• Gene id: 162514

Gene Summary

• Gene Symbol: TRPV3   Gene   UCSC   Ensembl
• Aliases: FNEPPK2, OLMS, VRL3
• Gene name: transient receptor potential cation channel subfamily V member 3
• Alternate names: transient receptor potential cation channel subfamily V member 3, VRL-3, vanilloid receptor-like 3, vanilloid receptor-related osmotically activated channel protein,
• Gene location: 17p13.2 (3557811: 3510501)     Exons: 18     NC_000017.11
• Gene summary(Entrez): This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that

Protein Summary

• Protein general information: Q8NET8  
  • Name: Transient receptor potential cation channel subfamily V member 3 (TrpV3) (Vanilloid receptor like 3) (VRL 3)
  • Length: 790  
  • Mass: 90636
  • Tissue specificity: Abundantly expressed in CNS. Widely expressed at low levels. Detected in dorsal root ganglion (at protein level). Expressed in the keratinocyte layers of the outer root sheath and, to lesser extent, to the matrix of the hair follicles
• Sequence:

  MKAHPKEMVPLMGKRVAAPSGNPAILPEKRPAEITPTKKSAHFFLEIEGFEPNPTVAKTSPPVFSKPMDSNIRQC
  ISGNCDDMDSPQSPQDDVTETPSNPNSPSAQLAKEEQRRKKRRLKKRIFAAVSEGCVEELVELLVELQELCRRRH
  DEDVPDFLMHKLTASDTGKTCLMKALLNINPNTKEIVRILLAFAEENDILGRFINAEYTEEAYEGQTALNIAIER
  RQGDIAALLIAAGADVNAHAKGAFFNPKYQHEGFYFGETPLALAACTNQPEIVQLLMEHEQTDITSRDSRGNNIL
  HALVTVAEDFKTQNDFVKRMYDMILLRSGNWELETTRNNDGLTPLQLAAKMGKAEILKYILSREIKEKRLRSLSR
  KFTDWAYGPVSSSLYDLTNVDTTTDNSVLEITVYNTNIDNRHEMLTLEPLHTLLHMKWKKFAKHMFFLSFCFYFF
  YNITLTLVSYYRPREEEAIPHPLALTHKMGWLQLLGRMFVLIWAMCISVKEGIAIFLLRPSDLQSILSDAWFHFV
  FFIQAVLVILSVFLYLFAYKEYLACLVLAMALGWANMLYYTRGFQSMGMYSVMIQKVILHDVLKFLFVYIVFLLG
  FGVALASLIEKCPKDNKDCSSYGSFSDAVLELFKLTIGLGDLNIQQNSKYPILFLFLLITYVILTFVLLLNMLIA
  LMGETVENVSKESERIWRLQRARTILEFEKMLPEWLRSRFRMGELCKVAEDDFRLCLRINEVKWTEWKTHVSFLN
  EDPGPVRRTDFNKIQDSSRNNSKTTLNAFEEVEEFPETSV

• Structural information:
  • Interpro: IPR002110  IPR020683  IPR036770  IPR005821  IPR024862   IPR008347  IPR024866  
  • Prosite: PS50297 PS50088
  • PDB: 6H9J 6HA6 6MHO 6MHS 6MHV 6MHW 6MHX 6OT2 6OT5
  • PDBsum: 6H9J 6HA6 6MHO 6MHS 6MHV 6MHW 6MHX 6OT2 6OT5
  • STRING: ENSP00000301365
• Other Databases: GeneCards:  TRPV3  Malacards:  TRPV3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005262	calcium channel activity	IBA	molecular function
GO:0098703	calcium ion import across plasma membrane	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0005216	ion channel activity	IBA	molecular function
GO:0042636	negative regulation of hair cycle	IMP	biological process
GO:0009266	response to temperature stimulus	IEA	biological process
GO:0005216	ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0005262	calcium channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0043235	receptor complex	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0070588	calcium ion transmembrane transport	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005216	ion channel activity	IEA	molecular function
GO:0009266	response to temperature stimulus	IEA	biological process
GO:0005261	cation channel activity	IEA	molecular function
GO:0090280	positive regulation of calcium ion import	IEA	biological process
GO:0009408	response to heat	IEA	biological process
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04750	Inflammatory mediator regulation of TRP channels

Diseases

Associated diseases	References
Focal nonepidermolytic palmoplantar keratoderma	KEGG:H02263
Focal nonepidermolytic palmoplantar keratoderma	KEGG:H02263
Congenital stationary night blindness	PMID:19878917
migraine with aura	PMID:22162417
Schizophrenia	PMID:21970977
colorectal cancer	PMID:20042636
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq