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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
  • Gene Overview
    MyGene.info: CACNA1E
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr1:154390731-154884501 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      493771 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 66.14 cM
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    CACNA1E, calcium voltage-gated channel subunit alpha1 E
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CACNA1E, calcium voltage-gated channel subunit alpha1 E
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BII, CACH6, CACNL1A6, Cav2.3, gm139
  • Links
    NCBI Gene ID: 777
    neXtProt AC: NX_Q15878
    UniProt: Q15878

  • Chr Location
    1q25.3; chr1:181317712-181808084 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    19 phenotypes from 6 alleles in 6 genetic backgrounds
    35 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.
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
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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
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
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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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000049818 VEGA Gene Model | MGI Sequence Detail 493771 C57BL/6J ±  kb
    transcript OTTMUST00000126873 VEGA | MGI Sequence Detail 14921 Not Applicable  
    polypeptide OTTMUSP00000068577 VEGA | MGI Sequence Detail 2273 Not Applicable  
    For the selected sequence
    Polymorphisms
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    • SNPs within 2kb
      3611 from dbSNP Build 142
    • PCR
    • RFLP
    Protein
    Information
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    • UniProt
      6 Sequences
    • InterPro Domains
      IPR002048 EF-hand domain
      IPR005821 Ion transport domain
      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
    Molecular
    Reagents
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    • All nucleic 27
      Genomic 2
      cDNA 20
      Primer pair 5

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-33909
    References
    more
    • Summaries
      All 75
      Developmental Gene Expression 8
      Gene Ontology 23
      Phenotypes 35
    • 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:239715 Galazo MJ, et al., Corticothalamic Projection Neuron Development beyond Subtype Specification: Fog2 and Intersectional Controls Regulate Intraclass Neuronal Diversity. Neuron. 2016 Jul 06;91(1):90-106

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    07/31/2018
    MGI 6.12
    The Jackson Laboratory