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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
  • Calcium Transport Protein 2 3 4
  • Osm-9-Like TRP Channel 3 3 4
  • OTRPC3 3 4
  • ECAC1 3 4
  • CAT2 3 4
  • Calcium Transporter 2 3
  • TrpV5 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 aromatase deficiency. Among its related pathways are CREB Pathway and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include calmodulin binding and calcium channel activity. An important paralog of this gene is ENSG00000262304.

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 member of the transient receptor potential (TRP) superfamily of ion channels, and have six members (TRPV1-6).

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

Regulatory Elements for TRPV5 Gene

Genomic Location for TRPV5 Gene

Chromosome:
7
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

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:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for TRPV5 Gene

Domains & Families for TRPV5 Gene

Suggested Antigen Peptide Sequences for TRPV5 Gene

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.
  • Contains 5 ANK repeats.
Family:
  • Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV5 sub-subfamily.
Similarity:
  • Contains 5 ANK repeats.
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:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TRPV5

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TRPV5 Gene COMPARTMENTS Subcellular localization image for TRPV5 gene
Compartment Confidence
plasma membrane 5
cytosol 1
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:0016020 membrane --
GO:0016021 integral component of membrane --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with TRPV5: view

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
1 BioSystems pathway for TRPV5 Gene

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 --
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

Drugs & Compounds for TRPV5 Gene

(9) Drugs for TRPV5 Gene - From: IUPHAR, DGIdb, NovoSeek, Tocris, ApexBio, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Econazole Approved Pharma Channel blocker, inhibitor 5
Miconazole Approved, Investigational Pharma Channel blocker, inhibitor 2912
ruthenium red Pharma Channel blocker Non-selective Ca2+ channel blocker (N- and P-type) 0
Mg<sup>2+</sup> Pharma Antagonist 0
Calcium Nutra 0

(7) Additional Compounds for TRPV5 Gene - From: Tocris and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
AM 404 (in Tocrisolve 100)
198022-70-7
Anandamide (in Tocrisolve 100)
94421-68-8
STEARDA
105955-10-0
1,25 DIHYDROXY VITAMIN D3
aspartate
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TRPV5

Flow Cytometry 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
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 (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



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 expression patterns with TRPV5: view

Protein tissue co-expression partners for TRPV5 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for TRPV5 Gene

This gene was present in the common ancestor of animals.

Orthologs for TRPV5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TRPV5 35
  • 83.4 (n)
  • 80.14 (a)
TRPV5 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TRPV5 35
  • 86.88 (n)
  • 86.69 (a)
TRPV5 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Trpv5 35
  • 81.71 (n)
  • 81.67 (a)
Trpv5 16
Trpv5 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TRPV5 35
  • 99.27 (n)
  • 99.45 (a)
TRPV5 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Trpv5 35
  • 80.71 (n)
  • 80.75 (a)
oppossum
(Monodelphis domestica)
Mammalia TRPV5 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TRPV5 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 69 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 68 (a)
ManyToMany
-- 36
  • 65 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii trpv6 36
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta nan 37
  • 27 (a)
iav 36
  • 14 (a)
ManyToMany
nan 36
  • 21 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ocr-4 37
  • 30 (a)
osm-9 37
  • 25 (a)
ocr-1 36
  • 19 (a)
ManyToMany
ocr-2 36
  • 18 (a)
ManyToMany
ocr-3 36
  • 19 (a)
ManyToMany
ocr-4 36
  • 23 (a)
ManyToMany
osm-9 36
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 25 (a)
ManyToMany
-- 36
  • 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

(5) 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
rs4726597 -- 142,913,313(+) TGAGC(A/G)TAAGG intron-variant
rs139179788 untested, untested 142,929,036(+) CCTGG(A/G)CCCTG reference, missense
rs202171798 Uncertain significance 142,925,616(+) CAGCA(C/G/T)GTGGT synonymous-codon, reference
rs267601353 untested 142,908,735(+) ATCCT(C/G/T)CTTGT missense, reference
rs267601354 untested 142,912,658(+) AGTGA(A/G)AAAAA reference, missense

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

Variation tolerance for TRPV5 Gene

Residual Variation Intolerance Score: 22.67% 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)

Relevant External Links for TRPV5 Gene

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

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

Disorders for TRPV5 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hypervitaminosis d
aromatase deficiency
  • aromatase excess syndrome
idiopathic hypercalciuria
- elite association
Search TRPV5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TRPV5

Genetic Association Database (GAD)
TRPV5
Human Genome Epidemiology (HuGE) Navigator
TRPV5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TRPV5
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. Gene structure and chromosomal mapping of human epithelial calcium channel. (PMID: 10944439) Muller D. … Bindels R.J. (Biochem. Biophys. Res. Commun. 2000) 2 23 67
  2. 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 23 67
  3. Mechanisms for hypercalciuria in pseudohypoaldosteronism type II-causing WNK4 knock-in mice. (PMID: 20181799) Yang S.S. … Lin S.H. (Endocrinology 2010) 23 67
  4. Expression of transient receptor potential vanilloid channels TRPV5 and TRPV6 in retinal pigment epithelium. (PMID: 20405023) Kennedy B.G. … Mangini N.J. (Mol. Vis. 2010) 23 67
  5. Endogenous expression of TRPV5 and TRPV6 calcium channels in human leukemia K562 cells. (PMID: 19295174) Semenova S.B. … Negulyaev Y.A. (Am. J. Physiol., Cell Physiol. 2009) 23 67

Products for TRPV5 Gene

Sources for TRPV5 Gene

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