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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, VR-OAC, VROAC
  • Feature Type
    protein coding gene
  • IDs
    MGI:1926945
    NCBI Gene: 63873
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:114760213-114796482 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 55.99 cM, cytoband F
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1195 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 Chr5:114760213-114796497 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TRPV4, transient receptor potential cation channel subfamily V member 4
  • 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; chr12:109783087-109833406 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Trpv4 mouse models; 8 with human TRPV4 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
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
less
  • Phenotype Summary
    52 phenotypes from 6 alleles in 7 genetic backgrounds
    2 images
    220 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.
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
less
  • All GO Annotations
    143
  • GO References
    20
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1149
  • Tissues
    138
  • cDNA Data
    28
  • Literature Summary
    18
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000014158 Ensembl Gene Model | MGI Sequence Detail 36270 C57BL/6J ±  kb
    transcript ENSMUST00000112225 Ensembl | MGI Sequence Detail 3226 Not Applicable  
    polypeptide ENSMUSP00000107844 Ensembl | MGI Sequence Detail 871 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 39
      cDNA 30
      Primer pair 6
      Other 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1918936
    References
    more
    • Summaries
      All 316
      Developmental Gene Expression 18
      Diseases 1
      Gene Ontology 20
      Phenotypes 220
    • 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:358087 Schaller L, et al., TRPV4 Mediates Alveolar Epithelial Barrier Integrity and Induces ADAM10-Driven E-Cadherin Shedding. Cells. 2024 Oct 17;13(20)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory