AutismKB 2.0

Annotation Details for TERF2


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Basic Information Top
Gene Symbol:TERF2 ( TRBF2,TRF2 )
Gene Full Name: telomeric repeat binding factor 2
Band: 16q22.1
Quick LinksEntrez ID:7014; OMIM: 602027; Uniprot ID:TERF2_HUMAN; ENSEMBL ID: ENSG00000132604; HGNC ID: 11729
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000781IDA-chromosome, telomeric region12768206
GO:0000783IDA-nuclear telomere cap complex15181449
GO:0000784IDA-nuclear chromosome, telomeric region15109494
GO:0005634IDA-nucleus17055345
GO:0005654TAS-nucleoplasm-
GO:0016604IDA-nuclear body-
GO:0030870IDAcolocalizes_withMre11 complex10888888
GO:0070187IDA-shelterin complex15383534
GO:0070187IMP-shelterin complex21852327
GO:0070187TAS-shelterin complex18202258
GO ID Evidence Qualifier GO_term References
GO:0003691IDA-double-stranded telomeric DNA binding18812185
GO:0003691ISS-double-stranded telomeric DNA binding9326950
GO:0003720IDAcontributes_totelomerase activity23685356
GO:0005515IPI-protein binding10984620
GO:0008022IPI-protein C-terminus binding12181313
GO:0019899IPI-enzyme binding20479256
GO:0042162IDA-telomeric DNA binding19854130
GO:0042803IPI-protein homodimerization activity9326950
GO:0044877IPI-macromolecular complex binding14690602
GO:0098505IDA-G-rich strand telomeric DNA binding17694070
GO ID Evidence Qualifier GO_term References
GO:0000723IMP-telomere maintenance20655466
GO:0006278IEA-RNA-dependent DNA biosynthetic process-
GO:0007049IEA-cell cycle-
GO:0010628IMP-positive regulation of gene expression11927518
GO:0010629IMP-negative regulation of gene expression11927518
GO:0016233IMP-telomere capping12768206
GO:0016233NAS-telomere capping17395247
GO:0016233TAS-telomere capping24095731
GO:0031627IDA-telomeric loop formation10338214
GO:0031848IMP-protection from non-homologous end joining at telomere14690602
GO:0031848IPI-protection from non-homologous end joining at telomere24095731
GO:0032204IMP-regulation of telomere maintenance22536324
GO:0032205IDA-negative regulation of telomere maintenance17055345
GO:0032208IMP-negative regulation of telomere maintenance via recombination15507207
GO:0032208ISS-negative regulation of telomere maintenance via recombination-
GO:0032210IDA-regulation of telomere maintenance via telomerase23685356
GO:0032210IMP-regulation of telomere maintenance via telomerase19864690
GO:0032211IC-negative regulation of telomere maintenance via telomerase15657433
GO:0032211IDA-negative regulation of telomere maintenance via telomerase17055345
GO:0032211IMP-negative regulation of telomere maintenance via telomerase11971978
GO:0032214NAS-negative regulation of telomere maintenance via semi-conservative replication15007108
GO:0051000IMP-positive regulation of nitric-oxide synthase activity11927518
GO:0061820IGI-telomeric D-loop disassembly22039056
GO:0070198IMP-protein localization to chromosome, telomeric region17499040
GO:0090398NAS-cellular senescence17395247
GO:1903770IDA-negative regulation of beta-galactosidase activity11927518
GO:1903824NAS-negative regulation of telomere single strand break repair17395247
GO:1904354IMP-negative regulation of telomere capping24270157
GO:1904357IMP-negative regulation of telomere maintenance via telomere lengthening24012755
GO:1904430IMP-negative regulation of t-circle formation15507207
GO:1904430TAS-negative regulation of t-circle formation19581589
GO:1905778IDA-negative regulation of exonuclease activity15200954
GO:1905839IDA-negative regulation of telomeric D-loop disassembly15200954
GO:2000773IMP-negative regulation of cellular senescence11927518
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
TERF2BLM11287312181313 Reconstituted Complex
TERF2BLM10711012181313 Reconstituted Complex
TERF2BRCA110714019797051 Affinity Capture-Western
TERF2BRCA111287319797051 Affinity Capture-Western
TERF2XRCC611287310984620 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
TERF2XRCC610882210984620 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
TERF2PRMT111287319596784 Affinity Capture-Western; Biochemical Activity
TERF2PRMT110951219596784 Affinity Capture-Western; Biochemical Activity
TERF2MRE11A11287310888888 18212065 Affinity Capture-Western
TERF2MRE11A11050110888888 18212065 Affinity Capture-Western
TERF2NBN11076310888888 Affinity Capture-Western
TERF2NBN11287310888888 Affinity Capture-Western
TERF2ORC111104018761675 Affinity Capture-Western; Reconstituted Complex
TERF2ORC111287318761675 Affinity Capture-Western; Reconstituted Complex
TERF2ORC211287318761675 Affinity Capture-Western; Reconstituted Complex
TERF2ORC211104118761675 Affinity Capture-Western; Reconstituted Complex
TERF2IPTERF211994210850490 10888888 15100233 21217703 Affinity Capture-MS; Affinity Capture-Western; Co-crystal Structure; Reconstituted Complex; Two-hybrid
TERF2IPTERF211287310850490 10888888 15100233 21217703 Affinity Capture-MS; Affinity Capture-Western; Co-crystal Structure; Reconstituted Complex; Two-hybrid
RAD50TERF211287310888888 15100233 18212065 Affinity Capture-MS; Affinity Capture-Western
RAD50TERF211541710888888 15100233 18212065 Affinity Capture-MS; Affinity Capture-Western
WRNTERF211287312181313 18212065 Affinity Capture-Western; Co-localization; Reconstituted Complex
WRNTERF211332312181313 18212065 Affinity Capture-Western; Co-localization; Reconstituted Complex
XRCC5TERF211287315100233 Affinity Capture-Western
XRCC5TERF211335315100233 Affinity Capture-Western
TINF2TERF211766015181449 Affinity Capture-MS
TINF2TERF211287315181449 Affinity Capture-MS
DCLRE1BTERF212233116606622 21217703 Affinity Capture-Western
DCLRE1BTERF211287316606622 21217703 Affinity Capture-Western
ORC6TERF211712918761675 Reconstituted Complex
ORC6TERF211287318761675 Reconstituted Complex
ORC3TERF211287318761675 Reconstituted Complex
ORC3TERF211713018761675 Reconstituted Complex
MUS81TERF211287319363487 Affinity Capture-Western
MUS81TERF212317019363487 Affinity Capture-Western
SLX4TERF212409719596235 Affinity Capture-MS; Affinity Capture-Western
SLX4TERF211287319596235 Affinity Capture-MS; Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1195972
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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