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
194236902009Parathyroid hormone activates TRPV5 via PKA-dependent phosphorylation.45
162918082005The epithelial Ca2+ channel TRPV5 is essential for proper osteoclastic bone resorption.43
183050972008Protein kinase C inhibits caveolae-mediated endocytosis of TRPV5.40
215763562011Molecular mechanisms of calmodulin action on TRPV5 and modulation by parathyroid hormone.30
293232792018Structural basis of TRPV5 channel inhibition by econazole revealed by cryo-EM.30
170188462007WNK4 enhances TRPV5-mediated calcium transport: potential role in hypercalciuria of familial hyperkalemic hypertension caused by gene mutation of WNK4.27
191575412009Activation of the Ca2+-sensing receptor stimulates the activity of the epithelial Ca2+ channel TRPV5.24
194532612009High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.20
172336152007Concerted action of associated proteins in the regulation of TRPV5 and TRPV6.19
205474822010TRPV-5 mediates a receptor activator of NF-kappaB (RANK) ligand-induced increase in cytosolic Ca2+ in human osteoclasts and down-regulates bone resorption.18

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/trpv5-(transient-receptor-potential-cation-channel-subfamily-v-member-5)