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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
  • Alliance
  • Transcription Start Sites
    5 TSS
  • Candidate for QTL
    3 QTL
Location &
Maps
more
  • Sequence Map
    Chr9:107276948-107406545 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 9, 58.02 cM
  • Mapping Data
    18 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1173 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1929813
protein coding gene Chr9:107276811-107406545 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035252
protein coding gene Chr9:109263391-109401314 (+)
A/J MGP_AJ_G0035231
protein coding gene Chr9:105294814-105426296 (+)
AKR/J MGP_AKRJ_G0035163
protein coding gene Chr9:107918996-108058498 (+)
BALB/cJ MGP_BALBcJ_G0035225
protein coding gene Chr9:104964470-105095040 (+)
C3H/HeJ MGP_C3HHeJ_G0034935
protein coding gene Chr9:108319716-108455410 (+)
C57BL/6NJ MGP_C57BL6NJ_G0035745
protein coding gene Chr9:112264292-112396342 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032643
protein coding gene Chr9:102724308-102855075 (+)
CAST/EiJ MGP_CASTEiJ_G0034246
protein coding gene Chr9:108254462-108390363 (+)
CBA/J MGP_CBAJ_G0034903
protein coding gene Chr9:116236092-116369402 (+)
DBA/2J MGP_DBA2J_G0035064
protein coding gene Chr9:104749361-104879395 (+)
FVB/NJ MGP_FVBNJ_G0035012
protein coding gene Chr9:103511759-103643378 (+)
LP/J MGP_LPJ_G0035140
protein coding gene Chr9:109471067-109609328 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035051
protein coding gene Chr9:117827585-117969242 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0035766
protein coding gene Chr9:108192676-108325784 (+)
PWK/PhJ MGP_PWKPhJ_G0033953
protein coding gene Chr9:105066134-105198897 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033788
protein coding gene Chr9:108254618-108388250 (+)
WSB/EiJ MGP_WSBEiJ_G0034367
protein coding gene Chr9:108076454-108212098 (+)



Homology
more
  • Human Ortholog
    CACNA2D2, calcium voltage-gated channel auxiliary subunit alpha2delta 2
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CACNA2D2, calcium voltage-gated channel auxiliary subunit alpha2delta 2
  • Synonyms
    CACNA2D, CASVDD
  • Links
    NCBI Gene ID: 9254
    neXtProt AC: NX_Q9NY47
    UniProt: Q9NY47

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

Human Diseases
more
  • Diseases
    1 with Cacna2d2 mouse models

Human Disease Mouse Models
      
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
    73 phenotypes from 8 alleles in 10 genetic backgrounds
    44 phenotypes from multigenic genotypes
    1 images
    35 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.
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 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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 56808 NCBI Gene Model | MGI Sequence Detail 129598 C57BL/6J ±  kb
    transcript NM_001174047 RefSeq | MGI Sequence Detail 5539 ZRU/MplStud  
    polypeptide Q6PHS9 UniProt | EBI | MGI Sequence Detail 1154 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000004943 voltage-dependent calcium channel subunit alpha-2/delta-2
    • 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 53
      Genomic 7
      cDNA 41
      Primer pair 5

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-14978, MGD-MRK-8913, MGI:94935
    References
    more
    • Summaries
      All 89
      Developmental Gene Expression 19
      Diseases 2
      Gene Ontology 7
      Phenotypes 35
    • Earliest
      J:116 Snell GD, Ducky, a new second chromosome mutation in the mouse. J Hered. 1955;46(1):27-29
    • Latest
      J:343070 Sun T, et al., Dbh(+) catecholaminergic cardiomyocytes contribute to the structure and function of the cardiac conduction system in murine heart. Nat Commun. 2023 Nov 28;14(1):7801

    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)
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    Funding Information
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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory