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TRPV4 transient receptor potential cation channel subfamily V member 4 [ Homo sapiens (human) ]

Gene ID: 59341, updated on 26-Oct-2021

Summary

Official Symbol
TRPV4provided by HGNC
Official Full Name
transient receptor potential cation channel subfamily V member 4provided by HGNC
Primary source
HGNC:HGNC:18083
See related
Ensembl:ENSG00000111199 MIM:605427
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
SMAL; VRL2; BCYM3; CMT2C; SPSMA; TRP12; VROAC; HMSN2C; OTRPC4; SSQTL1
Summary
This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
Expression
Broad expression in kidney (RPKM 5.7), salivary gland (RPKM 3.0) and 14 other tissues See more
Orthologs
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Genomic context

See TRPV4 in Genome Data Viewer
Location:
12q24.11
Exon count:
19
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (109783087..109833398, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (110220892..110271203, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 250 Neighboring gene family with sequence similarity 222 member A Neighboring gene FAM222A antisense RNA 1 Neighboring gene HNF1 motif-containing MPRA enhancer 206 Neighboring gene uncharacterized LOC105369975 Neighboring gene microRNA 4497 Neighboring gene glycolipid transfer protein Neighboring gene RNA, 7SL, cytoplasmic 441, pseudogene

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?

Phenotypes

Associated conditions

Description Tests
Avascular necrosis of femoral head, primary, 2 Compare labs
Brachyrachia (short spine dysplasia) Compare labs
Charcot-Marie-Tooth disease axonal type 2C Compare labs
Digital arthropathy-brachydactyly, familial Compare labs
Distal spinal muscular atrophy, congenital nonprogressive Compare labs
Metatrophic dysplasia Compare labs
Parastremmatic dwarfism Compare labs
Scapuloperoneal spinal muscular atrophy Compare labs
Sodium serum level quantitative trait locus 1
MedGen: C3150755 OMIM: 613508 GeneReviews: Not available
Compare labs
Spondyloepiphyseal dysplasia Maroteaux type Compare labs
Spondylometaphyseal dysplasia, Kozlowski type Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables SH2 domain binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables actin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables actin filament binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables alpha-tubulin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables beta-tubulin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables calcium channel activity TAS
Traceable Author Statement
more info
 
enables calmodulin binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables cation channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables lipid binding IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables microtubule binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables osmosensor activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase C binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables stretch-activated, cation-selective, calcium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
involved_in actin cytoskeleton reorganization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in actin filament organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in blood vessel endothelial cell delamination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in calcium ion import 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
PubMed 
involved_in calcium ion import into cytosol IDA
Inferred from Direct Assay
more info
PubMed 
involved_in calcium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in calcium ion transmembrane transport TAS
Traceable Author Statement
more info
 
involved_in calcium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in calcium ion transport NAS
Non-traceable Author Statement
more info
PubMed 
involved_in cartilage development involved in endochondral bone morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cell volume homeostasis TAS
Traceable Author Statement
more info
PubMed 
involved_in cell-cell junction assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular calcium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular hypotonic response IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular hypotonic response ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular hypotonic salinity response IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to heat ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to osmotic stress ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cortical microtubule organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in diet induced thermogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in energy homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in glucose homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in hyperosmotic salinity response IEA
Inferred from Electronic Annotation
more info
 
involved_in microtubule polymerization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in multicellular organismal water homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of brown fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in osmosensory signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in osmosensory signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in osmosensory signaling pathway TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of ERK1 and ERK2 cascade IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of JNK cascade IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of chemokine (C-C motif) ligand 5 production IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of chemokine (C-X-C motif) ligand 1 production IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cytosolic calcium ion concentration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of interleukin-6 production IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of macrophage chemotaxis IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of macrophage inflammatory protein 1 alpha production IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of microtubule depolymerization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of monocyte chemotactic protein-1 production IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of striated muscle contraction IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of vascular permeability IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of aerobic respiration IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of response to osmotic stress IEA
Inferred from Electronic Annotation
more info
 
involved_in response to insulin IEA
Inferred from Electronic Annotation
more info
 
involved_in response to mechanical stimulus TAS
Traceable Author Statement
more info
PubMed 
involved_in vasopressin secretion IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in adherens junction ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in cell surface IEA
Inferred from Electronic Annotation
more info
 
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cortical actin cytoskeleton ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with cytoplasmic microtubule ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in filopodium ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in focal adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in growth cone ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in lamellipodium ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in ruffle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
transient receptor potential cation channel subfamily V member 4
Names
OSM9-like transient receptor potential channel 4
osm-9-like TRP channel 4
osmosensitive transient receptor potential channel 4
transient receptor potential protein 12
vanilloid receptor-like channel 2
vanilloid receptor-related osmotically activated channel

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_017090.1 RefSeqGene

    Range
    5001..55321
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_372

mRNA and Protein(s)

  1. NM_001177428.1NP_001170899.1  transient receptor potential cation channel subfamily V member 4 isoform e

    See identical proteins and their annotated locations for NP_001170899.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (c) is shorter, compared to isoform a.
    Source sequence(s)
    AB032427, AC007834, DA869138, DQ059644
    Consensus CDS
    CCDS53828.1
    UniProtKB/Swiss-Prot
    Q9HBA0
    Related
    ENSP00000442167.1, ENST00000541794.5
    Conserved Domains (5) summary
    cd00204
    Location:236343
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam00520
    Location:511683
    Ion_trans; Ion transport protein
    pfam09685
    Location:502548
    DUF4870; Domain of unknown function (DUF4870)
    pfam12796
    Location:242347
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:191231
    ANK; ANK repeat [structural motif]
  2. NM_001177431.1NP_001170902.1  transient receptor potential cation channel subfamily V member 4 isoform d

    See identical proteins and their annotated locations for NP_001170902.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks a segment in the 5' coding region coding region, compared to variant 1. The encoded isoform (d) is shorter, compared to isoform a.
    Source sequence(s)
    AB032427, AC007834, AF279673, DQ059645
    Consensus CDS
    CCDS53829.1
    UniProtKB/Swiss-Prot
    Q9HBA0
    Related
    ENSP00000444336.1, ENST00000536838.1
    Conserved Domains (5) summary
    cd00204
    Location:204356
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam00520
    Location:524696
    Ion_trans; Ion transport protein
    pfam09685
    Location:515561
    DUF4870; Domain of unknown function (DUF4870)
    pfam12796
    Location:255360
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:203234
    ANK; ANK repeat [structural motif]
  3. NM_001177433.1NP_001170904.1  transient receptor potential cation channel subfamily V member 4 isoform c

    See identical proteins and their annotated locations for NP_001170904.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two in-frame exons in the coding region, compared to variant 1. The encoded isoform (c) is shorter, compared to isoform a.
    Source sequence(s)
    AB032427, BC143315, DQ059646
    Consensus CDS
    CCDS53827.1
    UniProtKB/Swiss-Prot
    Q9HBA0
    Related
    ENSP00000443611.1, ENST00000544971.5
    Conserved Domains (4) summary
    cd00204
    Location:236336
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    TIGR00870
    Location:149692
    trp; transient-receptor-potential calcium channel protein
    pfam09685
    Location:442488
    DUF4870; Domain of unknown function (DUF4870)
    sd00045
    Location:191231
    ANK; ANK repeat [structural motif]
  4. NM_021625.5NP_067638.3  transient receptor potential cation channel subfamily V member 4 isoform a

    See identical proteins and their annotated locations for NP_067638.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC007834, AJ296305
    Consensus CDS
    CCDS9134.1
    UniProtKB/Swiss-Prot
    Q9HBA0
    Related
    ENSP00000261740.2, ENST00000261740.7
    Conserved Domains (5) summary
    cd00204
    Location:238390
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam00520
    Location:558730
    Ion_trans; Ion transport protein
    pfam09685
    Location:549595
    DUF4870; Domain of unknown function (DUF4870)
    pfam12796
    Location:289394
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:237268
    ANK; ANK repeat [structural motif]
  5. NM_147204.2NP_671737.1  transient receptor potential cation channel subfamily V member 4 isoform b

    See identical proteins and their annotated locations for NP_671737.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1, resulting in an isoform (b) that lacks an internal segment compared to isoform a.
    Source sequence(s)
    AB032427, AB073669, AC007834, BC143315
    Consensus CDS
    CCDS9135.1
    UniProtKB/Swiss-Prot
    Q9HBA0
    Related
    ENSP00000442738.1, ENST00000537083.5
    Conserved Domains (4) summary
    cd00204
    Location:238383
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    TIGR00870
    Location:149739
    trp; transient-receptor-potential calcium channel protein
    pfam09685
    Location:489535
    DUF4870; Domain of unknown function (DUF4870)
    sd00045
    Location:237268
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    109783087..109833398 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005253918.1XP_005253975.1  transient receptor potential cation channel subfamily V member 4 isoform X3

    See identical proteins and their annotated locations for XP_005253975.1

    UniProtKB/Swiss-Prot
    Q9HBA0
    Related
    ENSP00000502135.1, ENST00000675670.1
    Conserved Domains (5) summary
    cd00204
    Location:238390
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam00520
    Location:558730
    Ion_trans; Ion transport protein
    pfam09685
    Location:549595
    DUF4870; Domain of unknown function (DUF4870)
    pfam12796
    Location:289394
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:237268
    ANK; ANK repeat [structural motif]
  2. XM_017019774.1XP_016875263.1  transient receptor potential cation channel subfamily V member 4 isoform X3

    UniProtKB/Swiss-Prot
    Q9HBA0
    Conserved Domains (5) summary
    cd00204
    Location:238390
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam00520
    Location:558730
    Ion_trans; Ion transport protein
    pfam09685
    Location:549595
    DUF4870; Domain of unknown function (DUF4870)
    pfam12796
    Location:289394
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:237268
    ANK; ANK repeat [structural motif]
  3. XM_011538633.2XP_011536935.2  transient receptor potential cation channel subfamily V member 4 isoform X5

  4. XM_011538631.2XP_011536933.2  transient receptor potential cation channel subfamily V member 4 isoform X2

  5. XM_011538632.2XP_011536934.2  transient receptor potential cation channel subfamily V member 4 isoform X4

  6. XM_011538630.2XP_011536932.2  transient receptor potential cation channel subfamily V member 4 isoform X1

  7. XM_011538634.2XP_011536936.2  transient receptor potential cation channel subfamily V member 4 isoform X6

  8. XM_011538635.2XP_011536937.1  transient receptor potential cation channel subfamily V member 4 isoform X7

    Conserved Domains (2) summary
    TIGR00870
    Location:200682
    trp; transient-receptor-potential calcium channel protein
    sd00045
    Location:288319
    ANK; ANK repeat [structural motif]
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