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Cacna2d2 Gene Detail
Summary
  • Symbol
    Cacna2d2
  • Name
    calcium channel, voltage-dependent, alpha 2/delta subunit 2
  • Synonyms
    a2d2, nmf299
  • Feature Type
    protein coding gene
  • IDs
    MGI:1929813
    NCBI Gene: 56808
  • Gene Overview
    MyGene.info: CACNA2D2
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr9:107399612-107529343 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      129732 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 58.02 cM
  • Mapping Data
    18 experiments
Homology
more
  • Human Ortholog
    CACNA2D2, calcium voltage-gated channel auxiliary subunit alpha2delta 2
  • Vertebrate Orthologs
    11
  • Human Ortholog
    CACNA2D2, calcium voltage-gated channel auxiliary subunit alpha2delta 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CACNA2D
  • Links
    NCBI Gene ID: 9254
    neXtProt AC: NX_Q9NY47
    UniProt: Q9NY47

  • Chr Location
    3p21.31; chr3:50362613-50504244 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Cacna2d2 mouse models

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    83 phenotypes from 8 alleles in 12 genetic backgrounds
    1 images
    28 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygotes for different mutant alleles show variable movement abnormalities including waddling, reeling or very slow gait, ataxia, and mild spike-wave seizures. While gross CNS abnormalities and demyelination are present in some mutant lines, they are not observed in others.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000036844 VEGA Gene Model | MGI Sequence Detail 129732 C57BL/6J ±  kb
    transcript OTTMUST00000094617 VEGA | MGI Sequence Detail 3474 Not Applicable  
    polypeptide OTTMUSP00000052660 VEGA | MGI Sequence Detail 1157 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      1174 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • InterPro Domains
      IPR013680 Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region
      IPR036465 von Willebrand factor A-like domain superfamily
      IPR002035 von Willebrand factor, type A
      IPR013608 VWA N-terminal
    Molecular
    Reagents
    less
    • All nucleic 49
      Genomic 7
      cDNA 40
      Primer pair 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-14978, MGD-MRK-8913, MGI:94935
    References
    more
    • Summaries
      All 74
      Developmental Gene Expression 11
      Diseases 2
      Gene Ontology 7
      Phenotypes 28
    • Earliest
      J:116 Snell GD, Ducky, a new second chromosome mutation in the mouse. J Hered. 1955;46:27-29
    • Latest
      J:236446 Fell B, et al., alpha2delta2 Controls the Function and Trans-Synaptic Coupling of Cav1.3 Channels in Mouse Inner Hair Cells and Is Essential for Normal Hearing. J Neurosci. 2016 Oct 26;36(43):11024-11036

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    09/11/2018
    MGI 6.12
    The Jackson Laboratory