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

2009-08-01  

Identity

HGNC
TRPV5
LOCATION
7q34
LOCUSID
56302
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/meetings/js/lib/js/lib/zoomerang.js