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Aliases for TRPV5 Gene

Aliases for TRPV5 Gene

  • Transient Receptor Potential Cation Channel, Subfamily V, Member 5 2 3
  • Epithelial Calcium Channel 1 2 3 4
  • ECAC1 3 4 6
  • CAT2 3 4 6
  • Calcium Transport Protein 2 3 4
  • Osm-9-Like TRP Channel 3 3 4
  • OTRPC3 3 4
  • Transient Receptor Potential Cation Channel Subfamily V Member 5 3
  • Calcium Transporter 2 3
  • TrpV5 4
  • ECaC 4

External Ids for TRPV5 Gene

Previous Symbols for TRPV5 Gene

  • ECAC1

Summaries for TRPV5 Gene

Entrez Gene Summary for TRPV5 Gene

  • This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. [provided by RefSeq, Jul 2008]

GeneCards Summary for TRPV5 Gene

TRPV5 (Transient Receptor Potential Cation Channel, Subfamily V, Member 5) is a Protein Coding gene. Diseases associated with TRPV5 include aromatase deficiency and hypervitaminosis d. Among its related pathways are CREB Pathway and Ion channel transport. GO annotations related to this gene include calmodulin binding and calcium channel activity. An important paralog of this gene is TRPV2.

UniProtKB/Swiss-Prot for TRPV5 Gene

  • Constitutively active calcium selective cation channel thought to be involved in Ca(2+) reabsorption in kidney and intestine. The channel is activated by low internal calcium level and the current exhibits an inward rectification. A Ca(2+)-dependent feedback regulation includes fast channel inactivation and slow current decay. Heteromeric assembly with TRPV6 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating (By similarity).

Tocris Summary for TRPV5 Gene

  • Vanilloids are a group of compounds, structurally related to capsaicin, thought to exert their actions via vanilloid receptors. The vanilloid receptor family (TRPV) is a subgroup of the transient receptor potential (TRP) superfamily of ion channels, and six members (TRPV1-6) have so far been identified. The six vanilloid receptor members have been divided into four groups on the basis of structure and function: TRPV1/2, TRPV3, TRPV4 and TRPV5/6. TRPV1-4 are thermosensitive, non-selective cation channels that exist as tetrameric complexes. They are activated by a range of stimuli including heat, protons, lipids and changes in osmolarity or pressure. TRPV5-6 are calcium selective channels that are involved in the absorption and reabsorption of calcium across intestinal and renal epithelia. It has been proposed that cannabinoids are endogenous ligands for vanilloid receptors. Furthermore, adenosine has been shown to be an endogenous TRPV1 ligand and TRPV4 is activated by anandamide and arachidonic acid.

Gene Wiki entry for TRPV5 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRPV5 Gene

Genomics for TRPV5 Gene

Genomic Location for TRPV5 Gene

Start:
142,908,101 bp from pter
End:
142,933,808 bp from pter
Size:
25,708 bases
Orientation:
Minus strand

Genomic View for TRPV5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TRPV5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRPV5 Gene

Regulatory Elements for TRPV5 Gene

Proteins for TRPV5 Gene

  • Protein details for TRPV5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQA5-TRPV5_HUMAN
    Recommended name:
    Transient receptor potential cation channel subfamily V member 5
    Protein Accession:
    Q9NQA5
    Secondary Accessions:
    • A4D2H7
    • E9PBZ6
    • Q8N4C1
    • Q8NDW5
    • Q8NDX7
    • Q8NDX8
    • Q96PM6

    Protein attributes for TRPV5 Gene

    Size:
    729 amino acids
    Molecular mass:
    82551 Da
    Quaternary structure:
    • Homotetramer and probably heterotetramer with TRPV6. Interacts with TRPV6. Interacts with S100A10 and probably with the ANAX2-S100A10 heterotetramer. The interaction with S100A10 is required for the trafficking to the plasma membrane. Interacts with calmodulin. Interacts with BSPRY, which results in its inactivation (By similarity).

    Alternative splice isoforms for TRPV5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRPV5 Gene

Proteomics data for TRPV5 Gene at MOPED

Post-translational modifications for TRPV5 Gene

Other Protein References for TRPV5 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for TRPV5 Gene

Domains for TRPV5 Gene

Gene Families for TRPV5 Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing
  • TRP :Voltage-gated ion channels / Transient receptor potential cation channels
IUPHAR :

UniProtKB/Swiss-Prot:

TRPV5_HUMAN
Family:
  • Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV5 sub-subfamily.:
    • Q9NQA5
Similarity:
  • Contains 5 ANK repeats.:
    • Q9NQA5
genes like me logo Genes that share domains with TRPV5: view

Function for TRPV5 Gene

Molecular function for TRPV5 Gene

UniProtKB/Swiss-Prot EnzymeRegulation: Activated by WNK3.
UniProtKB/Swiss-Prot Function: Constitutively active calcium selective cation channel thought to be involved in Ca(2+) reabsorption in kidney and intestine. The channel is activated by low internal calcium level and the current exhibits an inward rectification. A Ca(2+)-dependent feedback regulation includes fast channel inactivation and slow current decay. Heteromeric assembly with TRPV6 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating (By similarity).

Gene Ontology (GO) - Molecular Function for TRPV5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005262 calcium channel activity ISS --
GO:0005515 protein binding IPI 16763551
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with TRPV5: view
genes like me logo Genes that share phenotypes with TRPV5: view

Animal Models for TRPV5 Gene

MGI Knock Outs for TRPV5:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for TRPV5 Gene

Localization for TRPV5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRPV5 Gene

Apical cell membrane; Multi-pass membrane protein. Note=Colocalized with S100A10 and ANAX2 along the apical domain of kidney distal tubular cells (By similarity). The expression of the glycosylated form in the cell membrane is increased in the presence of WNK3. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TRPV5 Gene COMPARTMENTS Subcellular localization image for TRPV5 gene
Compartment Confidence
plasma membrane 5
peroxisome 2
extracellular 1

Gene Ontology (GO) - Cellular Components for TRPV5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 15489237
GO:0016021 integral component of membrane --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with TRPV5: view

Pathways for TRPV5 Gene

genes like me logo Genes that share pathways with TRPV5: view

Pathways by source for TRPV5 Gene

1 Qiagen pathway for TRPV5 Gene
1 BioSystems pathway for TRPV5 Gene

Gene Ontology (GO) - Biological Process for TRPV5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport --
GO:0006816 calcium ion transport TAS 15665527
GO:0034220 ion transmembrane transport TAS --
GO:0051262 protein tetramerization ISS --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with TRPV5: view

Compounds for TRPV5 Gene

(5) Tocris Compounds for TRPV5 Gene

Compound Action Cas Number
5-Iodoresiniferatoxin Potent, silent TRPV1 antagonist [535974-91-5]
AMG 9810 Potent and selective, competitive antagonist of TRPV1 [545395-94-6]
Anandamide Endogenous CB receptor agonist [94421-68-8]
Capsazepine Vanilloid receptor antagonist. Also activator of ENaCdelta [138977-28-3]
HC 067047 Potent and selective TRPV4 antagonist [883031-03-6]

(1) HMDB Compounds for TRPV5 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(4) IUPHAR Ligand for TRPV5 Gene

Ligand Type Action Affinity Pubmed IDs
ruthenium red Channel blocker None
econazole Channel blocker None
Mg2+ Antagonist Antagonist
miconazole Channel blocker None

(7) Novoseek inferred chemical compound relationships for TRPV5 Gene

Compound -log(P) Hits PubMed IDs
1,25 dihydroxy vitamin d3 61.8 4
ruthenium 59.3 5
calcium 57.6 57
bapta 54.9 3
vitamin d 50.9 4
genes like me logo Genes that share compounds with TRPV5: view

Transcripts for TRPV5 Gene

mRNA/cDNA for TRPV5 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TRPV5 Gene

Transient receptor potential cation channel, subfamily V, member 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TRPV5 Gene

No ASD Table

Relevant External Links for TRPV5 Gene

GeneLoc Exon Structure for
TRPV5
ECgene alternative splicing isoforms for
TRPV5

Expression for TRPV5 Gene

mRNA expression in normal human tissues for TRPV5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TRPV5 Gene

This gene is overexpressed in Kidney - Cortex (19.6) and Brain - Spinal cord (cervical c-1) (8.3).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for TRPV5 Gene

SOURCE GeneReport for Unigene cluster for TRPV5 Gene Hs.283369

mRNA Expression by UniProt/SwissProt for TRPV5 Gene

Q9NQA5-TRPV5_HUMAN
Tissue specificity: Expressed at high levels in kidney, small intestine and pancreas, and at lower levels in testis, prostate, placenta, brain, colon and rectum.
genes like me logo Genes that share expressions with TRPV5: view

Orthologs for TRPV5 Gene

This gene was present in the common ancestor of animals.

Orthologs for TRPV5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TRPV5 36
  • 99.27 (n)
  • 99.45 (a)
TRPV5 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TRPV5 36
  • 83.4 (n)
  • 80.14 (a)
TRPV5 37
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TRPV5 36
  • 86.88 (n)
  • 86.69 (a)
TRPV5 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Trpv5 36
  • 81.71 (n)
  • 81.67 (a)
Trpv5 16
Trpv5 37
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TRPV5 37
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TRPV5 37
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Trpv5 36
  • 80.71 (n)
  • 80.75 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 69 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 68 (a)
ManyToMany
-- 37
  • 65 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii trpv6 37
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta iav 37
  • 14 (a)
ManyToMany
nan 37
  • 21 (a)
ManyToMany
nan 38
  • 27 (a)
worm
(Caenorhabditis elegans)
Secernentea ocr-1 37
  • 19 (a)
ManyToMany
ocr-2 37
  • 18 (a)
ManyToMany
ocr-3 37
  • 19 (a)
ManyToMany
ocr-4 37
  • 23 (a)
ManyToMany
osm-9 37
  • 16 (a)
ManyToMany
osm-9 38
  • 25 (a)
ocr-4 38
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 25 (a)
ManyToMany
-- 37
  • 22 (a)
ManyToMany
Species with no ortholog for TRPV5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for TRPV5 Gene

ENSEMBL:
Gene Tree for TRPV5 (if available)
TreeFam:
Gene Tree for TRPV5 (if available)

Paralogs for TRPV5 Gene

Paralogs for TRPV5 Gene

Selected SIMAP similar genes for TRPV5 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TRPV5: view

Variants for TRPV5 Gene

Sequence variations from dbSNP and Humsavar for TRPV5 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs756260 -- 142,922,786(+) TCTGC(C/T)TAAAC intron-variant
rs756261 -- 142,923,072(+) GGATC(A/T)TAGGG intron-variant
rs756262 -- 142,922,704(+) AACCC(A/G)AGCTG intron-variant
rs1404045 -- 142,920,467(-) GAGGC(A/G)CTTGA intron-variant
rs1568759 -- 142,926,729(-) TAAGC(G/T)ATTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TRPV5 Gene

Variant ID Type Subtype PubMed ID
nsv428187 CNV Loss 18775914
dgv2145e1 CNV Complex 17122850
nsv889274 CNV Loss 21882294
nsv831168 CNV Gain 17160897
nsv526015 CNV Gain 19592680
nsv520735 CNV Loss 19592680
nsv889285 CNV Gain 21882294
nsv889286 CNV Loss 21882294

Relevant External Links for TRPV5 Gene

HapMap Linkage Disequilibrium report
TRPV5
Human Gene Mutation Database (HGMD)
TRPV5

Disorders for TRPV5 Gene

(1) University of Copenhagen DISEASES for TRPV5 Gene

Relevant External Links for TRPV5

Genetic Association Database (GAD)
TRPV5
Human Genome Epidemiology (HuGE) Navigator
TRPV5
genes like me logo Genes that share disorders with TRPV5: view

No data available for UniProtKB/Swiss-Prot for TRPV5 Gene

Publications for TRPV5 Gene

  1. Molecular cloning, tissue distribution, and chromosomal mapping of the human epithelial calcium channel (ECAC1). (PMID: 10945469) Mueller D. … Bindels R.J.M. (Genomics 2000) 2 3 4 23
  2. Structural conservation of the genes encoding CaT1, CaT2, and related cation channels. (PMID: 11549322) Peng J.-B. … Hediger M.A. (Genomics 2001) 3 4 23
  3. Gene structure and chromosomal mapping of human epithelial calcium channel. (PMID: 10944439) Muller D. … Bindels R.J. (Biochem. Biophys. Res. Commun. 2000) 2 3 23
  4. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4
  5. International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels. (PMID: 16382100) Clapham D.E. … Schultz G. (Pharmacol. Rev. 2005) 2 3

Products for TRPV5 Gene

Sources for TRPV5 Gene

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