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Car2 Gene Detail
Summary
  • Symbol
    Car2
  • Name
    carbonic anhydrase 2
  • Synonyms
    CAII, CA II, Car-2, Ltw-5, Lvtw-5
  • Feature Type
    protein coding gene
  • IDs
    MGI:88269
    NCBI Gene: 12349
  • Gene Overview
    MyGene.info: CA2
Location & Maps
more
  • Sequence Map
    Chr3:14886273-14900770 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      14498 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 3.23 cM
  • Mapping Data
    42 experiments
Homology
more
  • Human Ortholog
    CA2, carbonic anhydrase 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CA2, carbonic anhydrase 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CAC, CAII, CA-II, Car2, HEL-76, HEL-S-282
  • Links
    NCBI Gene ID: 760
    neXtProt AC: NX_P00918

  • Chr Location
    8q22; chr8:85463902-85481492 (+)  GRCh38.p2
Human Diseases
more
  • Diseases
    1 with Car2 mouse models; 1 with human CA2 associations

Human Disease Mouse Models
       Osteopetrosis, Autosomal Recessive 3; OPTB3   OMIM: 259730 View 1 model
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
    20 phenotypes from 2 alleles in 3 genetic backgrounds
    8 phenotypes from multigenic genotypes
    1 images
    27 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.
  • All Mutations and Alleles
    3
  • Chemically induced (ENU)
    1
  • Radiation induced
    1
  • Targeted
    1
  • Genomic Mutations
    1 involving Car2
  • Incidental Mutations
    Mutagenetix , APF
Homozygous mutant mice are growth retarded, display renal tubular acidosis, but mutants have not been recovered that display osteopetrosis as found in human CA-II deficiency.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    37
  • GO References
    12
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
    357
  • Tissues
    209
  • cDNA Data
    241
  • Literature Summary
    27
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000051087 VEGA Gene Model | MGI Sequence Detail 14498 C57BL/6J ±  kb
transcript OTTMUST00000129484 VEGA | MGI Sequence Detail 1788 Not Applicable  
polypeptide OTTMUSP00000069538 VEGA | MGI Sequence Detail 260 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    178 from dbSNP Build 142
  • RFLP
    3
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 251
    Genomic 5
    cDNA 242
    Primer pair 3
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-11922, MGD-MRK-11945, MGD-MRK-1760, MGD-MRK-1763, MGI:2139632
References
more
  • Summaries
    All 126
    Developmental Gene Expression 27
    Diseases 1
    Gene Ontology 12
    Phenotypes 27
  • Earliest
    J:5671 Davisson MT, et al., Genes on chromosome 3 of the mouse. J Hered. 1976 May-Jun;67(3):155-6
  • Latest
    J:216402 Hains DS, et al., Carbonic anhydrase 2 deficiency leads to increased pyelonephritis susceptibility. Am J Physiol Renal Physiol. 2014 Oct 1;307(7):F869-80
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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Send questions and comments to User Support. 		last database update
09/27/2016
MGI 6.05 		The Jackson Laboratory