AutismKB 2.0

Annotation Details for CPNE6


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Basic Information Top
Gene Symbol:CPNE6 ( N-COPINE )
Gene Full Name: copine VI (neuronal)
Band: 14q11.2
Quick LinksEntrez ID:9362; OMIM: 605688; Uniprot ID:CPNE6_HUMAN; ENSEMBL ID: ENSG00000100884; HGNC ID: 2319
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005768IEA-endosome-
GO:0005886TAS-plasma membrane-
GO:0016020ISS-membrane-
GO:0030424ISS-axon-
GO:0030425ISS-dendrite-
GO:0043204IEA-perikaryon-
GO:0045334IEA-clathrin-coated endocytic vesicle-
GO:0070062IDA-extracellular exosome23533145
GO ID Evidence Qualifier GO_term References
GO:0001786ISS-phosphatidylserine binding-
GO:0005215TAS-transporter activity9645480
GO:0005509TAS-calcium ion binding9645480
GO ID Evidence Qualifier GO_term References
GO:0006629TAS-lipid metabolic process9645480
GO:0007268TAS-chemical synaptic transmission9645480
GO:0007399TAS-nervous system development9645480
GO:0016192TAS-vesicle-mediated transport9645480
GO:0046474TAS-glycerophospholipid biosynthetic process-
GO:0071277IEA-cellular response to calcium ion-
GO:1903861IDA-positive regulation of dendrite extension23999003
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
AK5CPNE611476316169070 Two-hybrid
AK5CPNE611767016169070 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1334445
  • 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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