 23691191
Breast Neoplasms Associate 15735711, 20625812, 22527105, 23342266, 23629941, 29328377, 37858982, 40352198
Carcinogenesis Associate 15735711, 18641004, 23570868, 27923994
Carcinoma Hepatocellular Associate 27782152, 29725012
Carcinoma Renal Cell Associate 25730259