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Trpv5 Gene Detail
Summary
  • Symbol
    Trpv5
  • Name
    transient receptor potential cation channel, subfamily V, member 5
  • Synonyms
    CaT2, ECaC1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2429764
    NCBI Gene: 194352
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:41629107-41657703 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 19.83 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    779 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2429764
 protein coding gene Chr6:41628595-41658158 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030632
 protein coding gene Chr6:40169147-40197753 (-)
A/J MGP_AJ_G0030605
 protein coding gene Chr6:38421484-38450047 (-)
AKR/J MGP_AKRJ_G0030530
 protein coding gene Chr6:39666295-39694856 (-)
BALB/cJ MGP_BALBcJ_G0030615
 protein coding gene Chr6:38626621-38655466 (-)
C3H/HeJ MGP_C3HHeJ_G0030328
 protein coding gene Chr6:39689334-39718412 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031069
 protein coding gene Chr6:41189359-41218859 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028276
 protein coding gene Chr6:36194410-36224094 (-)
CAST/EiJ MGP_CASTEiJ_G0029732
 protein coding gene Chr6:39496030-39550412 (-)
CBA/J MGP_CBAJ_G0030304
 protein coding gene Chr6:42889496-42918077 (-)
DBA/2J MGP_DBA2J_G0030448
 protein coding gene Chr6:38250195-38278657 (-)
FVB/NJ MGP_FVBNJ_G0030404
 protein coding gene Chr6:37971726-38000699 (-)
LP/J MGP_LPJ_G0030536
 protein coding gene Chr6:40170673-40200200 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030438
 protein coding gene Chr6:45121209-45150388 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031099
 protein coding gene Chr6:39636792-39689375 (-)
PWK/PhJ MGP_PWKPhJ_G0029444
 protein coding gene Chr6:37871471-37923332 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029281
 protein coding gene Chr6:39251277-39280875 (-)
WSB/EiJ MGP_WSBEiJ_G0029808
 protein coding gene Chr6:39549481-39602106 (-)



Homology
more
  • Human Ortholog
    TRPV5, transient receptor potential cation channel subfamily V member 5
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TRPV5, transient receptor potential cation channel subfamily V member 5
  • Synonyms
    CAT2, ECAC1, OTRPC3
  • Links
    NCBI Gene ID: 56302
    neXtProt AC: NX_Q9NQA5
    UniProt: Q9NQA5

  • Chr Location
    7q34; chr7:142908101-142933746 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    28 phenotypes from 3 alleles in 3 genetic backgrounds
    15 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.
Homozygous mutant mice exhibit increased calcium excretion and reduced bone thickenss.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    33
  • GO References
    12
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
    787
  • Tissues
    45
  • cDNA Data
    6
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000036899 Ensembl Gene Model | MGI Sequence Detail 28597 C57BL/6J ±  kb
    transcript ENSMUST00000031901 Ensembl | MGI Sequence Detail 3243 Not Applicable  
    polypeptide ENSMUSP00000031901 Ensembl | MGI Sequence Detail 723 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000000776 transient receptor potential cation channel subfamily V member 5
      (term hierarchy)
    • InterPro Domains
      IPR002110 Ankyrin repeat
      IPR036770 Ankyrin repeat-containing domain superfamily
      IPR005821 Ion transport domain
      IPR024862 Transient receptor potential cation channel subfamily V
      IPR008346 Transient receptor potential cation channel subfamily V member 5
      IPR008344 Transient receptor potential cation channel subfamily V member 5/6
    Molecular
    Reagents
    less
    • All nucleic 10
      cDNA 6
      Primer pair 4

      Microarray probesets 1
    References
    more
    • Summaries
      All 60
      Developmental Gene Expression 11
      Gene Ontology 12
      Phenotypes 15
    • Earliest
      J:78617 Nilius B, et al., Fast and slow inactivation kinetics of the Ca2+ channels ECaC1 and ECaC2 (TRPV5 and TRPV6). Role of the intracellular loop located between transmembrane segments 2 and 3. J Biol Chem. 2002 Aug 23;277(34):30852-8
    • Latest
      J:333283 Guan N, et al., Disruption of mitochondrial complex III in cap mesenchyme but not in ureteric progenitors results in defective nephrogenesis associated with amino acid deficiency. Kidney Int. 2022 Jul;102(1):108-120
    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)
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    Funding Information
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    11/12/2024
    MGI 6.24     		The Jackson Laboratory