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Trpv4 Gene Detail
Summary
  • Symbol
    Trpv4
  • Name
    transient receptor potential cation channel, subfamily V, member 4
  • Synonyms
    0610033B08Rik, OTRPC4, Trp12, VRL-2, VROAC, VR-OAC
  • Feature Type
    protein coding gene
  • IDs
    MGI:1926945
    NCBI Gene: 63873
  • Gene Overview
    MyGene.info: TRPV4
Location & Maps
more
  • Sequence Map
    Chr5:114622152-114658421 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      36270 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 55.99 cM, cytoband F
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    TRPV4, transient receptor potential cation channel subfamily V member 4
  • Vertebrate Orthologs
    9
  • Human Ortholog
    TRPV4, transient receptor potential cation channel subfamily V member 4
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BCYM3, CMT2C, HMSN2C, OTRPC4, SMAL, SPSMA, SSQTL1, TRP12, VRL2, VROAC
  • Links
    NCBI Gene ID: 59341
    neXtProt AC: NX_Q9HBA0

  • Chr Location
    12q24.1; chr12:109783087-109833407 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Trpv4 mouse models; 9 with human TRPV4 associations

Human Disease Mouse Models
       Deafness, Autosomal Dominant 25; DFNA25   OMIM: 605583 View 1 model
       Brachyolmia Type 3; BCYM3   OMIM: 113500
Digital Arthropathy-Brachydactyly, Familial; FDAB   OMIM: 606835
Hereditary Motor and Sensory Neuropathy, Type IIC; HMSN2C   OMIM: 606071
Metatropic Dysplasia   OMIM: 156530
Neuronopathy, Distal Hereditary Motor, Type Viii; HMN8   OMIM: 600175
Parastremmatic Dwarfism   OMIM: 168400
Scapuloperoneal Spinal Muscular Atrophy; SPSMA   OMIM: 181405
Spondyloepiphyseal Dysplasia, Maroteaux Type   OMIM: 184095
Spondylometaphyseal Dysplasia, Kozlowski Type; SMDK   OMIM: 184252
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    30 phenotypes from 3 alleles in 4 genetic backgrounds
    2 images
    70 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Radiation induced
    1
  • Targeted
    6
  • Genomic Mutations
    2 involving Trpv4
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000014501 VEGA Gene Model | MGI Sequence Detail 36270 C57BL/6J ±  kb
transcript OTTMUST00000034430 VEGA | MGI Sequence Detail 3228 Not Applicable  
polypeptide OTTMUSP00000015421 VEGA | MGI Sequence Detail 871 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    148 from dbSNP Build 142
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000001068 transient receptor potential cation channel TRPV4
  • InterPro Domains
    IPR002110 Ankyrin repeat
    IPR020683 Ankyrin repeat-containing domain
    IPR005821 Ion transport domain
    IPR004729 Transient receptor potential channel
    IPR008347 Transient receptor potential channel, vanilloid 1-4
    IPR008348 Transient receptor potential channel, vanilloid 4
Molecular
Reagents
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  • All nucleic 32
    cDNA 29
    Primer pair 2
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:1918936
References
more
  • Summaries
    All 126
    Developmental Gene Expression 7
    Diseases 1
    Gene Ontology 15
    Phenotypes 70
  • Earliest
    J:65451 Strotmann R, et al., OTRPC4, a nonselective cation channel that confers sensitivity to extracellular osmolarity. Nat Cell Biol. 2000 Oct;2(10):695-702
  • Latest
    J:232129 Jo AO, et al., Differential volume regulation and calcium signaling in two ciliary body cell types is subserved by TRPV4 channels. Proc Natl Acad Sci U S A. 2016 Apr 5;113(14):3885-90

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory