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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:24493899-24653164 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 16.58 cM, cytoband A2
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4402 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88296
 protein coding gene Chr2:24493872-24653210 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025411
 protein coding gene Chr2:22422819-22593091 (-)
A/J MGP_AJ_G0025388
 protein coding gene Chr2:21552264-21715505 (-)
AKR/J MGP_AKRJ_G0025358
 protein coding gene Chr2:22292269-22460958 (-)
BALB/cJ MGP_BALBcJ_G0025384
 protein coding gene Chr2:21668618-21832820 (-)
C3H/HeJ MGP_C3HHeJ_G0025145
 protein coding gene Chr2:22226419-22384095 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025828
 protein coding gene Chr2:23147519-23316279 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023239
 protein coding gene Chr2:20477243-20649219 (-)
CAST/EiJ MGP_CASTEiJ_G0024608
 protein coding gene Chr2:22084970-22259787 (-)
CBA/J MGP_CBAJ_G0025123
 protein coding gene Chr2:23942586-24106711 (-)
DBA/2J MGP_DBA2J_G0025256
 protein coding gene Chr2:21412929-21575191 (-)
FVB/NJ MGP_FVBNJ_G0025218
 protein coding gene Chr2:21151964-21318271 (-)
LP/J MGP_LPJ_G0025342
 protein coding gene Chr2:22365272-22532187 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025249
 protein coding gene Chr2:24182834-24347225 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025887
 protein coding gene Chr2:22224603-22392581 (-)
PWK/PhJ MGP_PWKPhJ_G0024356
 protein coding gene Chr2:21203432-21371930 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024156
 protein coding gene Chr2:22351144-22528802 (-)
WSB/EiJ MGP_WSBEiJ_G0024677
 protein coding gene Chr2:22304940-22469062 (-)



Homology
more
  • Human Ortholog
    CACNA1B, calcium voltage-gated channel subunit alpha1 B
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CACNA1B, calcium voltage-gated channel subunit alpha1 B
  • Synonyms
    BIII, CACNL1A5, CACNN, Cav2.2, DYT23, NEDNEH
  • Links
    NCBI Gene ID: 774
    neXtProt AC: NX_Q00975
    UniProt: Q00975

  • Chr Location
    9q34.3; chr9:137877782-138124624 (+)  GRCh38
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
    55 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 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
    50
  • GO References
    14
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
    805
  • Tissues
    56
  • cDNA Data
    13
  • Literature Summary
    18
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000004113 Ensembl Gene Model | MGI Sequence Detail 159266 C57BL/6J ±  kb
    transcript ENSMUST00000114447 Ensembl | MGI Sequence Detail 6987 Not Applicable  
    polypeptide ENSMUSP00000110090 Ensembl | MGI Sequence Detail 2328 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      11 Sequences
    • Protein Ontology
      PR:000002117 voltage-dependent N-type calcium channel subunit alpha-1B
      (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
      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
    • GlyGen
      O55017 6 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 23
      Genomic 2
      cDNA 14
      Primer pair 6
      Other 1

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGD-MRK-1803, MGI:2139282, MGI:2139293, MGI:2139419
    References
    more
    • Summaries
      All 119
      Developmental Gene Expression 18
      Gene Ontology 14
      Phenotypes 55
    • 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: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
    11/05/2024
    MGI 6.24     		The Jackson Laboratory