• Gene id: 51393

Gene Summary

• Gene Symbol: TRPV2   Gene   UCSC   Ensembl
• Aliases: VRL, VRL-1, VRL1
• Gene name: transient receptor potential cation channel subfamily V member 2
• Alternate names: transient receptor potential cation channel subfamily V member 2, OTRPC2, osm-9-like TRP channel 2, vanilloid receptor-like protein 1,
• Gene location: 17p11.2 (16415542: 16437002)     Exons: 30     NC_000017.11
• Gene summary(Entrez): This gene encodes an ion channel that is activated by high temperatures above 52 degrees Celsius. The protein may be involved in transduction of high-temperature heat responses in sensory ganglia. It is thought that in other tissues the channel may be act
• OMIM: 606676

SNPs

rs2855658

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.38069747T>C
NC_000002.11   g.38296890T>C
NG_008386.2   g.11355A>G
NM_000104.3   c.*975A>G|SEQ=[T/C]|GENE=CYP1B1
RMDN2   151393

Protein Summary

• Protein general information: Q9Y5S1  
  • Name: Transient receptor potential cation channel subfamily V member 2 (TrpV2) (Osm 9 like TRP channel 2) (OTRPC2) (Vanilloid receptor like protein 1) (VRL 1)
  • Length: 764  
  • Mass: 85981
• Sequence:

  MTSPSSSPVFRLETLDGGQEDGSEADRGKLDFGSGLPPMESQFQGEDRKFAPQIRVNLNYRKGTGASQPDPNRFD
  RDRLFNAVSRGVPEDLAGLPEYLSKTSKYLTDSEYTEGSTGKTCLMKAVLNLKDGVNACILPLLQIDRDSGNPQP
  LVNAQCTDDYYRGHSALHIAIEKRSLQCVKLLVENGANVHARACGRFFQKGQGTCFYFGELPLSLAACTKQWDVV
  SYLLENPHQPASLQATDSQGNTVLHALVMISDNSAENIALVTSMYDGLLQAGARLCPTVQLEDIRNLQDLTPLKL
  AAKEGKIEIFRHILQREFSGLSHLSRKFTEWCYGPVRVSLYDLASVDSCEENSVLEIIAFHCKSPHRHRMVVLEP
  LNKLLQAKWDLLIPKFFLNFLCNLIYMFIFTAVAYHQPTLKKQAAPHLKAEVGNSMLLTGHILILLGGIYLLVGQ
  LWYFWRRHVFIWISFIDSYFEILFLFQALLTVVSQVLCFLAIEWYLPLLVSALVLGWLNLLYYTRGFQHTGIYSV
  MIQKVILRDLLRFLLIYLVFLFGFAVALVSLSQEAWRPEAPTGPNATESVQPMEGQEDEGNGAQYRGILEASLEL
  FKFTIGMGELAFQEQLHFRGMVLLLLLAYVLLTYILLLNMLIALMSETVNSVATDSWSIWKLQKAISVLEMENGY
  WWCRKKQRAGVMLTVGTKPDGSPDERWCFRVEEVNWASWEQTLPTLCEDPSGAGVPRTLENPVLASPPKEDEDGA
  SEENYVPVQLLQSN

• Structural information:
  • Interpro: IPR002110  IPR020683  IPR036770  IPR005821  IPR024862   IPR008347  IPR024865  
  • Prosite: PS50297 PS50088
  • PDB: 2F37
  • PDBsum: 2F37
  • STRING: ENSP00000342222
• Other Databases: GeneCards:  TRPV2  Malacards:  TRPV2

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:0009408	response to heat	IEA	biological process
GO:0005216	ion channel activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
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:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0005262	calcium channel activity	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005216	ion channel activity	TAS	molecular function
GO:0015075	ion transmembrane transporter activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007600	sensory perception	TAS	biological process
GO:0009266	response to temperature stimulus	IDA	biological process
GO:0005261	cation channel activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0070588	calcium ion transmembrane transport	TAS	biological process
GO:0005261	cation channel activity	IEA	molecular function
GO:0005262	calcium channel activity	IEA	molecular function
GO:0030424	axon	IEA	cellular component
GO:0032584	growth cone membrane	IEA	cellular component
GO:0044295	axonal growth cone	IEA	cellular component
GO:0044297	cell body	IEA	cellular component
GO:0045773	positive regulation of axon extension	IEA	biological process
GO:0090280	positive regulation of calcium ion import	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04621	NOD-like receptor signaling pathway
hsa04750	Inflammatory mediator regulation of TRP channels

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray