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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
  • Alliance
    gene page
  • Transcription Start Sites
    15 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:16139786-16579502 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 6.56 cM
  • Mapping Data
    14 experiments
Strain
Comparison
more
  • SNPs within 2kb
    13363 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88295
 protein coding gene Chr5:16139390-16579509 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029298
 protein coding gene Chr5:13266376-13729560 (+)
A/J MGP_AJ_G0029262
 protein coding gene Chr5:12863089-13305405 (+)
AKR/J MGP_AKRJ_G0029212
 protein coding gene Chr5:13488087-13927622 (+)
BALB/cJ MGP_BALBcJ_G0029278
 protein coding gene Chr5:13301951-13743844 (+)
C3H/HeJ MGP_C3HHeJ_G0028999
 protein coding gene Chr5:13425667-13894266 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029730
 protein coding gene Chr5:14536009-14996934 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026972
 protein coding gene Chr5:11244004-11667050 (+)
CAST/EiJ MGP_CASTEiJ_G0028411
 protein coding gene Chr5:12723812-13204816 (+)
CBA/J MGP_CBAJ_G0028961
 protein coding gene Chr5:14402300-14897506 (+)
DBA/2J MGP_DBA2J_G0029114
 protein coding gene Chr5:13169607-13604515 (+)
FVB/NJ MGP_FVBNJ_G0029076
 protein coding gene Chr5:12605166-13039260 (+)
LP/J MGP_LPJ_G0029202
 protein coding gene Chr5:13682709-14151094 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029104
 protein coding gene Chr5:15330660-15856432 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029762
 protein coding gene Chr5:13071064-13521867 (+)
PWK/PhJ MGP_PWKPhJ_G0028133
 protein coding gene Chr5:12229033-12675124 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027966
 protein coding gene Chr5:12420820-12883934 (+)
WSB/EiJ MGP_WSBEiJ_G0028491
 protein coding gene Chr5:13065513-13534973 (+)



Homology
more
  • Human Ortholog
    CACNA2D1, calcium voltage-gated channel auxiliary subunit alpha2delta 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CACNA2D1, calcium voltage-gated channel auxiliary subunit alpha2delta 1
  • Synonyms
    CACNA2, CACNL2A, CCHL2A, DEE110, LINC01112, lncRNA-N3
  • Links
    NCBI Gene ID: 781
    neXtProt AC: NX_P54289
    UniProt: P54289

  • Chr Location
    7q21.11; chr7:81946444-82443956 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human CACNA2D1 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    21 phenotypes from 3 alleles in 3 genetic backgrounds
    41 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.
Mice with a point mutation allele exhibit abnormal CNS synaptic transmission and decreased response to pregabalin.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    51
  • GO References
    12
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    905
  • Tissues
    56
  • cDNA Data
    25
  • Literature Summary
    17
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040118 Ensembl Gene Model | MGI Sequence Detail 439717 C57BL/6J ±  kb
    transcript ENSMUST00000039370 Ensembl | MGI Sequence Detail 3933 Not Applicable  
    polypeptide ENSMUSP00000049457 Ensembl | MGI Sequence Detail 1103 Not Applicable  
    For the selected sequence
    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
      IPR051173 Voltage-dependent calcium channel subunit alpha-2/delta
      IPR036465 von Willebrand factor A-like domain superfamily
      IPR002035 von Willebrand factor, type A
      IPR013608 VWA N-terminal
    • GlyGen
      O08532 15 sites, 19 N-linked glycans (11 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 38
      cDNA 31
      Primer pair 7

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-1801
    References
    more
    • Summaries
      All 110
      Developmental Gene Expression 17
      Gene Ontology 12
      Phenotypes 41
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:354123 Huang Y, et al., Constitutive KCC2 Cell- and Synapse-Specifically Regulates NMDA Receptor Activity in the Spinal Cord. J Neurosci. 2024 Jan 24;44(4)
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory