About   Help   FAQ
Cacna2d4 Gene Detail
Summary
  • Symbol
    Cacna2d4
  • Name
    calcium channel, voltage-dependent, alpha 2/delta subunit 4
  • Synonyms
    5730412N02Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442632
    NCBI Gene: 319734
  • Gene Overview
    MyGene.info: CACNA2D4
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:119236526-119352407 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 56.62 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    784 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2442632
protein coding gene Chr6:119236474-119352407 (.)
129S1/SvImJ MGP_129S1SvImJ_G0031191
protein coding gene Chr6:122018515-122140109 (+)
A/J MGP_AJ_G0031160
protein coding gene Chr6:117357041-117472148 (+)
AKR/J MGP_AKRJ_G0031091
protein coding gene Chr6:120503553-120621039 (+)
BALB/cJ MGP_BALBcJ_G0031171
protein coding gene Chr6:117126190-117244041 (+)
C3H/HeJ MGP_C3HHeJ_G0030537
protein coding gene Chr6:63679642-63801100 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031629
protein coding gene Chr6:125138385-125260568 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028790
protein coding gene Chr6:114274848-114338118 (+)
CAST/EiJ MGP_CASTEiJ_G0030278
protein coding gene Chr6:120928597-121058356 (+)
CBA/J MGP_CBAJ_G0030854
protein coding gene Chr6:130086755-130219364 (+)
DBA/2J MGP_DBA2J_G0031010
protein coding gene Chr6:116252759-116374580 (+)
FVB/NJ MGP_FVBNJ_G0030962
protein coding gene Chr6:115380669-115498233 (+)
LP/J MGP_LPJ_G0031089
protein coding gene Chr6:122033912-122155855 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030996
protein coding gene Chr6:134120763-134243365 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031658
protein coding gene Chr6:120546098-120664042 (+)
PWK/PhJ MGP_PWKPhJ_G0029993
protein coding gene Chr6:115261781-115380677 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029822
protein coding gene Chr6:119249192-119374767 (+)
WSB/EiJ MGP_WSBEiJ_G0030361
protein coding gene Chr6:120805780-120928085 (+)



Homology
more
  • Human Ortholog
    CACNA2D4, calcium voltage-gated channel auxiliary subunit alpha2delta 4
  • Vertebrate Orthologs
    11
  • Human Ortholog
    CACNA2D4, calcium voltage-gated channel auxiliary subunit alpha2delta 4
    Orthology source: HomoloGene, HGNC
  • Synonyms
    RCD4
  • Links
    NCBI Gene ID: 93589
    neXtProt AC: NX_Q7Z3S7
    UniProt: Q7Z3S7

  • Chr Location
    12p13.33; chr12:1791957-1922606 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human CACNA2D4 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
    8 phenotypes from 1 allele in 2 genetic backgrounds
    7 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 homozygous for a spontaneous mutation exhibit severe loss of retinal signaling associated with abnormal photoreceptor ribbon synapses and cone-rod dysfunction.
Gene Ontology
(GO)
Classifications
less
  • 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000041460 Ensembl Gene Model | MGI Sequence Detail 115882 C57BL/6J ±  kb
    transcript ENSMUST00000037434 Ensembl | MGI Sequence Detail 5803 Not Applicable  
    polypeptide ENSMUSP00000044660 Ensembl | MGI Sequence Detail 1144 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 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 25
      cDNA 24
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:3529346
    References
    more
    • Summaries
      All 33
      Developmental Gene Expression 2
      Gene Ontology 4
      Phenotypes 7
    • Earliest
      J:65548 Ruether K, et al., Abnormalities of the photoreceptor-bipolar cell synapse in a substrain of C57BL/10 mice. Invest Ophthalmol Vis Sci. 2000 Nov;41(12):4039-47
    • Latest
      J:265366 Kerov V, et al., alpha2delta-4 Is Required for the Molecular and Structural Organization of Rod and Cone Photoreceptor Synapses. J Neurosci. 2018 Jul 4;38(27):6145-6160

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    11/13/2018
    MGI 6.13
    The Jackson Laboratory