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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
  • Alliance
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
    UniProt: Q9HBA0

  • Chr Location
    12q24.11; chr12:109783087-109833407 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Trpv4 mouse models; 2 with human TRPV4 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
IDs
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
    51 phenotypes from 4 alleles in 5 genetic backgrounds
    2 images
    88 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygotes for a null allele show abnormal touch/ nociception and late-onset hearing loss. Homozygotes for a different null allele show impaired bladder voiding, abnormalities in touch/ nociception, osmotic regulation and vasodilation, ocular hypertension but no hearing or vestibular deficits.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • 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
    less
    • SNPs within 2kb
      148 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000001068 transient receptor potential cation channel TRPV4
    • InterPro Domains
      IPR002110 Ankyrin repeat
      IPR020683 Ankyrin repeat-containing domain
      IPR036770 Ankyrin repeat-containing domain superfamily
      IPR005821 Ion transport domain
      IPR024862 Transient receptor potential cation channel subfamily V
      IPR004729 Transient receptor potential channel
      IPR008347 Transient receptor potential channel, vanilloid 1-4
      IPR008348 Transient receptor potential channel, vanilloid 4
    Molecular
    Reagents
    less
    • All nucleic 33
      cDNA 30
      Primer pair 2
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1918936
    References
    more
    • Summaries
      All 161
      Developmental Gene Expression 12
      Diseases 1
      Gene Ontology 16
      Phenotypes 88
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:264157 Shepherd AJ, et al., Angiotensin II Triggers Peripheral Macrophage-to-Sensory Neuron Redox Crosstalk to Elicit Pain. J Neurosci. 2018 Aug 8;38(32):7032-7057

    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
    09/11/2018
    MGI 6.12
    The Jackson Laboratory