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Car4 Gene Detail
Summary
  • Symbol
    Car4
  • Name
    carbonic anhydrase 4
  • Synonyms
    CA IV
  • Feature Type
    protein coding gene
  • IDs
    MGI:1096574
    NCBI Gene: 12351
  • Gene Overview
    MyGene.info: CA4
Location & Maps
more
  • Sequence Map
    Chr11:84957786-84966044 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      8259 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 51.34 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    CA4, carbonic anhydrase 4
  • Vertebrate Orthologs
    12
  • Human Ortholog
    CA4, carbonic anhydrase 4
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CAIV, Car4, RP17
  • Links
    NCBI Gene ID: 762
    neXtProt AC: NX_P22748

  • Chr Location
    17q23; chr17:60149941-60159546 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human CA4 associations

Human Disease Mouse Models
       Retinitis Pigmentosa 17; RP17   OMIM: 600852
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 2 alleles in 2 genetic backgrounds
    4 phenotypes from multigenic genotypes
    25 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
    16
  • Chemically induced (other)
    1
  • Gene trapped
    9
  • Targeted
    6
  • Genomic Mutations
    2 involving Car4
  • Incidental Mutations
Homozygous null mice are produced in lower than expected numbers, with females preferentially lost in the fetal or early postnatal period. Surviving homozygotes are healthy and fertile when crossed with wild-type partners; however, homozygous intercrosses yield small litters and pups do not survive.
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000001034 VEGA Gene Model | MGI Sequence Detail 8259 C57BL/6J ±  kb
transcript OTTMUST00000002065 VEGA | MGI Sequence Detail 1256 Not Applicable  
polypeptide OTTMUSP00000001000 VEGA | MGI Sequence Detail 305 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    51 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 87
    Genomic 7
    cDNA 77
    Primer pair 3

    Microarray probesets 4
Other
Accession IDs
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MGI:2144530
References
more
  • Summaries
    All 58
    Developmental Gene Expression 12
    Gene Ontology 7
    Phenotypes 25
  • Earliest
    J:18790 Brion LP, et al., Up-regulation of carbonic anhydrase isozyme IV in CNS myelin of mice genetically deficient in carbonic anhydrase II. J Neurochem. 1994 Jul;63(1):360-6
  • Latest
    J:228563 Koscielny G, et al., The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Nucleic Acids Res. 2014 Jan;42(Database issue):D802-9

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
07/12/2016
MGI 6.04
The Jackson Laboratory