AutismKB 2.0

Annotation Details for C2orf3


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Basic Information Top
Gene Symbol:C2orf3 ( DNABF,GCF,TCF9 )
Gene Full Name: chromosome 2 open reading frame 3
Band: 2p11.2-p11.1
Quick LinksEntrez ID:6936; OMIM: 189901; Uniprot ID:GCF_HUMAN; ENSEMBL ID: ENSG00000005436; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus24304693
GO:0005654IDA-nucleoplasm-
GO:0005654TAS-nucleoplasm-
GO:0005730IDA-nucleolus24304693
GO:0005829IDA-cytosol-
GO:0071008IDA-U2-type post-mRNA release spliceosomal complex24304693
GO ID Evidence Qualifier GO_term References
GO:0000978IDA-RNA polymerase II core promoter proximal region sequence-specific DNA binding9705290
GO:0001078IDA-transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding9705290
GO:0005515IPI-protein binding24304693
GO ID Evidence Qualifier GO_term References
GO:0000122IDA-negative regulation of transcription from RNA polymerase II promoter9705290
GO:0000245IMP-spliceosomal complex assembly24304693
GO:0000398TAS-mRNA splicing, via spliceosome-
GO:0006351IEA-transcription, DNA-templated-
GO:0006355NAS-regulation of transcription, DNA-templated10500253
GO:0045892NAS-negative regulation of transcription, DNA-templated10500253
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2141656
  • 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