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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
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
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
  • Synonyms
    CACNA2, CACNL2A, CCHL2A, LINC01112, lncRNA-N3
  • Links
    NCBI Gene ID: 781
    neXtProt AC: NX_P54289

  • Chr Location
    7q21-q22; chr7:81946444-82443806 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 2 alleles in 2 genetic backgrounds
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Chemically induced (other)
    2
  • Gene trapped
    1
  • Spontaneous
    1
  • Targeted
    4
  • Genomic Mutations
    3 involving Cacna2d1
  • Incidental Mutations
Mice with a point mutation allele exhibit abnormal CNS synaptic transmission and decreased response to pregabalin.
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 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
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  • SNPs within 2kb
    2695 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000004942 voltage-dependent calcium channel subunit alpha-2/delta-1
  • InterPro Domains
    IPR004010 Double Cache domain 2
    IPR013680 Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region
    IPR002035 von Willebrand factor, type A
    IPR013608 VWA N-terminal
Molecular
Reagents
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  • All nucleic 33
    cDNA 28
    Primer pair 5

    Microarray probesets 7
Other
Accession IDs
less
MGD-MRK-1801
References
more
  • Summaries
    All 53
    Developmental Gene Expression 8
    Gene Ontology 6
    Phenotypes 12
  • Earliest
    J:1673 Chin H, et al., The gene for the dihydropyridine-sensitive calcium channel alpha 2 subunit (CCHL2A) maps to the proximal region of mouse chromosome 5. Genomics. 1992 Aug;13(4):1325-7
  • Latest
    J:206966 Etemad S, et al., Differential neuronal targeting of a new and two known calcium channel beta4 subunit splice variants correlates with their regulation of gene expression. J Neurosci. 2014 Jan 22;34(4):1446-61

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
04/26/2016
MGI 6.03
The Jackson Laboratory