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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TRPV5 Gene

protein-coding GIFtS: 65
GCID: GC07M142606

Transient Receptor Potential Cation Channel, Subfamily V,...

(Previous name: epithelial calcium channel 1)
(Previous symbol: ECAC1)

11 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Transient Receptor Potential Cation Channel, Subfamily V, Member 5¹ ²		CAT2² ⁵
ECAC1¹ ² ³ ⁵		Calcium Transporter 2²
Epithelial Calcium Channel 1¹ ² ³		Transient Receptor Potential Cation Channel Subfamily V Member 5²
Calcium Transport Protein 2² ³		CaT2³
Osm-9-Like TRP Channel 3² ³		ECaC1³
ECaC² ³		TrpV5³
OTRPC3² ³

External Ids:	HGNC: 3145¹	Entrez Gene: 56302²	Ensembl: ENSG00000127412⁷	OMIM: 606679⁵	UniProtKB: Q9NQA5³

Export aliases for TRPV5 gene to outside databases

Previous GC identifers: GC07M140931 GC07M141999 GC07M142076 GC07M142122 GC07M142315 GC07M136943

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are CREB Pathway. GO annotations related to this gene include calcium channel activity and calmodulin binding. An important paralog of this gene is TRPV6.

UniProtKB/Swiss-Prot: TRPV5_HUMAN, Q9NQA5

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)

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.2 NT_007914.15 NT_079596.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TRPV5 gene promoter:
NF-1 Tal-1 AML1a Tal-1beta E47 HOXA5 FOXJ2 (long isoform) FOXJ2 NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TRPV5 promoter sequence

Search SABiosciences Chromatin IP Primers for TRPV5

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TRPV5

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q35 Ensembl cytogenetic band: 7q34 HGNC cytogenetic band: 7q34

TRPV5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TRPV5 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M142606: view genomic region (about GC identifiers)

Start:	142,605,267 bp from pter	End:	142,630,905 bp from pter
Size:	25,639 bases	Orientation:	minus strand

2 alternative locations:

Chr7-,CRA_TCAG 142,007,517-142,032,689

Chr7-,NW_003571040 1,111,308-1,136,480

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TRPV5_HUMAN, Q9NQA5 (See protein sequence)

Recommended Name: Transient receptor potential cation channel subfamily V member 5

Size: 729 amino acids; 82551 Da

Subunit: 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)

Subcellular location: 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

Secondary accessions: A4D2H7 Q8NDW5 Q8NDX7 Q8NDX8 Q96PM6

Explore the universe of human proteins at neXtProt for TRPV5: NX_Q9NQA5

Explore proteomics data for TRPV5 at MOPED

Post-translational modifications:

UniProtKB: Glycosylated

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q9NQA5

TRPV5 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_062815.2

ENSEMBL proteins:

ENSP00000265310 ENSP00000406361 ENSP00000406572

Human Recombinant Protein Products for TRPV5:

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	Cloud-Clone Corp. Proteins for TRPV5

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005887	integral to plasma membrane	IDA	15489237
GO:0016021	integral to membrane	--	--
GO:0016324	apical plasma membrane	IEA	--

TRPV5 for ontologies About GeneDecksing

TRPV5 Antibody Products:

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	Cloud-Clone Corp. ELISAs for TRPV5 Cloud-Clone Corp. CLIAs for TRPV5

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

TRP: Voltage-gated ion channels / Transient receptor potential cation channels

ANKRD: Ankyrin repeat domain containing

IUPHAR Guide to PHARMACOLOGY protein family classification: TRPV5

Transient Receptor Potential channels

5/7 InterPro protein domains (see all 7):

IPR008344 TRPV5/TRPV6_channel

IPR024862 TRPV_channel

IPR020683 Ankyrin_rpt-contain_dom

IPR005821 Ion_trans_dom

IPR004729 TRP_channel

Graphical View of Domain Structure for InterPro Entry Q9NQA5

ProtoNet protein and cluster: Q9NQA5

1 Blocks protein domain: IPB002110 Ankyrin repeat signature

UniProtKB/Swiss-Prot: TRPV5_HUMAN, Q9NQA5

Similarity: Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV5 sub-subfamily

Similarity: Contains 5 ANK repeats

TRPV5 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: TRPV5_HUMAN, Q9NQA5

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)

Enzyme regulation: Activated by WNK3

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

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	--

TRPV5 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for TRPV5:

Upregulation of Wnt/beta-caten

9 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Trpv5):

behavior/neurological	cellular	digestive/alimentary	growth/size	hematopoietic system
homeostasis/metabolism	immune system	renal/urinary system	skeleton

TRPV5 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Trpv5^tm1Bind for TRPV5

inGenious Targeting Laboratory - Custom generated mouse model solutions for TRPV5

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TRPV5

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TRPV5

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TRPV5

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for TRPV5
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRPV5

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for TRPV5 About

See pathways by source

SuperPath

Contained pathways About

CREB Pathway

Intracellular Calcium Signaling

0.50

Osteoclast Signaling

Osteoclast Signaling

Endocrine and other factor-regulated calcium reabsorption

Endocrine and other factor-regulated calcium reabsorption

Calcium channels

Calcium channels

Pathways by source See SuperPaths
Show all pathways

1 EMD Millipore Pathway for TRPV5

Calcium channels

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for TRPV5

Intracellular Calcium Signaling

1 BioSystems Pathway for TRPV5

Osteoclast Signaling

1 Kegg Pathway (Kegg details for TRPV5):

Endocrine and other factor-regulated calcium reabsorption

TRPV5 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TRPV5

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

5/11 Interacting proteins for TRPV5 (Q9NQA5^{2, 3} ENSP00000265310⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 11)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CALB1	P05937²^,³, ENSP00000265431⁴	MINT-2834893 MINT-2834584 MINT-2834867 MINT-2834926 I2D: score=2 STRING: ENSP00000265431
ANXA2	P07355³, ENSP00000346032⁴	I2D: score=1 STRING: ENSP00000346032
S100A10	P60903³, ENSP00000357799⁴	I2D: score=1 STRING: ENSP00000357799
USF2	Q15853³, ENSP00000222305⁴	I2D: score=1 STRING: ENSP00000222305
EWSR1	Q01844³, ENSP00000381031⁴	I2D: score=2 STRING: ENSP00000381031

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006811	ion transport	--	--
GO:0006816	calcium ion transport	TAS	15665527
GO:0051262	protein tetramerization	ISS	--

TRPV5 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TRPV5 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for TRPV5 available from Tocris Bioscience About this table

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

1 HMDB Compound for TRPV5 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

4 IUPHAR Ligands for TRPV5 (TRPV5) About this table

Ligand	Type	Action	Affinity	Pubmed IDs
ruthenium red	Channel blocker	None	6.9	--
econazole	Channel blocker	None	6.9	--
Mg²⁺	Channel blocker	None	6.9	--
miconazole	Channel blocker	None	6.9	--

7 Novoseek inferred chemical compound relationships for TRPV5 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
1,25 dihydroxy vitamin d3	61.8	5	15100231 (2), 11741335 (1), 11423563 (1)
ruthenium	59.3	5	11588099 (2), 19295174 (1), 11744752 (1), 12634930 (1)
calcium	57.6	96	11352507 (8), 15319523 (5), 12869611 (3), 11549322 (3) (see all 30)
bapta	54.9	3	11352507 (1), 10660551 (1), 11588099 (1)
vitamin d	50.9	4	11741335 (2), 17346947 (1), 16650747 (1)
magnesium	30.8	5	16230466 (4), 11417220 (1)
aspartate	2.68	2	11352507 (1), 11880255 (1)

Search CenterWatch for drugs/clinical trials and news about TRPV5

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TRPV5 gene:

NM_019841.4

Unigene Cluster for TRPV5:

Transient receptor potential cation channel, subfamily V, member 5

Hs.283369 [show with all ESTs]

Unigene Representative Sequence: AF304464

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000265310(uc003wby.1) ENST00000439304 ENST00000442623(uc003wbz.3)

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Additional mRNA sequence:

AF304464.1 AJ271207.2 AJ487965.2 BC034740.1

2 DOTS entries:

DT.92421847 DT.99941323

7 AceView cDNA sequences:

AF304464 BX281636 NM_019841 AJ487965 AJ271207 BC034740 BI761603

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TRPV5 expression in normal human tissues (normalized intensities) TRPV5 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GGAATAATGT

About this image

TRPV5 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/1 selected tissues (see all 1) fully expand


Kidney (Urinary System)
Distal Tubule Cells Distal Tubule

See TRPV5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TRPV5

SOURCE GeneReport for Unigene cluster: Hs.283369

UniProtKB/Swiss-Prot: TRPV5_HUMAN, Q9NQA5

Tissue specificity: Expressed at high levels in kidney, small intestine and pancreas, and at lower levels in

testis, prostate, placenta, brain, colon and rectum

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRPV5

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for TRPV5 gene from 6/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Trpv5^{1 , 5}	transient receptor potential cation channel, subfamily V, member 5 less^{1, 5}	81.76(n)¹ 81.67(a)¹		6 (19.83 cM)⁵ 194352¹ NM_001007572.2¹ NP_001007573.1¹ 41652770⁵
chicken (Gallus gallus)	Aves	--	--	69(a)	1 → many	1(77385714-77417888)
lizard (Anolis carolinensis)	Reptilia	-- --	Uncharacterized protein	67(a) 63(a)	many ↔ many many ↔ many	GL343391.1(246038-283384) GL343499.1(35241-159052)
zebrafish (Danio rerio)	Actinopterygii	trpv6⁶	transient receptor potential cation channel, subfa...	46(a)	1 → many	16(14044291-14069829)
fruit fly (Drosophila melanogaster)	Insecta	nan³	calcium ion transport calcium channel	27(a)		70D3 --
worm (Caenorhabditis elegans)	Secernentea	ocr-4³	ankyrin-like protein	30(a) (best of 2)		IV(7329867-7332932) --

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for TRPV5 gene

TRPV6² TRPV3² TRPV1² TRPV2² TRPV4²

5 SIMAP similar genes for TRPV5 using alignment to 3 protein entries: TRPV5_HUMAN (see all proteins):

ECAC1 ECAC2 TRPV6 FLJ00078 TRPV4

TRPV5 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs4252512^1,2	C,F,H	--	142605221(-)	`CACCAA/GCTGCA`	1	--	ds500¹		24		NS EA NA WA	2476
rs143415942^1,2		--	142605314(+)	`TCCCAC/TGTAAG`	1	--	ds500¹		0	--	--	--	--
rs4252511^1,2	C,F,A,H	--	142605336(-)	`AGGCTA/TTTCTG`	1	--	ds500¹ ese³		18		NS EA NA WA CSA	894
rs4252510^1,2	C,F,H	--	142605480(-)	`CTCACG/ATATTT`	1	--	ds500¹ ese³		19		NS EA NA WA	1428
rs147177496^1,2	C	--	142605703(+)	`CTCTCC/TATCCC`	2	R G	mis¹		0	--	--	--	--
rs138795668^1,2	F	--	142605725(+)	`TTCAGT/CCCAAG`	2	/G	syn¹		1		NA	4552
rs4252509^1,2,4	C,H	--	142605734(-)	`CACTTG/CAATCT`	2	/F /L	mis¹ ese³		8		NS EA NA	500
rs140536668^1,2	C	--	142605741(+)	`AGTGCC/TCCAGG`	2	E G	mis¹		1		NA	4552
rs181162767^1,2	C	--	142605774(+)	`AGCCTC/TGGTGA`	2	Q R	mis¹		0	--	--	--	--
rs200440258^1,2	C	--	142605828(+)	`GAGCCA/GAAGAG`	2	S L	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TRPV5 (142605267 - 142630905 bp)

Structural Variations
Database of Genomic Variants (DGV) 8 variations for TRPV5: About this table

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

Human Gene Mutation Database (HGMD): TRPV5

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 606679 OMIM disorders: --

11 diseases for TRPV5: About MalaCards

hypervitaminosis d aromatase deficiency pseudohypoaldosteronism rickets

hypercalcemia crohn's disease kidney disease hypertension

retinitis leukemia prostatitis

1 disease from the University of Copenhagen DISEASES database for TRPV5:

Hypervitaminosis D

TRPV5 for disorders About GeneDecksing

Genetic Association Database (GAD): TRPV5
Human Genome Epidemiology (HuGE) Navigator: TRPV5 (3 documents)

Export disorders for TRPV5 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for TRPV5 gene, integrated from 9 sources (see all 94):
(articles sorted by number of sources associating them with TRPV5)

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Molecular cloning, tissue distribution, and chromosomal mapping of the human epithelial calcium channel (ECAC1). (PubMed id 10945469)^{1, 2, 3, 9} Mueller D.... Bindels R.J.M. (2000)
Structural conservation of the genes encoding CaT1, CaT2, and related cation channels. (PubMed id 11549322)^{1, 2, 9} Peng J.-B.... Hediger M.A. (2001)
Gene structure and chromosomal mapping of human epithelial calcium channel. (PubMed id 10944439)^{1, 3, 9} Muller D.... Bindels R.J. (2000)
High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)^{1, 4} Yerges L.M....Zmuda J.M. (2009)
International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels. (PubMed id 16382100)^{1, 3} Clapham D.E....Schultz G. (2005)
Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)^{1, 2} Scherer S.W.... Tsui L.-C. (2003)
TRPV5 gene polymorphisms in renal hypercalciuria. (PubMed id 19131347)^{1, 9} Renkema K.Y....Hoenderop J.G. (2009)
WNK4 regulates the secretory pathway via which TRPV5 is targeted to the plasma membrane. (PubMed id 18703016)^{1, 9} Jiang Y....Peng J.B. (2008)
Molecular determinants in TRPV5 channel assembly. (PubMed id 15489237)^{1, 9} Chang Q....Hoenderop J.G. (2004)
Expression of transient receptor potential vanilloid channels TRPV5 and TRPV6 in retinal pigment epithelium. (PubMed id 20405023)^{1, 9} Kennedy B.G....Mangini N.J. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 56302	HGNC: 3145	AceView: TRPV5	Ensembl:ENSG00000127412	euGenes: HUgn56302
ECgene: TRPV5	Kegg: 56302	H-InvDB: TRPV5

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for TRPV5	Pharmacogenomics, SNPs, Pathways
SeattleSNPs	http://pga.gs.washington.edu/data/trpv5/

Intellectual Property for TRPV5 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for TRPV5 gene:
Search GeneIP for patents involving TRPV5

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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