TRPV5 (transient receptor potential cation channel subfamily V member 5)

2009-08-01  

Identity

HGNC
LOCATION
7q34
LOCUSID
ALIAS
CAT2,ECAC1,OTRPC3

Other Information

Locus ID:

NCBI: 56302
MIM: 606679
HGNC: 3145
Ensembl: ENSG00000127412

Variants:

dbSNP: 56302
ClinVar: 56302
TCGA: ENSG00000127412
COSMIC: TRPV5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000127412ENST00000265310A0A0A6YY98
ENSG00000127412ENST00000439304H7C2J6
ENSG00000127412ENST00000442623Q9NQA5

Expression (GTEx)

0
1
2

Pathways

PathwaySourceExternal ID
Endocrine and other factor-regulated calcium reabsorptionKEGGko04961
Endocrine and other factor-regulated calcium reabsorptionKEGGhsa04961
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351
TRP channelsREACTOMER-HSA-3295583

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
386945102024The ion channel TRPV5 regulates B-cell signaling and activation.1
386945102024The ion channel TRPV5 regulates B-cell signaling and activation.1
371986472023Alterations in the microenvironment and the effects produced of TRPV5 in osteoporosis.0
371986472023Alterations in the microenvironment and the effects produced of TRPV5 in osteoporosis.0
360885852022Association of TRPV5, CASR, and CALCR genetic variants with kidney stone disease susceptibility in Egyptians through main effects and gene-gene interactions.2
360885852022Association of TRPV5, CASR, and CALCR genetic variants with kidney stone disease susceptibility in Egyptians through main effects and gene-gene interactions.2
314288482020Association of TRPV5 gene polymorphism with calcium urolithiasis: a case-control study from West Bengal, India.2
314288482020Association of TRPV5 gene polymorphism with calcium urolithiasis: a case-control study from West Bengal, India.2
306668302019Association between single nucleotide polymorphism (rs4252424) in TRPV5 calcium channel gene and lead poisoning in Chinese workers.2
314711612019TRPV5 in renal tubular calcium handling and its potential relevance for nephrolithiasis.6
306668302019Association between single nucleotide polymorphism (rs4252424) in TRPV5 calcium channel gene and lead poisoning in Chinese workers.2
314711612019TRPV5 in renal tubular calcium handling and its potential relevance for nephrolithiasis.6
293232792018Structural basis of TRPV5 channel inhibition by econazole revealed by cryo-EM.69
293232792018Structural basis of TRPV5 channel inhibition by econazole revealed by cryo-EM.69
288477302017The L530R variation associated with recurrent kidney stones impairs the structure and function of TRPV5.9

Citation

Dessen P

TRPV5 (transient receptor potential cation channel subfamily V member 5)

Atlas Genet Cytogenet Oncol Haematol. 2009-08-01

Online version: http://atlasgeneticsoncology.org/gene/51022/gene-explorer/js/favicon/favicon-32x32.png