AutismKB 2.0

Annotation Details for TRPM8


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Basic Information Top
Gene Symbol:TRPM8 ( LTRPC6,MGC2849,TRPP8 )
Gene Full Name: transient receptor potential cation channel, subfamily M, member 8
Band: 2q37.1
Quick LinksEntrez ID:79054; OMIM: 606678; Uniprot ID:TRPM8_HUMAN; ENSEMBL ID: ENSG00000144481; HGNC ID: 17961
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005789IEA-endoplasmic reticulum membrane-
GO:0005886IDA-plasma membrane25559186
GO:0005886TAS-plasma membrane-
GO:0009897IEA-external side of plasma membrane-
GO:0016021IEA-integral component of membrane-
GO:0045121IEA-membrane raft-
GO ID Evidence Qualifier GO_term References
GO:0005262TAS-calcium channel activity-
GO:0005515IPI-protein binding25559186
GO:0042803IEA-protein homodimerization activity-
GO ID Evidence Qualifier GO_term References
GO:0006874IEA-cellular calcium ion homeostasis-
GO:0009409IEA-response to cold-
GO:0016048IEA-detection of temperature stimulus-
GO:0050955IEA-thermoception-
GO:0051289IEA-protein homotetramerization-
GO:0070207IEA-protein homotrimerization-
GO:0070588TAS-calcium ion transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2181435
  • 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