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

Gene ID: 56302, updated on 27-Nov-2024

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
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Genomic context

See TRPV5 in Genome Data Viewer
Location:
7q34
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (142908101..142933746, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (144263556..144289165, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (142605267..142630843, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene EPH receptor B6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:142564181-142564714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:142564989-142565924 Neighboring gene transient receptor potential cation channel subfamily V member 6 Neighboring gene Sharpr-MPRA regulatory region 15349 Neighboring gene MPRA-validated peak6804 silencer Neighboring gene uncharacterized LOC105375542 Neighboring gene LLLL and CFNLAS motif containing 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 calcium ion transport into cytosol IEA
Inferred from Electronic Annotation
more info
 
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
 
part_of calcium channel complex IEA
Inferred from Electronic Annotation
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

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

  1. NG_046912.1 RefSeqGene

    Range
    4978..30623
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_019841.7NP_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:117147
    ANK; ANK repeat [structural motif]
    cd22192
    Location:29637
    TRPV5-6; Transient Receptor Potential channel, Vanilloid subfamily (TRPV), types 5 and 6
    cd22296
    Location:649725
    CBD_TRPV5_C; C-terminal CaM binding domain found in transient receptor potential cation channel subfamily V member 5 (TRPV5) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    142908101..142933746 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187562.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    931168..956813 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    144263556..144289165 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)