TRPV5 transient receptor potential cation channel subfamily V member 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TRPV5provided by HGNC
Official Full Name: transient receptor potential cation channel subfamily V member 5provided by HGNC
Primary source: HGNC:HGNC:3145
See related: Ensembl:ENSG00000127412 MIM:606679; AllianceGenome:HGNC:3145
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CAT2; ECAC1; OTRPC3
Summary: 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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 7q34

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (142908101..142933746, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (144263556..144289165, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (142605267..142630843, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Alterations in the microenvironment and the effects produced of TRPV5 in osteoporosis.
Title: Alterations in the microenvironment and the effects produced of TRPV5 in osteoporosis.
Association of TRPV5, CASR, and CALCR genetic variants with kidney stone disease susceptibility in Egyptians through main effects and gene-gene interactions.
Title: Association of TRPV5, CASR, and CALCR genetic variants with kidney stone disease susceptibility in Egyptians through main effects and gene-gene interactions.
Association of TRPV5 gene polymorphism with calcium urolithiasis: a case-control study from West Bengal, India.
Title: Association of TRPV5 gene polymorphism with calcium urolithiasis: a case-control study from West Bengal, India.
TRPV5 in renal tubular calcium handling and its potential relevance for nephrolithiasis.
Title: TRPV5 in renal tubular calcium handling and its potential relevance for nephrolithiasis.
cryoelectron microscopic analysis of the structural basis for TRPV5 channel inhibition by econazole
Title: Structural basis of TRPV5 channel inhibition by econazole revealed by cryo-EM.
rs4252424 was significantly associated with lead poisoning susceptibility, measured by blood lead level in Chinese workers.
Title: Association between single nucleotide polymorphism (rs4252424) in TRPV5 calcium channel gene and lead poisoning in Chinese workers.
TRPV5 and TRPV6 lack a positively charged residue in the TM4-TM5 loop that was shown to interact with PI(4,5)P2 in TRPV1, which shows high affinity for this lipid
Title: A molecular determinant of phosphoinositide affinity in mammalian TRPV channels.
The alterations may lead to misfolding of TRPV5, reduction in translocation of the channel to the plasma membrane and/or impaired Ca(2+) transport function of the channel, and ultimately disrupt TRPV5-mediated Ca(2+) reabsorption.
Title: The L530R variation associated with recurrent kidney stones impairs the structure and function of TRPV5.
These findings indicate that the A563T variation induces structural, dynamical, and electrostatic changes in the TRPV5 pore, providing structural insight into the functional alterations associated with the A563T variation.
Title: Molecular Modeling of the Structural and Dynamical Changes in Calcium Channel TRPV5 Induced by the African-Specific A563T Variation.
Data found that a TRPV5 polymorphism (rs4236480) was observed to be associated with stone multiplicity of calcium nephrolithiasis, as the risk of stone multiplicity was higher in patients with the TT+CT genotype than in patients with the CC genotype
Title: A Single Nucleotide Polymorphism (rs4236480) in TRPV5 Calcium Channel Gene Is Associated with Stone Multiplicity in Calcium Nephrolithiasis Patients.

Submit: New GeneRIF Correction See all GeneRIFs (48)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH18225 (e-PCR)
- UniSTS:53073

TRPV5__5145 (e-PCR)
- UniSTS:466532

SHGC-33735 (e-PCR)
- UniSTS:42915

SHGC-142460 (e-PCR)
- UniSTS:171468

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables calcium channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables calcium channel activity	TAS Traceable Author Statement more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in calcium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium ion import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion transmembrane transport	TAS Traceable Author Statement more info
involved_in calcium ion transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in calcium ion transport	TAS Traceable Author Statement more info	PubMed
involved_in protein homotetramerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of urine volume	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: transient receptor potential cation channel subfamily V member 5

Names: calcium transport protein 2; calcium transporter 2; epithelial calcium channel 1; osm-9-like TRP channel 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_046912.1 RefSeqGene

Range

4978..30623

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_019841.7 → NP_062815.3 transient receptor potential cation channel subfamily V member 5

Status: REVIEWED

Source sequence(s)

AC245427, AF304464, BC034740

Consensus CDS

CCDS5875.1

UniProtKB/Swiss-Prot

A0A0A6YY98, A4D2H7, E9PBZ6, Q8N4C1, Q8NDW5, Q8NDX7, Q8NDX8, Q96PM6, Q9NQA5

UniProtKB/TrEMBL

H7C2J6

Related

ENSP00000265310.1, ENST00000265310.6

Conserved Domains (3) summary

sd00045
Location:117 → 147

ANK; ANK repeat [structural motif]

cd22192
Location:29 → 637

TRPV5-6; Transient Receptor Potential channel, Vanilloid subfamily (TRPV), types 5 and 6

cd22296
Location:649 → 725

CBD_TRPV5_C; C-terminal CaM binding domain found in transient receptor potential cation channel subfamily V member 5 (TRPV5) and similar proteins