AutismKB 2.0

Annotation Details for HVCN1


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Basic Information Top
Gene Symbol:HVCN1 ( HV1,MGC15619,VSOP )
Gene Full Name: hydrogen voltage-gated channel 1
Band: 12q24.11
Quick LinksEntrez ID:84329; OMIM: 611227; Uniprot ID:HVCN1_HUMAN; ENSEMBL ID: ENSG00000122986; HGNC ID: 28240
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0005887IDA-integral component of plasma membrane22020278
GO:0016021IDA-integral component of membrane16554753
GO:0030667TAS-secretory granule membrane-
GO:0035579TAS-specific granule membrane-
GO ID Evidence Qualifier GO_term References
GO:0022843TAS-voltage-gated cation channel activity-
GO:0030171IDA-voltage-gated proton channel activity16554753
GO:0030171ISS-voltage-gated proton channel activity16556803
GO ID Evidence Qualifier GO_term References
GO:0009268ISS-response to pH16556803
GO:0010043IDA-response to zinc ion16554753
GO:0010043ISS-response to zinc ion16556803
GO:0015992IDA-proton transport22020278
GO:0015992ISS-proton transport16556803
GO:0034220IEA-ion transmembrane transport-
GO:0034765IEA-regulation of ion transmembrane transport-
GO:0035036TAS-sperm-egg recognition-
GO:0043312TAS-neutrophil degranulation-
GO:0071294IDA-cellular response to zinc ion22020278
GO:0071467IDA-cellular response to pH22020278
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1921346
  • Data Attributes: HomoloGene calculated
No data
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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