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Cav3 Gene Detail
Summary
  • Symbol
    Cav3
  • Name
    caveolin 3
  • Synonyms
    Cav-3, M-caveolin
  • Feature Type
    protein coding gene
  • IDs
    MGI:107570
    NCBI Gene: 12391
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:112436466-112449833 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 52.26 cM, cytoband E1
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    570 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107570
 protein coding gene Chr6:112436466-112449833 (+)
129S1/SvImJ MGP_129S1SvImJ_G0031107
 protein coding gene Chr6:114904348-114917602 (+)
A/J MGP_AJ_G0031076
 protein coding gene Chr6:110522358-110535635 (+)
AKR/J MGP_AKRJ_G0031007
 protein coding gene Chr6:113498247-113511691 (+)
BALB/cJ MGP_BALBcJ_G0031087
 protein coding gene Chr6:110477420-110490808 (+)
C3H/HeJ MGP_C3HHeJ_G0030621
 protein coding gene Chr6:70799601-70812964 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031546
 protein coding gene Chr6:117919181-117932964 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028710
 protein coding gene Chr6:107552343-107565604 (+)
CAST/EiJ MGP_CASTEiJ_G0030194
 protein coding gene Chr6:113933478-113946906 (+)
CBA/J MGP_CBAJ_G0030773
 protein coding gene Chr6:122551520-122567680 (+)
DBA/2J MGP_DBA2J_G0030926
 protein coding gene Chr6:109628188-109641469 (+)
FVB/NJ MGP_FVBNJ_G0030880
 protein coding gene Chr6:108612649-108625952 (+)
LP/J MGP_LPJ_G0031006
 protein coding gene Chr6:114962447-114975779 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030914
 protein coding gene Chr6:126864723-126878072 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031573
 protein coding gene Chr6:113516428-113529822 (+)
PWK/PhJ MGP_PWKPhJ_G0029910
 protein coding gene Chr6:108564924-108578300 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029738
 protein coding gene Chr6:112314608-112327884 (+)
WSB/EiJ MGP_WSBEiJ_G0030278
 protein coding gene Chr6:113877689-113891039 (+)



Homology
more
  • Human Ortholog
    CAV3, caveolin 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CAV3, caveolin 3
  • Synonyms
    LGMD1C, LQT9, MPDT, RMD2, VIP-21, VIP21
  • Links
    NCBI Gene ID: 859
    neXtProt AC: NX_P56539
    UniProt: P56539

  • Chr Location
    3p25.3; chr3:8733802-8841808 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Cav3 mouse models; 6 with human CAV3 associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    43 phenotypes from 4 alleles in 5 genetic backgrounds
    18 phenotypes from multigenic genotypes
    5 images
    53 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 targeted mutant animals display mild myopathic changes in muscle.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    161
  • GO References
    42
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
    843
  • Tissues
    54
  • cDNA Data
    15
  • Literature Summary
    21
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12391 NCBI Gene Model | MGI Sequence Detail 13368 C57BL/6J ±  kb
    transcript NM_007617 RefSeq | MGI Sequence Detail 1172 ZRU/MplStud  
    polypeptide P51637 UniProt | EBI | MGI Sequence Detail 151 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 21
      Genomic 1
      cDNA 16
      Primer pair 3
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-36142, MGI:2141400
    References
    more
    • Summaries
      All 153
      Developmental Gene Expression 21
      Diseases 4
      Gene Ontology 42
      Phenotypes 53
    • Earliest
      J:20873 Tang ZL, et al., The primary sequence of murine caveolin reveals a conserved consensus site for phosphorylation by protein kinase C. Gene. 1994 Sep 30;147(2):299-300
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory