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 RefS... See more...

Aliases for TRPV5 Gene

Aliases for TRPV5 Gene

  • Transient Receptor Potential Cation Channel Subfamily V Member 5 2 3 4 5
  • Epithelial Calcium Channel 1 2 3 4
  • Calcium Transport Protein 2 3 4
  • Osm-9-Like TRP Channel 3 3 4
  • OTRPC3 3 4
  • ECAC1 3 4
  • Transient Receptor Potential Cation Channel, Subfamily V, Member 5 2
  • Calcium Transporter 2 3
  • ECaC1 4
  • TrpV5 4
  • CAT2 3
  • CaT2 4
  • ECaC 4

External Ids for TRPV5 Gene

Previous HGNC Symbols for TRPV5 Gene

  • ECAC1

Previous GeneCards Identifiers for TRPV5 Gene

  • GC07M140931
  • GC07M141999
  • GC07M142076
  • GC07M142122
  • GC07M142315
  • GC07M142606
  • GC07M136943

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 Hypervitaminosis D and Pseudohypoaldosteronism. Among its related pathways are Ion channel transport and Parathyroid hormone synthesis, secretion and action. Gene Ontology (GO) annotations related to this gene include calmodulin binding and calcium channel activity. An important paralog of this gene is TRPV6.

UniProtKB/Swiss-Prot Summary for TRPV5 Gene

  • Constitutively active calcium selective cation channel thought to be involved in Ca(2+) reabsorption in kidney and intestine (PubMed:11549322, PubMed:18768590). Required for normal Ca(2+) reabsorption in the kidney distal convoluted tubules (By similarity). The channel is activated by low internal calcium level and the current exhibits an inward rectification (PubMed:11549322, PubMed:18768590). A Ca(2+)-dependent feedback regulation includes fast channel inactivation and slow current decay (By similarity). 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 member of the transient receptor potential (TRP) superfamily of ion channels, and have six members (TRPV1-6).

Gene Wiki entry for TRPV5 Gene

Additional gene information for TRPV5 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRPV5 Gene

Genomics for TRPV5 Gene

GeneHancer (GH) Regulatory Elements for TRPV5 Gene

Promoters and enhancers for TRPV5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J142933 Promoter 0.3 EPDnew 500.7 0.0 -20 0.1 TRPV5 LOC105375542
GH07J142932 Enhancer 0.3 Ensembl 500.7 +0.6 645 1 PKNOX1 TRPV5 EPHB6 ENSG00000286569
GH07J143215 Enhancer 1 Ensembl ENCODE 10.4 -282.8 -282755 3.4 CTCF REST MYC RAD21 TRIM22 TEAD1 SMC3 RBM25 DEK TRIM25 GSTK1 TAS2R39 KEL LLCFC1 TRPV5 OR6V1 OR9P1P TAS2R40 piR-32785-014 lnc-TAS2R40-1
GH07J142908 Enhancer 0.8 Ensembl ENCODE 12.3 +23.7 23672 3.1 CTCF CTBP1 SMC3 ZNF316 FOS YY1 NR2F2 MCM5 ELF1 RAD21 CASP2 KEL TRPV5 LLCFC1 ENSG00000253882 EPHB6 TCAF2 RN7SL535P OR9P1P OR6V1
GH07J142838 Enhancer 1 Ensembl ENCODE 9.8 +95.4 95376 0.7 MYC CTBP1 U2AF2 NCOR1 ZNF316 NFIC MYNN ZKSCAN1 TRIM24 TRIM28 RF00017-6709 KEL TRBV30 TRPV5 LLCFC1 EPHB6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TRPV5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TRPV5

Top Transcription factor binding sites by QIAGEN in the TRPV5 gene promoter:
  • AML1a
  • E47
  • FOXJ2
  • FOXJ2 (long isoform)
  • HOXA5
  • NF-1
  • NF-kappaB1
  • Tal-1
  • Tal-1beta

Genomic Locations for TRPV5 Gene

Genomic Locations for TRPV5 Gene
chr7:142,908,101-142,933,746
(GRCh38/hg38)
Size:
25,646 bases
Orientation:
Minus strand
chr7:142,605,267-142,630,905
(GRCh37/hg19)
Size:
25,639 bases
Orientation:
Minus strand

Genomic View for TRPV5 Gene

Genes around TRPV5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRPV5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRPV5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 (By similarity). 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.

    Three dimensional structures from OCA and Proteopedia for TRPV5 Gene

    Alternative splice isoforms for TRPV5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRPV5 Gene

Post-translational modifications for TRPV5 Gene

Other Protein References for TRPV5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TRPV5 Gene

Domains & Families for TRPV5 Gene

Gene Families for TRPV5 Gene

Protein Domains for TRPV5 Gene

Suggested Antigen Peptide Sequences for TRPV5 Gene

GenScript: Design optimal peptide antigens:
  • Epithelial calcium channel (Q9H480_HUMAN)
  • Osm-9-like TRP channel 3 (TRPV5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NQA5

UniProtKB/Swiss-Prot:

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

Function for TRPV5 Gene

Molecular function for TRPV5 Gene

UniProtKB/Swiss-Prot Function:
Constitutively active calcium selective cation channel thought to be involved in Ca(2+) reabsorption in kidney and intestine (PubMed:11549322, PubMed:18768590). Required for normal Ca(2+) reabsorption in the kidney distal convoluted tubules (By similarity). The channel is activated by low internal calcium level and the current exhibits an inward rectification (PubMed:11549322, PubMed:18768590). A Ca(2+)-dependent feedback regulation includes fast channel inactivation and slow current decay (By similarity). Heteromeric assembly with TRPV6 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating (By similarity).
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by WNK3.

Phenotypes From GWAS Catalog for TRPV5 Gene

Gene Ontology (GO) - Molecular Function for TRPV5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IBA 21873635
GO:0005262 calcium channel activity TAS,ISS --
GO:0005515 protein binding IEA,IPI 16763551
GO:0005516 calmodulin binding IEA --
GO:0046872 metal ion 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:

Animal Model Products

  • Taconic Biosciences Mouse Models for TRPV5

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets 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 (PubMed:18768590). {ECO:0000250 UniProtKB:P69744, ECO:0000269 PubMed:18768590}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TRPV5 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
endosome 2
cytosol 2
mitochondrion 1
peroxisome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TRPV5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA,IDA 15489237
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TRPV5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TRPV5 Gene

Pathways & Interactions 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
  • Intracellular Calcium Signaling

SIGNOR curated interactions for TRPV5 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TRPV5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport TAS 15665527
GO:0034220 ion transmembrane transport IEA --
GO:0035809 regulation of urine volume ISS --
GO:0051262 protein tetramerization ISS --
genes like me logo Genes that share ontologies with TRPV5: view

Drugs & Compounds for TRPV5 Gene

(15) Drugs for TRPV5 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Econazole Approved Pharma Antagonist, Pore Blocker, Channel blocker, inhibitor 8
Miconazole Approved, Investigational, Vet_approved Pharma Antagonist, Pore Blocker, Channel blocker, inhibitor 4175
Calcium Approved Nutra 7884
Calcium Citrate Approved, Investigational Pharma Transporter, substrate 0
Calcium Phosphate Approved Pharma Transporter, substrate 0

(5) Additional Compounds for TRPV5 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(E)-Capsaicin
404-86-4

(5) Tocris Compounds for TRPV5 Gene

Compound Action Cas Number
(E)-Capsaicin Prototypic vanilloid receptor agonist 404-86-4
Capsazepine Vanilloid receptor antagonist; also activator of ENaCdelta 138977-28-3
Olvanil Potent vanilloid receptor agonist 58493-49-5
Resiniferatoxin Potent vanilloid receptor agonist 57444-62-9
STEARDA Endogenous lipid, active in vivo. Enhances effects of endovanilloids at TRPV1 receptors 105955-10-0

(1) ApexBio Compounds for TRPV5 Gene

Compound Action Cas Number
HC-030031 TRPA1 channel blocker,potent and selective 349085-38-7
genes like me logo Genes that share compounds with TRPV5: view

Drug Products

Transcripts for TRPV5 Gene

mRNA/cDNA for TRPV5 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for TRPV5 Gene

GeneLoc Exon Structure for
TRPV5

Expression for TRPV5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 (x19.6) and Brain - Spinal cord (cervical c-1) (x8.3).

Protein differential expression in normal tissues from HIPED for TRPV5 Gene

This gene is overexpressed in Heart (36.3) and Urine (32.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TRPV5 Gene



Protein tissue co-expression partners for TRPV5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TRPV5

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.

Evidence on tissue expression from TISSUES for TRPV5 Gene

  • Intestine(4.4)
  • Kidney(2.7)
genes like me logo Genes that share expression patterns with TRPV5: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TRPV5 Gene

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 31 30
  • 99.27 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TRPV5 31 30
  • 86.88 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TRPV5 31 30
  • 83.4 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Trpv5 17 31 30
  • 81.71 (n)
rat
(Rattus norvegicus)
Mammalia Trpv5 30
  • 80.71 (n)
oppossum
(Monodelphis domestica)
Mammalia TRPV5 31
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TRPV5 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 31
  • 69 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 68 (a)
ManyToMany
-- 31
  • 65 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii trpv6 31
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta nan 31 32
  • 21 (a)
ManyToMany
iav 31
  • 14 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ocr-4 31 32
  • 23 (a)
ManyToMany
ocr-1 31
  • 19 (a)
ManyToMany
ocr-3 31
  • 19 (a)
ManyToMany
ocr-2 31
  • 18 (a)
ManyToMany
osm-9 31 32
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 25 (a)
ManyToMany
-- 31
  • 22 (a)
ManyToMany
Species where no ortholog for TRPV5 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TRPV5: view image

Paralogs for TRPV5 Gene

Paralogs for TRPV5 Gene

(5) SIMAP similar genes for TRPV5 Gene using alignment to 3 proteins:

  • TRPV5_HUMAN
  • E9PBZ6_HUMAN
  • H7C2J6_HUMAN
genes like me logo Genes that share paralogs with TRPV5: view

Variants for TRPV5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TRPV5 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
714771 Benign: not provided 142,933,392(-) A/G MISSENSE_VARIANT
768211 Benign: not provided 142,925,619(-) A/G SYNONYMOUS_VARIANT
768212 Benign: not provided 142,928,154(-) C/T SYNONYMOUS_VARIANT
768213 Benign: not provided 142,928,787(-) A/G SYNONYMOUS_VARIANT
768214 Benign: not provided 142,929,454(-) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for TRPV5 Gene

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

Variant ID Type Subtype PubMed ID
esv2759569 CNV loss 17122850
nsv1030700 CNV gain 25217958
nsv428187 CNV loss 18775914
nsv520735 CNV loss 19592680
nsv526015 CNV gain 19592680
nsv831168 CNV gain 17160897
nsv970950 CNV duplication 23825009

Variation tolerance for TRPV5 Gene

Residual Variation Intolerance Score: 22.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.28; 70.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRPV5 Gene

Human Gene Mutation Database (HGMD)
TRPV5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRPV5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRPV5 Gene

Disorders for TRPV5 Gene

MalaCards: The human disease database

(9) MalaCards diseases for TRPV5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hypervitaminosis d
pseudohypoaldosteronism
aromatase deficiency
  • pseudohermaphroditism, female, due to placental aromatase deficiency
idiopathic hypercalciuria
skin atrophy
  • atrophic condition of skin
- elite association - COSMIC cancer census association via MalaCards
Search TRPV5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TRPV5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TRPV5: view

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

Publications for TRPV5 Gene

  1. Molecular cloning, tissue distribution, and chromosomal mapping of the human epithelial Ca2+ channel (ECAC1). (PMID: 10945469) Müller D … Bindels RJ (Genomics 2000) 2 3 4 23 54
  2. Structural conservation of the genes encoding CaT1, CaT2, and related cation channels. (PMID: 11549322) Peng JB … Hediger MA (Genomics 2001) 3 4 23 54
  3. Gene structure and chromosomal mapping of human epithelial calcium channel. (PMID: 10944439) Müller D … Bindels RJ (Biochemical and biophysical research communications 2000) 2 3 23 54
  4. Expression of transient receptor potential vanilloid channels TRPV5 and TRPV6 in retinal pigment epithelium. (PMID: 20405023) Kennedy BG … Mangini NJ (Molecular vision 2010) 3 23 54
  5. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges LM … MrOS Research Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 41 54

Products for TRPV5 Gene

Sources for TRPV5 Gene