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Cacna1e Gene Detail
Summary
  • Symbol
    Cacna1e
  • Name
    calcium channel, voltage-dependent, R type, alpha 1E subunit
  • Synonyms
    alpha1E, Cav2.3, Cchra1
  • Feature Type
    protein coding gene
  • IDs
    MGI:106217
    NCBI Gene: 12290
  • Alliance
    gene page
  • Transcription Start Sites
    23 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:154266477-154760247 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 66.14 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    11694 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_106217
 protein coding gene Chr1:154266477-154760374 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016608
 protein coding gene Chr1:159278941-159778858 (-)
A/J MGP_AJ_G0016589
 protein coding gene Chr1:152856860-153369783 (-)
AKR/J MGP_AKRJ_G0016555
 protein coding gene Chr1:157583987-158090783 (-)
BALB/cJ MGP_BALBcJ_G0016550
 protein coding gene Chr1:153395266-153885327 (-)
C3H/HeJ MGP_C3HHeJ_G0016374
 protein coding gene Chr1:157706358-158212725 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017011
 protein coding gene Chr1:164768234-165282160 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014720
 protein coding gene Chr1:145120361-145599298 (-)
CAST/EiJ MGP_CASTEiJ_G0015954
 protein coding gene Chr1:157195133-157724555 (-)
CBA/J MGP_CBAJ_G0016349
 protein coding gene Chr1:170579736-171135077 (-)
DBA/2J MGP_DBA2J_G0016455
 protein coding gene Chr1:151854710-152345460 (-)
FVB/NJ MGP_FVBNJ_G0016453
 protein coding gene Chr1:150323059-150810131 (-)
LP/J MGP_LPJ_G0016526
 protein coding gene Chr1:160405783-160924198 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016478
 protein coding gene Chr1:178201956-178723618 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017047
 protein coding gene Chr1:157377188-157881916 (-)
PWK/PhJ MGP_PWKPhJ_G0015740
 protein coding gene Chr1:150905542-151418111 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015527
 protein coding gene Chr1:156126694-156651800 (-)
WSB/EiJ MGP_WSBEiJ_G0016016
 protein coding gene Chr1:157444539-157962596 (-)



Homology
more
  • Human Ortholog
    CACNA1E, calcium voltage-gated channel subunit alpha1 E
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CACNA1E, calcium voltage-gated channel subunit alpha1 E
  • Synonyms
    BII, CACH6, CACNL1A6, Cav2.3, DEE69, EIEE69, gm139
  • Links
    NCBI Gene ID: 777
    neXtProt AC: NX_Q15878
    UniProt: Q15878

  • Chr Location
    1q25.3; chr1:181317690-181813262 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human CACNA1E associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    19 phenotypes from 6 alleles in 6 genetic backgrounds
    51 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 targeted null mutations exhibit altered R-type Ca2+ channels, increased timidity and body weight, impaired glucose tolerance, reduced locomotor activity, and lack of the cocaine stimulation of locomotor response.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    49
  • GO References
    24
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
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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
    843
  • Tissues
    31
  • cDNA Data
    15
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000004110 Ensembl Gene Model | MGI Sequence Detail 493771 C57BL/6J ±  kb
    transcript ENSMUST00000187541 Ensembl | MGI Sequence Detail 14921 Not Applicable  
    polypeptide ENSMUSP00000140937 Ensembl | MGI Sequence Detail 2273 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000002119 voltage-dependent R-type calcium channel subunit alpha-1E
      (term hierarchy)
    • InterPro Domains
      IPR002048 EF-hand domain
      IPR005821 Ion transport domain
      IPR050599 Voltage-dependent calcium channel alpha-1 subunit
      IPR002077 Voltage-dependent calcium channel, alpha-1 subunit
      IPR014873 Voltage-dependent calcium channel, alpha-1 subunit, IQ domain
      IPR005449 Voltage-dependent calcium channel, R-type, alpha-1 subunit
      IPR027359 Voltage-dependent channel domain superfamily
      IPR031649 Voltage-dependent L-type calcium channel, IQ-associated domain
    • GlyGen
      Q61290 5 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 28
      Genomic 2
      cDNA 20
      Primer pair 6

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-33909
    References
    more
    • Summaries
      All 95
      Developmental Gene Expression 11
      Gene Ontology 24
      Phenotypes 51
    • Earliest
      J:19970 Williams ME, et al., Structure and functional characterization of neuronal alpha 1E calcium channel subtypes. J Biol Chem. 1994 Sep 2;269(35):22347-57
    • Latest
      J:353043 Chin M, et al., The intracellular C-terminus confers compartment-specific targeting of voltage-gated calcium channels. Cell Rep. 2024 Jul 23;43(7):114428
    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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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory