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Aliases for TRPV6 Gene

Aliases for TRPV6 Gene

  • Transient Receptor Potential Cation Channel, Subfamily V, Member 6 2 3
  • Epithelial Calcium Channel 2 2 3 4
  • Calcium Transport Protein 1 3 4
  • ECAC2 3 4
  • CAT1 3 4
  • Epithelial Apical Membrane Calcium Transporter/Channel CaT1 3
  • Alu-Binding Protein With Zinc Finger Domain 3
  • Calcium Transporter-Like Protein 3
  • HSA277909 3
  • CaT-Like 4
  • ABP/ZF 3
  • LP6728 3
  • CaT-L 4
  • TrpV6 4
  • CATL 3
  • ZFAB 3

External Ids for TRPV6 Gene

Previous HGNC Symbols for TRPV6 Gene

  • ECAC2

Previous GeneCards Identifiers for TRPV6 Gene

  • GC07U990280
  • GC07M140894
  • GC07M141963
  • GC07M142039
  • GC07M142085
  • GC07M142279
  • GC07M142568
  • GC07M136907

Summaries for TRPV6 Gene

Entrez Gene Summary for TRPV6 Gene

  • This gene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assembly and regulation. Translation initiation for this protein occurs at a non-AUG start codon that is decoded as methionine. This gene is situated next to a closely related gene for transient receptor potential cation channel subfamily V member 5 (TRPV5). This locus has experienced positive selection in non-African populations, resulting in several non-synonymous codon differences among individuals of different genetic backgrounds. [provided by RefSeq, Feb 2015]

GeneCards Summary for TRPV6 Gene

TRPV6 (Transient Receptor Potential Cation Channel, Subfamily V, Member 6) is a Protein Coding gene. Diseases associated with TRPV6 include corneal staphyloma 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 TRPV6 Gene

  • Calcium selective cation channel probably involved in Ca(2+) uptake in various tissues, including Ca(2+) reabsorption in intestine. The channel is activated by low internal calcium level, probably including intracellular calcium store depletion, and the current exhibits an inward rectification. Inactivation includes both, a rapid Ca(2+)-dependent and a slower Ca(2+)-calmodulin-dependent mechanism, the latter may be regulated by phosphorylation. In vitro, is slowly inhibited by Mg(2+) in a voltage-independent manner. Heteromeric assembly with TRPV5 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating (By similarity).

Tocris Summary for TRPV6 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 TRPV6 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRPV6 Gene

Genomics for TRPV6 Gene

Regulatory Elements for TRPV6 Gene

Genomic Location for TRPV6 Gene

Chromosome:
7
Start:
142,871,203 bp from pter
End:
142,885,762 bp from pter
Size:
14,560 bases
Orientation:
Minus strand

Genomic View for TRPV6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TRPV6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRPV6 Gene

Proteins for TRPV6 Gene

  • Protein details for TRPV6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1D0-TRPV6_HUMAN
    Recommended name:
    Transient receptor potential cation channel subfamily V member 6
    Protein Accession:
    Q9H1D0
    Secondary Accessions:
    • A4D2I8
    • Q8TDL3
    • Q8WXR8
    • Q96LC5
    • Q9H1D1
    • Q9H296

    Protein attributes for TRPV6 Gene

    Size:
    765 amino acids
    Molecular mass:
    87286 Da
    Quaternary structure:
    • Homotetramer and probably heterotetramer with TRPV5. Interacts with TRPV5. 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 BSPRY (By similarity). Interacts with TCAF1 and TCAF2 isoform 2 (PubMed:25559186). Interacts with calmodulin.
    SequenceCaution:
    • Sequence=AAK50426.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical ACG threonine codon.; Evidence={ECO:0000305 PubMed:23612980}; Sequence=AAL40230.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical ACG threonine codon.; Evidence={ECO:0000305 PubMed:23612980}; Sequence=AAM00356.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical ACG threonine codon.; Evidence={ECO:0000305 PubMed:23612980}; Sequence=AAO38052.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical ACG threonine codon.; Evidence={ECO:0000305 PubMed:23612980}; Sequence=BAF84396.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical ACG threonine codon.; Evidence={ECO:0000305 PubMed:23612980}; Sequence=CAC20416.2; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical ACG threonine codon.; Evidence={ECO:0000305 PubMed:23612980}; Sequence=CAC20417.2; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical ACG threonine codon.; Evidence={ECO:0000305 PubMed:23612980}; Sequence=CAD32311.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical ACG threonine codon.; Evidence={ECO:0000305 PubMed:23612980};

    Alternative splice isoforms for TRPV6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRPV6 Gene

Proteomics data for TRPV6 Gene at MOPED

Post-translational modifications for TRPV6 Gene

  • Glycosylated.
  • Phosphorylation at Tyr-201 by SRC leads to an increased calcium influx through the channel. Probably dephosphorylated at this site by PTPN1 (By similarity). Phosphorylation by PRKCA at the calmodulin binding site delays channel inactivation.
  • Glycosylation at Asn 398
  • Modification sites at PhosphoSitePlus

Other Protein References for TRPV6 Gene

Antibody Products

No data available for DME Specific Peptides for TRPV6 Gene

Domains & Families for TRPV6 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H1D0

UniProtKB/Swiss-Prot:

TRPV6_HUMAN :
  • Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV6 sub-subfamily.
  • Contains 6 ANK repeats.
Family:
  • Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV6 sub-subfamily.
Similarity:
  • Contains 6 ANK repeats.
genes like me logo Genes that share domains with TRPV6: view

Function for TRPV6 Gene

Molecular function for TRPV6 Gene

UniProtKB/Swiss-Prot Function:
Calcium selective cation channel probably involved in Ca(2+) uptake in various tissues, including Ca(2+) reabsorption in intestine. The channel is activated by low internal calcium level, probably including intracellular calcium store depletion, and the current exhibits an inward rectification. Inactivation includes both, a rapid Ca(2+)-dependent and a slower Ca(2+)-calmodulin-dependent mechanism, the latter may be regulated by phosphorylation. In vitro, is slowly inhibited by Mg(2+) in a voltage-independent manner. Heteromeric assembly with TRPV5 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating (By similarity).

Gene Ontology (GO) - Molecular Function for TRPV6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005262 calcium channel activity IDA 15184369
GO:0005515 protein binding IPI 15894168
GO:0005516 calmodulin binding IDA 11278579
genes like me logo Genes that share ontologies with TRPV6: view
genes like me logo Genes that share phenotypes with TRPV6: view

Animal Models for TRPV6 Gene

MGI Knock Outs for TRPV6:

Animal Model Products

miRNA for TRPV6 Gene

miRTarBase miRNAs that target TRPV6

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TRPV6

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TRPV6 Gene

Localization for TRPV6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRPV6 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TRPV6 Gene COMPARTMENTS Subcellular localization image for TRPV6 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TRPV6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 11278579
GO:0016020 membrane --
GO:0016021 integral component of membrane --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with TRPV6: view

Pathways & Interactions for TRPV6 Gene

genes like me logo Genes that share pathways with TRPV6: view

Pathways by source for TRPV6 Gene

SIGNOR curated interactions for TRPV6 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for TRPV6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport --
GO:0006816 calcium ion transport NAS 11278579
GO:0017158 regulation of calcium ion-dependent exocytosis NAS 11278579
GO:0034220 ion transmembrane transport TAS --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with TRPV6: view

Drugs & Compounds for TRPV6 Gene

(10) Drugs for TRPV6 Gene - From: DGIdb, IUPHAR, NovoSeek, Tocris, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcitriol Approved Nutra TNF-α and IL-1β production inhibitor, Vitamin D receptor (VDR) agonist 158
2-APB Pharma Channel blocker IP3 receptor antagonist. Also TRP channel modulator 0
Cd<sup>2+</sup> Pharma Channel blocker 0
La<sup>3+</sup> Pharma Channel blocker 0
Mg<sup>2+</sup> Pharma Antagonist 0

(8) Additional Compounds for TRPV6 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
inositol 1,4,5 trisphosphate
genes like me logo Genes that share compounds with TRPV6: view

Transcripts for TRPV6 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TRPV6

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TRPV6 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1: - -
SP2:
SP3:

Relevant External Links for TRPV6 Gene

GeneLoc Exon Structure for
TRPV6
ECgene alternative splicing isoforms for
TRPV6

Expression for TRPV6 Gene

mRNA expression in normal human tissues for TRPV6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TRPV6 Gene

This gene is overexpressed in Pancreas (x19.0) and Prostate (x8.5).

Protein differential expression in normal tissues from HIPED for TRPV6 Gene

This gene is overexpressed in Placenta (45.1), Heart (12.2), and Urine (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TRPV6 Gene



SOURCE GeneReport for Unigene cluster for TRPV6 Gene Hs.302740

mRNA Expression by UniProt/SwissProt for TRPV6 Gene

Q9H1D0-TRPV6_HUMAN
Tissue specificity: Expressed at high levels in the gastrointestinal tract, including esophagus, stomach, duodenum, jejunum, ileum and colon, and in pancreas, placenta, prostate and salivary gland. Expressed at moderate levels in liver, kidney and testis. Expressed in trophoblasts of placenta villus trees (at protein level)(PubMed:23612980). Expressed in locally advanced prostate cancer, metastatic and androgen-insensitive prostatic lesions but not detected in healthy prostate tissue and benign prostatic hyperplasia.
genes like me logo Genes that share expression patterns with TRPV6: view

Protein tissue co-expression partners for TRPV6 Gene

Primer Products

In Situ Assay Products

Orthologs for TRPV6 Gene

This gene was present in the common ancestor of animals.

Orthologs for TRPV6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TRPV6 35
  • 86.08 (n)
  • 83.77 (a)
TRPV6 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TRPV6 35
  • 88.44 (n)
  • 91.16 (a)
TRPV6 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Trpv6 35
  • 86.46 (n)
  • 90.33 (a)
Trpv6 16
Trpv6 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TRPV6 35
  • 99.45 (n)
  • 99.45 (a)
TRPV6 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Trpv6 35
  • 86.42 (n)
  • 90.06 (a)
oppossum
(Monodelphis domestica)
Mammalia TRPV6 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 58 (a)
OneToMany
-- 36
  • 62 (a)
OneToMany
chicken
(Gallus gallus)
Aves TRPV6 35
  • 69.33 (n)
  • 71.75 (a)
-- 36
  • 70 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 69 (a)
ManyToMany
-- 36
  • 69 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia trpv5 35
  • 64.06 (n)
  • 60.56 (a)
African clawed frog
(Xenopus laevis)
Amphibia XCAT1 35
zebrafish
(Danio rerio)
Actinopterygii trpv6 35
  • 58.18 (n)
  • 51.55 (a)
trpv6 36
  • 47 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7984 35
fruit fly
(Drosophila melanogaster)
Insecta iav 36
  • 14 (a)
ManyToMany
nan 36
  • 21 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ocr-4 37
  • 27 (a)
osm-9 37
  • 25 (a)
ocr-1 36
  • 19 (a)
ManyToMany
ocr-2 36
  • 18 (a)
ManyToMany
ocr-3 36
  • 18 (a)
ManyToMany
ocr-4 36
  • 22 (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 TRPV6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for TRPV6 Gene

ENSEMBL:
Gene Tree for TRPV6 (if available)
TreeFam:
Gene Tree for TRPV6 (if available)

Paralogs for TRPV6 Gene

Paralogs for TRPV6 Gene

(4) SIMAP similar genes for TRPV6 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with TRPV6: view

Variants for TRPV6 Gene

Sequence variations from dbSNP and Humsavar for TRPV6 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs4726596 -- 142,879,071(+) AGATA(A/C/T)TACTT intron-variant
rs4987673 -- 142,873,254(+) GAAGA(-/A/T)TGCCT intron-variant
rs4987685 -- 142,871,610(-) CCCAG(-/G)CCCCA utr-variant-3-prime
rs200938470 -- 142,871,610(+) TGGGG(-/C)CTGGG utr-variant-3-prime
rs267601350 untested 142,872,404(+) TACTC(C/G/T)CGTCC synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for TRPV6 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
dgv7505n71 CNV Gain 21882294
nsv889280 CNV Gain 21882294
dgv7506n71 CNV Gain 21882294
nsv889285 CNV Gain 21882294

Variation tolerance for TRPV6 Gene

Residual Variation Intolerance Score: 23.76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.99; 84.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TRPV6 Gene

HapMap Linkage Disequilibrium report
TRPV6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRPV6 Gene

Disorders for TRPV6 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TRPV6 Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
corneal staphyloma
aromatase deficiency
  • aromatase excess syndrome
pendred syndrome
  • autosomal recessive sensorineural hearing impairment and goiter
prostate cancer
  • prostate cancer, hereditary, 5
- elite association
Search TRPV6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TRPV6

Genetic Association Database (GAD)
TRPV6
Human Genome Epidemiology (HuGE) Navigator
TRPV6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TRPV6
genes like me logo Genes that share disorders with TRPV6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TRPV6 Gene

Publications for TRPV6 Gene

  1. TRPV6 exhibits unusual patterns of polymorphism and divergence in worldwide populations. (PMID: 16717058) Akey J.M. … Shriver M.D. (Hum. Mol. Genet. 2006) 2 23 67
  2. Structural conservation of the genes encoding CaT1, CaT2, and related cation channels. (PMID: 11549322) Peng J.-B. … Hediger M.A. (Genomics 2001) 2 23 67
  3. Differential role of cathepsins B and L in autophagy-associated cell death induced by arsenic trioxide in U87 human glioblastoma cells. (PMID: 20302512) Pucer A. … Lah T.T. (Biol. Chem. 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. Mechanisms for hypercalciuria in pseudohypoaldosteronism type II-causing WNK4 knock-in mice. (PMID: 20181799) Yang S.S. … Lin S.H. (Endocrinology 2010) 23 67

Products for TRPV6 Gene

Sources for TRPV6 Gene

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