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Cacna1b Gene Detail
Summary
  • Symbol
    Cacna1b
  • Name
    calcium channel, voltage-dependent, N type, alpha 1B subunit
  • Synonyms
    alpha(1B), Cav2.2, Cchn1a
  • Feature Type
    protein coding gene
  • IDs
    MGI:88296
    NCBI Gene: 12287
  • Gene Overview
    MyGene.info: CACNA1B
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr2:24603887-24763152 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      159266 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 16.58 cM, cytoband A2
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    CACNA1B, calcium voltage-gated channel subunit alpha1 B
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CACNA1B, calcium voltage-gated channel subunit alpha1 B
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BIII, CACNL1A5, CACNN, Cav2.2, DYT23
  • Links
    NCBI Gene ID: 774
    neXtProt AC: NX_Q00975
    UniProt: Q00975

  • Chr Location
    9q34.3; chr9:137877789-138124624 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human CACNA1B 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
    62 phenotypes from 6 alleles in 5 genetic backgrounds
    38 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 deficient in this gene exhibit defects in nociception, memory and learning. They also exhibit hyperactive and hyperaggressive behaviors as well as defects in the the sleep-wake cycle. Deficits in the sympathetic nervous system results in defects in circulatory regulation.
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 OTTMUSG00000012011 VEGA Gene Model | MGI Sequence Detail 159266 C57BL/6J ±  kb
    transcript OTTMUST00000029152 VEGA | MGI Sequence Detail 6987 Not Applicable  
    polypeptide OTTMUSP00000013174 VEGA | MGI Sequence Detail 2328 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      1149 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    • UniProt
      11 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
      IPR005447 Voltage-dependent calcium channel, N-type, alpha-1 subunit
      IPR027359 Voltage-dependent channel domain superfamily
      IPR031649 Voltage-dependent L-type calcium channel, IQ-associated domain
    Molecular
    Reagents
    less
    • All nucleic 22
      Genomic 2
      cDNA 14
      Primer pair 5
      Other 1

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGD-MRK-1803, MGI:2139282, MGI:2139293, MGI:2139419
    References
    more
    • Summaries
      All 94
      Developmental Gene Expression 13
      Gene Ontology 13
      Phenotypes 38
    • Earliest
      J:16589 Coppola T, et al., Molecular cloning of a murine N-type calcium channel alpha 1 subunit. Evidence for isoforms, brain distribution, and chromosomal localization. FEBS Lett. 1994 Jan 24;338(1):1-5
    • Latest
      J:255284 Allen SE, et al., Cell-Specific RNA Binding Protein Rbfox2 Regulates CaV2.2 mRNA Exon Composition and CaV2.2 Current Size. eNeuro. 2017 Sep-Oct;4(5)

    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
    09/11/2018
    MGI 6.12
    The Jackson Laboratory