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Cacnb4 Gene Detail
Summary
  • Symbol
    Cacnb4
  • Name
    calcium channel, voltage-dependent, beta 4 subunit
  • Synonyms
    3110038O15Rik, Cchb4
  • Feature Type
    protein coding gene
  • IDs
    MGI:103301
    NCBI Gene: 12298
  • Alliance
    gene page
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:52318332-52566816 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 29.98 cM
  • Mapping Data
    11 experiments
Strain
Comparison
more
  • SNPs within 2kb
    7099 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_103301
 protein coding gene Chr2:52318332-52566843 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025735
 protein coding gene Chr2:51761292-52036263 (-)
A/J MGP_AJ_G0025711
 protein coding gene Chr2:49761453-50014634 (-)
AKR/J MGP_AKRJ_G0025681
 protein coding gene Chr2:51195541-51453826 (-)
BALB/cJ MGP_BALBcJ_G0025706
 protein coding gene Chr2:49860162-50120283 (-)
C3H/HeJ MGP_C3HHeJ_G0025467
 protein coding gene Chr2:51192210-51459125 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026152
 protein coding gene Chr2:53287503-53564478 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023558
 protein coding gene Chr2:47743494-47991668 (-)
CAST/EiJ MGP_CASTEiJ_G0024932
 protein coding gene Chr2:51303099-51575233 (-)
CBA/J MGP_CBAJ_G0025447
 protein coding gene Chr2:55302686-55595479 (-)
DBA/2J MGP_DBA2J_G0025578
 protein coding gene Chr2:49413938-49663077 (-)
FVB/NJ MGP_FVBNJ_G0025540
 protein coding gene Chr2:49100387-49350870 (-)
LP/J MGP_LPJ_G0025666
 protein coding gene Chr2:51641130-51921789 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025571
 protein coding gene Chr2:56322163-56599921 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026210
 protein coding gene Chr2:51108815-51385511 (-)
PWK/PhJ MGP_PWKPhJ_G0024673
 protein coding gene Chr2:49292099-49550529 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024479
 protein coding gene Chr2:51326499-51592579 (-)
WSB/EiJ MGP_WSBEiJ_G0024999
 protein coding gene Chr2:51397795-51663991 (-)



Homology
more
  • Human Ortholog
    CACNB4, calcium voltage-gated channel auxiliary subunit beta 4
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CACNB4, calcium voltage-gated channel auxiliary subunit beta 4
  • Synonyms
    CAB4, CACNLB4, EA5, EIG9, EJM, EJM4, EJM6
  • Links
    NCBI Gene ID: 785
    neXtProt AC: NX_O00305
    UniProt: O00305

  • Chr Location
    2q23.3; chr2:151832771-152099167 (-)  GRCh38
Human Diseases
more
  • Diseases
    4 with human CACNB4 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    58 phenotypes from 4 alleles in 7 genetic backgrounds
    43 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.
Homozygous mutants have lethargic behavior, unstable gait and seizures, with peripheral motor nerves showing reduced conduction velocity and prolonged distal latency.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    60
  • GO References
    28
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
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
    804
  • Tissues
    55
  • cDNA Data
    15
  • Literature Summary
    15
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12298 NCBI Gene Model | MGI Sequence Detail 248485 C57BL/6J ±  kb
    transcript NM_001285427 RefSeq | MGI Sequence Detail 8032 ZRU/MplStud  
    polypeptide Q8R0S4 UniProt | EBI | MGI Sequence Detail 519 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000004949 voltage-dependent L-type calcium channel subunit beta-4
      (term hierarchy)
    • InterPro Domains
      IPR008145 Guanylate kinase/L-type calcium channel beta subunit
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
      IPR001452 SH3 domain
      IPR036028 SH3-like domain superfamily
      IPR000584 Voltage-dependent calcium channel, L-type, beta subunit
      IPR046937 Voltage-dependent L-type calcium channel subunit beta-1-4, N-terminal A domain
    • GlyGen
      Q8R0S4 3 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 34
      cDNA 19
      Primer pair 10
      Other 5

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGD-MRK-11801, MGD-MRK-24185, MGI:1920370
    References
    more
    • Summaries
      All 106
      Developmental Gene Expression 15
      Gene Ontology 28
      Phenotypes 43
    • Earliest
      J:5281 Dung HC, et al., Histo-pathologic observations of the nervous and lymphoid tissues of lethargic mutant mice. Tex Rep Biol Med. 1972 Spring;30(1):23-39
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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