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Cacna2d1 Gene Detail
Summary
  • Symbol
    Cacna2d1
  • Name
    calcium channel, voltage-dependent, alpha2/delta subunit 1
  • Synonyms
    Cacna2, Ca(v)alpha2delta1, Cchl2a
  • Feature Type
    protein coding gene
  • IDs
    MGI:88295
    NCBI Gene: 12293
  • Gene Overview
    MyGene.info: CACNA2D1
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr5:15934788-16374504 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      439717 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 6.56 cM
  • Mapping Data
    14 experiments
Homology
more
  • Human Ortholog
    CACNA2D1, calcium voltage-gated channel auxiliary subunit alpha2delta 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CACNA2D1, calcium voltage-gated channel auxiliary subunit alpha2delta 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CACNA2, CACNL2A, CCHL2A, LINC01112, lncRNA-N3
  • Links
    NCBI Gene ID: 781
    neXtProt AC: NX_P54289
    UniProt: P54289

  • Chr Location
    7q21.11; chr7:81946444-82443921 (-)  GRCh38.p7
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 2 alleles in 2 genetic backgrounds
    16 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.
Mice with a point mutation allele exhibit abnormal CNS synaptic transmission and decreased response to pregabalin.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    43
  • GO References
    8
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
less
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
    186
  • Tissues
    49
  • cDNA Data
    24
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000055290 VEGA Gene Model | MGI Sequence Detail 439717 C57BL/6J ±  kb
    transcript OTTMUST00000136877 VEGA | MGI Sequence Detail 3933 Not Applicable  
    polypeptide OTTMUSP00000072169 VEGA | MGI Sequence Detail 1103 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      2695 from dbSNP Build 142
    • RFLP
      3
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000004942 voltage-dependent calcium channel subunit alpha-2/delta-1
      (term hierarchy)
    • 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 35
      cDNA 30
      Primer pair 5

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-1801
    References
    more
    • Summaries
      All 72
      Developmental Gene Expression 11
      Gene Ontology 8
      Phenotypes 16
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:258963 Faria LC, et al., Epileptiform activity and behavioral arrests in mice overexpressing the calcium channel subunit alpha2delta-1. Neurobiol Dis. 2017 Jun;102:70-80
    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
    10/16/2018
    MGI 6.12     		The Jackson Laboratory