AutismKB 2.0

Annotation Details for TERF2IP


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Basic Information Top
Gene Symbol:TERF2IP ( DRIP5,RAP1 )
Gene Full Name: telomeric repeat binding factor 2, interacting protein
Band: 16q23.1
Quick LinksEntrez ID:54386; OMIM: 605061; Uniprot ID:TE2IP_HUMAN; ENSEMBL ID: ENSG00000166848; HGNC ID: 19246
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000228TAS-nuclear chromosome10850490
GO:0000781IDA-chromosome, telomeric region12768206
GO:0000781ISS-chromosome, telomeric region-
GO:0000783IDA-nuclear telomere cap complex15181449
GO:0000784IDA-nuclear chromosome, telomeric region14565979
GO:0005634IDA-nucleus17055345
GO:0005634ISS-nucleus-
GO:0005635IEA-nuclear envelope-
GO:0005654IDA-nucleoplasm-
GO:0005654TAS-nucleoplasm-
GO:0005737IDA-cytoplasm23178297
GO:0005737ISS-cytoplasm-
GO:0005829IDA-cytosol-
GO:0016604IDA-nuclear body-
GO:0030870IDAcolocalizes_withMre11 complex15100233
GO:0070187IDA-shelterin complex15383534
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding14690602
GO:0019902IPI-phosphatase binding23178297
GO:0042162IDA-telomeric DNA binding23685356
GO:0042162TASNOTtelomeric DNA binding10850490
GO:0098505IDA-G-rich strand telomeric DNA binding17694070
GO ID Evidence Qualifier GO_term References
GO:0000723IDA-telomere maintenance14565979
GO:0001933IMP-negative regulation of protein phosphorylation23178297
GO:0006351IEA-transcription, DNA-templated-
GO:0006355IMP-regulation of transcription, DNA-templated23178297
GO:0006355ISS-regulation of transcription, DNA-templated-
GO:0007004TAS-telomere maintenance via telomerase10850490
GO:0010569ISS-regulation of double-strand break repair via homologous recombination-
GO:0010833ISS-telomere maintenance via telomere lengthening-
GO:0016233TAS-telomere capping-
GO:0031848IMP-protection from non-homologous end joining at telomere17499040
GO:0031848ISSNOTprotection from non-homologous end joining at telomere-
GO:0032204IMP-regulation of telomere maintenance15100233
GO:0032205IDA-negative regulation of telomere maintenance17055345
GO:0033138IMP-positive regulation of peptidyl-serine phosphorylation23867755
GO:0043123ISS-positive regulation of I-kappaB kinase/NF-kappaB signaling-
GO:0048239ISS-negative regulation of DNA recombination at telomere-
GO:0051092ISS-positive regulation of NF-kappaB transcription factor activity-
GO:0070198IMP-protein localization to chromosome, telomeric region17499040
GO:1901224IMP-positive regulation of NIK/NF-kappaB signaling23178297
GO:1901985IMP-positive regulation of protein acetylation23867755
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
TERF2IPPARP110665215100233 Affinity Capture-MS
TERF2IPPARP111994215100233 Affinity Capture-MS
TERF2IPAP2B110667216189514 Two-hybrid
TERF2IPAP2B111994216189514 Two-hybrid
TERF2IPXRCC610882215100233 Affinity Capture-MS
TERF2IPXRCC611994215100233 Affinity Capture-MS
TERF2IPMRE11A11994215100233 Affinity Capture-MS
TERF2IPMRE11A11050115100233 Affinity Capture-MS
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
TERF2IPXRCC511335315100233 Affinity Capture-MS; Affinity Capture-Western
TERF2IPXRCC511994215100233 Affinity Capture-MS; Affinity Capture-Western
TERF2IPRAD5011994215100233 Affinity Capture-MS; Affinity Capture-Western
TERF2IPRAD5011541715100233 Affinity Capture-MS; Affinity Capture-Western
TERF2IPTINF211766015181449 Affinity Capture-MS
TERF2IPTINF211994215181449 Affinity Capture-MS
TERF2IPTERF2IP11994210850490 Two-hybrid
SLX4TERF2IP12409719596235 Affinity Capture-MS; Affinity Capture-Western
SLX4TERF2IP11994219596235 Affinity Capture-MS; Affinity Capture-Western
Gene Symbol Interactant Interaction ID References Description
TERF2IPTERF118056215316005 hRap1 interacts with TRF1.
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1929871
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (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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