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

Gene ID: 59341, updated on 21-Oct-2014
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; HPRD:05667; MIM:605427; Vega:OTTHUMG00000169277
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; 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]
See TRPV4 in Epigenomics, MapViewer
Location:
12q24.1
Exon count:
17
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 12 NC_000012.12 (109783087..109833407, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (110220892..110271212, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene mevalonate kinase Neighboring gene family with sequence similarity 222, member A Neighboring gene FAM222A antisense RNA 1 Neighboring gene microRNA 4497 Neighboring gene glycolipid transfer protein Neighboring gene trichoplein, keratin filament binding

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Inflammatory mediator regulation of TRP channels, organism-specific biosystem (from KEGG)
    Inflammatory mediator regulation of TRP channels, organism-specific biosystemThe TRP channels that exhibit a unique response to temperature have been given the name thermo-TRPs. Among all thermo- TRP channels, TRPV1-4, TRPM8, and TRPA1 are expressed in subsets of nociceptive...
  • Inflammatory mediator regulation of TRP channels, conserved biosystem (from KEGG)
    Inflammatory mediator regulation of TRP channels, conserved biosystemThe TRP channels that exhibit a unique response to temperature have been given the name thermo-TRPs. Among all thermo- TRP channels, TRPV1-4, TRPM8, and TRPA1 are expressed in subsets of nociceptive...
  • Ion channel transport, organism-specific biosystem (from REACTOME)
    Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
  • Stimuli-sensing channels, organism-specific biosystem (from REACTOME)
    Stimuli-sensing channels, organism-specific biosystemIon channels that mediate sensations such as pain, warmth, cold, taste pressure and vision. Channels that mediate these sensations include acid-sensing ion channels (ASICs) (Wang & Xu 2011, Qadri et ...
  • TRP channels, organism-specific biosystem (from REACTOME)
    TRP channels, organism-specific biosystemTransient receptor potential (TRP) channel proteins were first discovered in Drosophila melanogaster and have many homologues in other species including humans. TRPs form cationic channels that can ...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
SH2 domain binding ISS
Inferred from Sequence or Structural Similarity
more info
 
actin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
actin filament binding ISS
Inferred from Sequence or Structural Similarity
more info
 
alpha-tubulin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
beta-tubulin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
calmodulin binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
cation channel activity IDA
Inferred from Direct Assay
more info
PubMed 
microtubule binding ISS
Inferred from Sequence or Structural Similarity
more info
 
osmosensor activity IEA
Inferred from Electronic Annotation
more info
 
protein kinase C binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
actin cytoskeleton reorganization ISS
Inferred from Sequence or Structural Similarity
more info
 
actin filament organization ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion import ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion transmembrane transport TAS
Traceable Author Statement
more info
 
calcium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion transport NAS
Non-traceable Author Statement
more info
PubMed 
cell death IEA
Inferred from Electronic Annotation
more info
 
cell volume homeostasis TAS
Traceable Author Statement
more info
PubMed 
cell-cell junction assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular calcium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
cellular hypotonic response ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to heat ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to osmotic stress ISS
Inferred from Sequence or Structural Similarity
more info
 
cortical microtubule organization ISS
Inferred from Sequence or Structural Similarity
more info
 
hyperosmotic salinity response IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
microtubule polymerization ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
osmosensory signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
osmosensory signaling pathway TAS
Traceable Author Statement
more info
PubMed 
positive regulation of cytosolic calcium ion concentration IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of microtubule depolymerization ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of response to osmotic stress IEA
Inferred from Electronic Annotation
more info
 
response to mechanical stimulus TAS
Traceable Author Statement
more info
PubMed 
transmembrane transport TAS
Traceable Author Statement
more info
 
vasopressin secretion IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
adherens junction ISS
Inferred from Sequence or Structural Similarity
more info
 
cell surface IEA
Inferred from Electronic Annotation
more info
 
cilium IEA
Inferred from Electronic Annotation
more info
 
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
 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
filopodium ISS
Inferred from Sequence or Structural Similarity
more info
 
focal adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
growth cone ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
lamellipodium ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
ruffle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
transient receptor potential cation channel subfamily V member 4
Names
transient receptor potential cation channel subfamily V member 4
osm-9-like TRP channel 4
vanilloid receptor-like channel 2
transient receptor potential protein 12
OSM9-like transient receptor potential channel 4
osmosensitive transient receptor potential channel 4
vanilloid receptor-related osmotically activated channel

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 

    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 proteins identical to 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, OTTHUMP00000240664, ENST00000541794, OTTHUMT00000403275
    Conserved Domains (3) 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:507671
    Ion_trans; Ion transport protein
    pfam12796
    Location:242346
    Ank_2; Ankyrin repeats (3 copies)
  2. NM_001177431.1NP_001170902.1  transient receptor potential cation channel subfamily V member 4 isoform d

    See proteins identical to 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, OTTHUMP00000240665, ENST00000536838, OTTHUMT00000403276
    Conserved Domains (3) 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:520684
    Ion_trans; Ion transport protein
    pfam12796
    Location:180284
    Ank_2; Ankyrin repeats (3 copies)
  3. NM_001177433.1NP_001170904.1  transient receptor potential cation channel subfamily V member 4 isoform c

    See proteins identical to 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, OTTHUMP00000240662, ENST00000544971, OTTHUMT00000403273
    Conserved Domains (2) summary
    TIGR00870
    Location:149692
    trp; transient-receptor-potential calcium channel protein
    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 ...
  4. NM_021625.4NP_067638.3  transient receptor potential cation channel subfamily V member 4 isoform a

    See proteins identical to NP_067638.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AB032427, AC007834, AJ296305
    Consensus CDS
    CCDS9134.1
    UniProtKB/Swiss-Prot
    Q9HBA0
    Related
    ENSP00000261740, OTTHUMP00000240660, ENST00000261740, OTTHUMT00000403271
    Conserved Domains (3) 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:554718
    Ion_trans; Ion transport protein
    pfam12796
    Location:214318
    Ank_2; Ankyrin repeats (3 copies)
  5. NM_147204.2NP_671737.1  transient receptor potential cation channel subfamily V member 4 isoform b

    See proteins identical to 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, OTTHUMP00000240663, ENST00000537083, OTTHUMT00000403274
    Conserved Domains (3) 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 ...
    pfam00520
    Location:494658
    Ion_trans; Ion transport protein
    pfam12796
    Location:214318
    Ank_2; Ankyrin repeats (3 copies)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

    Range
    109783087..109833407
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005253919.1XP_005253976.1  

    See proteins identical to XP_005253976.1

    UniProtKB/Swiss-Prot
    Q9HBA0
    Conserved Domains (3) 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:520684
    Ion_trans; Ion transport protein
    pfam12796
    Location:180284
    Ank_2; Ankyrin repeats (3 copies)
  2. XM_005253918.1XP_005253975.1  

    See proteins identical to XP_005253975.1

    UniProtKB/Swiss-Prot
    Q9HBA0
    Conserved Domains (3) 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:554718
    Ion_trans; Ion transport protein
    pfam12796
    Location:214318
    Ank_2; Ankyrin repeats (3 copies)

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    107237035..107287147
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

    Range
    110188702..110239020
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)