Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7014
Gene name Gene Name - the full gene name approved by the HGNC.
Telomeric repeat binding factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TERF2
Synonyms (NCBI Gene) Gene synonyms aliases
TRBF2, TRF2
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 factor Regulation Reference
SP1 Activation 19783902
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000723 Process Telomere maintenance IMP 20655466
GO:0000781 Component Chromosome, telomeric region HDA 19135898
GO:0000781 Component Chromosome, telomeric region IDA 12768206, 15109494, 20479256, 20655466, 23685356, 24012755, 24270157
GO:0000783 Component Nuclear telomere cap complex IDA 15181449, 16880378
GO:0001673 Component Male germ cell nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602027 11729 ENSG00000132604
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Metabolic Syndrome Metabolic Syndrome GWAS
Associations from Text Mining
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