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Cabp2 Gene Detail
Summary
  • Symbol
    Cabp2
  • Name
    calcium binding protein 2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1352749
    NCBI Gene: 29866
  • Alliance
Location & Maps
more
  • Genetic Map
    Chromosome 19, 3.79 cM, cytoband A
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    CABP2, calcium binding protein 2
  • Vertebrate Orthologs
    11
  • Human Ortholog
    CABP2, calcium binding protein 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DFNB93
  • Links
    NCBI Gene ID: 51475
    neXtProt AC: NX_Q9NPB3
    UniProt: Q9NPB3

  • Chr Location
    11q13.2; chr11:67518947-67523428 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 8487
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;2 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: CABP2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Cabp2 mouse models; 1 with human CABP2 associations

Human Disease Mouse Models
      
IDs
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
    10 phenotypes from 2 alleles in 2 genetic backgrounds
    3 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 knockout affects calcium channels in cochlear inner hair cell synapses, resulting in hearing impairment. It also affects transmission of responses to light through the retinal circuits.
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 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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  • cDNA Data
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000034965 VEGA Gene Model | MGI Sequence Detail 5763 C57BL/6J ±  kb
transcript OTTMUST00000088903 VEGA | MGI Sequence Detail 911 Not Applicable  
polypeptide OTTMUSP00000048519 VEGA | MGI Sequence Detail 221 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    39 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 4
    cDNA 4

    Microarray probesets 4
References
more
  • Summaries
    All 25
    Diseases 1
    Gene Ontology 5
    Phenotypes 3
  • Earliest
    J:59389 Haeseleer F, et al., Five members of a novel Ca(2+)-binding protein (CABP) subfamily with similarity to calmodulin. J Biol Chem. 2000 Jan 14;275(2):1247-60
  • Latest
    J:255028 Picher MM, et al., Ca(2+)-binding protein 2 inhibits Ca(2+)-channel inactivation in mouse inner hair cells. Proc Natl Acad Sci U S A. 2017 Feb 28;114(9):E1717-E1726

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
06/12/2018
MGI 6.12
The Jackson Laboratory