AutismKB 2.0

Annotation Details for CC2D1A


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Basic Information Top
Gene Symbol:CC2D1A ( FLJ20241,FLJ41160,FREUD-1,Freud-1/Aki1,MRT3 )
Gene Full Name: coiled-coil and C2 domain containing 1A
Band: 19p13.12
Quick LinksEntrez ID:54862; OMIM: 610055; Uniprot ID:C2D1A_HUMAN; ENSEMBL ID: ENSG00000132024; HGNC ID: 30237
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001650IDA-fibrillar center-
GO:0005634IBA-nucleus-
GO:0005815IEA-microtubule organizing center-
GO:0005829IDA-cytosol-
GO:0005886IDA-plasma membrane-
GO:0016020IDA-membrane19946888
GO:0070062IDA-extracellular exosome19056867
GO ID Evidence Qualifier GO_term References
GO:0000978IEA-RNA polymerase II core promoter proximal region sequence-specific DNA binding-
GO:0000981IBA-RNA polymerase II transcription factor activity, sequence-specific DNA binding-
GO:0001078IEA-transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding-
GO:0004871IMP-signal transducer activity12761501
GO:0005515IPI-protein binding16730941
GO:0045296IDA-cadherin binding25468996
GO ID Evidence Qualifier GO_term References
GO:0000122IBA-negative regulation of transcription from RNA polymerase II promoter-
GO:0006351IEA-transcription, DNA-templated-
GO:0007165IEA-signal transduction-
GO:0043123IMP-positive regulation of I-kappaB kinase/NF-kappaB signaling12761501
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2384831
  • Data Attributes: 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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