AutismKB 2.0

Annotation Details for C2CD3


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Basic Information Top
Gene Symbol:C2CD3 ( DKFZp586P0123,FLJ34770 )
Gene Full Name: C2 calcium-dependent domain containing 3
Band: 11q13.4
Quick LinksEntrez ID:26005; OMIM: NA; Uniprot ID:C2CD3_HUMAN; ENSEMBL ID: ENSG00000168014; HGNC ID: 24564
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005813IDA-centrosome21399614
GO:0005814IDA-centriole23769972
GO:0005829TAS-cytosol-
GO:0034451IDA-centriolar satellite24997988
GO:0036064IEA-ciliary basal body-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding24997988
GO ID Evidence Qualifier GO_term References
GO:0001701IEA-in utero embryonic development-
GO:0001947IEA-heart looping-
GO:0007420IEA-brain development-
GO:0008589IEA-regulation of smoothened signaling pathway-
GO:0016485IEA-protein processing-
GO:0021915IEA-neural tube development-
GO:0021997IEA-neural plate axis specification-
GO:0030162IEA-regulation of proteolysis-
GO:0042733IEA-embryonic digit morphogenesis-
GO:0061511IDA-centriole elongation24997988
GO:0071539IDA-protein localization to centrosome24997988
GO:0097711TAS-ciliary basal body docking-
GO:1905515IMP-non-motile cilium assembly23769972
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2142166
  • 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