AutismKB 2.0

Annotation Details for TRPV3


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Basic Information Top
Gene Symbol:TRPV3 ( VRL3 )
Gene Full Name: transient receptor potential cation channel, subfamily V, member 3
Band: 17p13.2
Quick LinksEntrez ID:162514; OMIM: 607066; Uniprot ID:TRPV3_HUMAN; ENSEMBL ID: ENSG00000167723; HGNC ID: 18084
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0005887IBA-integral component of plasma membrane-
GO:0043235IDA-receptor complex23382219
GO ID Evidence Qualifier GO_term References
GO:0005262IBA-calcium channel activity-
GO:0005262TAS-calcium channel activity-
GO ID Evidence Qualifier GO_term References
GO:0009408IEA-response to heat-
GO:0042636IMP-negative regulation of hair cycle21593771
GO:0070588TAS-calcium ion transmembrane transport-
GO:0090280IEA-positive regulation of calcium ion import-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2181407
  • Data Attributes: MGI curated and 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