AutismKB 2.0

Annotation Details for GTF2I


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Basic Information Top
Gene Symbol:GTF2I ( BAP135,BTKAP1,DIWS,FLJ38776,FLJ56355,GTFII-I,IB291,SPIN,TFII-I,WBS,WBSCR6 )
Gene Full Name: general transcription factor IIi
Band: 7q11.23
Quick LinksEntrez ID:2969; OMIM: 601679; Uniprot ID:GTF2I_HUMAN; ENSEMBL ID: ENSG00000077809; HGNC ID: 4659
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus19242469
GO:0005654IBA-nucleoplasm-
GO:0005654IDA-nucleoplasm-
GO:0005737IBA-cytoplasm-
GO:0016020IDA-membrane19946888
GO:0042995IEA-cell projection-
GO:0043025IEA-neuronal cell body-
GO ID Evidence Qualifier GO_term References
GO:0000981IBA-RNA polymerase II transcription factor activity, sequence-specific DNA binding-
GO:0003677IBA-DNA binding-
GO:0003700NAS-transcription factor activity, sequence-specific DNA binding9334314
GO:0005515IPI-protein binding9012831
GO:0051019IEA-mitogen-activated protein kinase binding-
GO ID Evidence Qualifier GO_term References
GO:0006357IEA-regulation of transcription from RNA polymerase II promoter-
GO:0006366TAS-transcription from RNA polymerase II promoter9334314
GO:0006367TAS-transcription initiation from RNA polymerase II promoter9334314
GO:0007165TAS-signal transduction9012831
GO:0014886IEA-transition between slow and fast fiber-
GO:0016525IDA-negative regulation of angiogenesis19242469
GO:0051481IEA-negative regulation of cytosolic calcium ion concentration-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
GTF2IBTK1071609012831 10373551 14623887 15096481 Affinity Capture-Western; Reconstituted Complex
GTF2IBTK1092249012831 10373551 14623887 15096481 Affinity Capture-Western; Reconstituted Complex
USF1GTF2I1132371961251 9384587 16943425 Affinity Capture-Western; Reconstituted Complex
USF1GTF2I1092241961251 9384587 16943425 Affinity Capture-Western; Reconstituted Complex
MYCGTF2I1106948377829 Affinity Capture-Western; Reconstituted Complex
MYCGTF2I1092248377829 Affinity Capture-Western; Reconstituted Complex
PRRX1GTF2I1114059334314 Co-purification
PRRX1GTF2I1092249334314 Co-purification
SRFGTF2I1126009334314 9584171 Co-purification; Reconstituted Complex
SRFGTF2I1092249334314 9584171 Co-purification; Reconstituted Complex
STAT1GTF2I1126499584171 Reconstituted Complex
STAT1GTF2I1092249584171 Reconstituted Complex
STAT3GTF2I1126519584171 Reconstituted Complex
STAT3GTF2I1092249584171 Reconstituted Complex
MAPK3GTF2I11158110648599 Affinity Capture-Western; Biochemical Activity
MAPK3GTF2I10922410648599 Affinity Capture-Western; Biochemical Activity
STX7GTF2I11400311278762 Affinity Capture-MS
STX7GTF2I10922411278762 Affinity Capture-MS
ATF6GTF2I11658611287625 Affinity Capture-Western
ATF6GTF2I10922411287625 Affinity Capture-Western
PRKG1GTF2I11157812082086 Affinity Capture-Western; Reconstituted Complex
PRKG1GTF2I10922412082086 Affinity Capture-Western; Reconstituted Complex
HDAC3GTF2I11436812239342 12393887 16943425 17970752 Affinity Capture-Western; Reconstituted Complex
HDAC3GTF2I10922412239342 12393887 16943425 17970752 Affinity Capture-Western; Reconstituted Complex
HDAC2GTF2I10922412393887 12493763 Affinity Capture-MS; Affinity Capture-Western
HDAC2GTF2I10931612393887 12493763 Affinity Capture-MS; Affinity Capture-Western
HDAC1GTF2I10931512393887 Affinity Capture-Western
HDAC1GTF2I10922412393887 Affinity Capture-Western
KDM1AGTF2I11666712493763 Affinity Capture-MS; Affinity Capture-Western
KDM1AGTF2I10922412493763 Affinity Capture-MS; Affinity Capture-Western
PHF21AGTF2I11946812493763 Affinity Capture-Western
PHF21AGTF2I10922412493763 Affinity Capture-Western
BCL2L11GTF2I10922415096481 Reconstituted Complex
BCL2L11GTF2I11533515096481 Reconstituted Complex
NAA38GTF2I11967915231747 Two-hybrid
NAA38GTF2I10922415231747 Two-hybrid
SMAD2GTF2I11026216055724 Affinity Capture-Western
SMAD2GTF2I10922416055724 Affinity Capture-Western
SRRM1GTF2I11554416159877 Affinity Capture-MS
SRRM1GTF2I10922416159877 Affinity Capture-MS
SRRM2GTF2I11707116159877 Affinity Capture-MS
SRRM2GTF2I10922416159877 Affinity Capture-MS
PTP4A3GTF2I11632717353931 Affinity Capture-MS
PTP4A3GTF2I10922417353931 Affinity Capture-MS
MEPCEGTF2I12112217643375 Affinity Capture-MS
MEPCEGTF2I10922417643375 Affinity Capture-MS
TOPORSGTF2I11550517803295 Affinity Capture-MS
TOPORSGTF2I10922417803295 Affinity Capture-MS
SUZ12GTF2I11705917970752 Affinity Capture-Western
SUZ12GTF2I10922417970752 Affinity Capture-Western
SUV420H2GTF2I12425719486527 Affinity Capture-MS
SUV420H2GTF2I10922419486527 Affinity Capture-MS
USP7GTF2I11362219615732 Affinity Capture-MS
USP7GTF2I10922419615732 Affinity Capture-MS
OTUB2GTF2I12246119615732 Affinity Capture-MS
OTUB2GTF2I10922419615732 Affinity Capture-MS
Gene Symbol Interactant Interaction ID References Description
HDAC3GTF2I18545212239342 HDAC3 interacts with TFII-I. This interaction was modeled on a demonstrated interaction between HDAC3 and TFII-I isoforms both from unspecified species.
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1202722
  • 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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