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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
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:114622152-114658421 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 55.99 cM, cytoband F
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    148 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1926945
protein coding gene Chr5:114622152-114658435 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029941
protein coding gene Chr5:117385975-117425422 (-)
A/J MGP_AJ_G0029906
protein coding gene Chr5:112762597-112798949 (-)
AKR/J MGP_AKRJ_G0029844
protein coding gene Chr5:116337451-116375591 (-)
BALB/cJ MGP_BALBcJ_G0029917
protein coding gene Chr5:114128452-114165599 (-)
C3H/HeJ MGP_C3HHeJ_G0029637
protein coding gene Chr5:116847657-116886109 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030371
protein coding gene Chr5:121914972-121952753 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027599
protein coding gene Chr5:107585949-107622376 (-)
CAST/EiJ MGP_CASTEiJ_G0029045
protein coding gene Chr5:115785459-115821747 (-)
CBA/J MGP_CBAJ_G0029604
protein coding gene Chr5:126568453-126607787 (-)
DBA/2J MGP_DBA2J_G0029754
protein coding gene Chr5:112830818-112866883 (-)
FVB/NJ MGP_FVBNJ_G0029711
protein coding gene Chr5:111637235-111676333 (-)
LP/J MGP_LPJ_G0029843
protein coding gene Chr5:117952556-117989786 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029742
protein coding gene Chr5:130968806-131004970 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030412
protein coding gene Chr5:115815131-115852571 (-)
PWK/PhJ MGP_PWKPhJ_G0028759
protein coding gene Chr5:111481338-111519645 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028597
protein coding gene Chr5:113360360-113398894 (-)
WSB/EiJ MGP_WSBEiJ_G0029121
protein coding gene Chr5:116400235-116441567 (-)



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: HomoloGene, HGNC
  • 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
    90 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
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000014158 Ensembl Gene Model | MGI Sequence Detail 36270 C57BL/6J ±  kb
    transcript ENSMUST00000071968 Ensembl | MGI Sequence Detail 3228 Not Applicable  
    polypeptide ENSMUSP00000071859 Ensembl | MGI Sequence Detail 871 Not Applicable  
    For the selected sequence
    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
      IPR008347 Transient receptor potential channel, vanilloid 1-4
      IPR008348 Transient receptor potential channel, vanilloid 4
    Molecular
    Reagents
    less
    • All nucleic 35
      cDNA 30
      Primer pair 3
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1918936
    References
    more
    • Summaries
      All 162
      Developmental Gene Expression 12
      Diseases 1
      Gene Ontology 17
      Phenotypes 90
    • 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
    Citing These Resources
    Funding Information
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    last database update
    11/13/2018
    MGI 6.13
    The Jackson Laboratory