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FLASH GENE
Symbol CACNB4 contributors: - updated : 24-11-2006
HGNC name calcium channel, voltage-dependent, beta 4 subunit
HGNC id 1404
Corresponding disease
EA5 episodic ataxia, type 5
Location 2q22-q23      Physical location : 152.689.287 - 152.955.593
Synonym symbol(s) CACNLB4 , CAVB4
DNA
TYPE functioning gene
STRUCTURE 260.00 kb     14 Exon(s)
10 Kb 5' upstream gene genomic sequence study
text structure with a split exon 1 (1A,1B)
MAPPING cloned Y linked Y status confirmed
Map cen - D2S356 - CACNB4 /D2S2275 /D2S2236 ,D2S2241 - qter
Authors Betz (98)
Physical map
ACVR2 2q22.2-q23.3 activin A receptor, type II ORC4L 2q22-q23 origin recognition complex, subunit 4-like (yeast) MBD5 2q23.2 methyl-CpG binding domain protein 5 DKFZP566F2124 2q23.3 DKFZP566F2124 protein UBBP3 2q22.3 ubiquitin B pseudogene 3 LOC344172 2q23.3 similar to ubiquitin specific protease 8 LOC391451 2 similar to Kinesin heavy chain isoform 5C (Kinesin heavy chain neuron-specific 2) KIF5C 2q22.3-q32 kinesin family member 5C LOC151276 2q23.3 thioredoxin 1 pseudogene 1 LOC130576 2q23.3 hypothetical protein LOC130576 MGC52057 2q23.3 hypothetical protein MGC52057 CL25022 2q23.3 hypothetical protein CL25022 FLJ32955 2q23.3 hypothetical protein FLJ32955 ARHE 2q23.3 ras homolog gene family, member E LOC339782 2q23.3 hypothetical LOC339782 LOC344332 2q23.3 similar to Fatty acid-binding protein, epidermal (E-FABP) (Psoriasis-associated fatty acid-binding protein homolog) (PA-FABP) LOC389054 2 similar to FLJ45645 protein NMI 22q13.3 N-myc (and STAT) interactor TNFAIP6 2q23.3 tumor necrosis factor, alpha-induced protein 6 DKFZP434D193 2q24.1 DKFZP434D193 protein NEB 2q21.2-q22 nebulin ARL5 2q23.3 ADP-ribosylation factor-like 5 CACNB4 2q22-q23 calcium channel, voltage-dependent, beta 4 subunit STAM2 2q24.1 signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 NUDCP1 2q23-q24 nuclear distribution gene C homolog (A. nidulans) pseudogene 1 FNBP3 2q23.3 formin binding protein 3 MGC33864 2q24.1 ADP-ribosylation-like factor 6-interacting protein 6 LOC391452 2 similar to ATP synthase B chain, mitochondrial precursor LOC391453 2 similar to ribosomal protein L23a REPRIMO 2q24.1 candidate mediator of the p53-dependent G2 arrest GALNT13 2q24.1 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) KCNJ3 2q24.1 potassium inwardly-rectifying channel, subfamily J, member 3 LOC391454 2 similar to ATP synthase alpha chain, mitochondrial precursor NR4A2 2q22-q23 nuclear receptor subfamily 4, group A, member 2 LOC389055 2 LOC389055 GPD2 2q24.1 glycerol-3-phosphate dehydrogenase 2 (mitochondrial) LOC391455 2 similar to Acidic ribosomal phosphoprotein P0
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 3079 58 520 - Chen
an alternate in-frame exon in the 5'UTR and in the coding region, also using an upstream start codon
- - 3062 - 502 - Chen
see variant 2
- - 3185 - 486 - Chen
the longest transcript
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrainhindbraincerebellum predominantly
 spinal cord    
Respiratoryrespiratory tracttrachea   
Urinarykidney   predominantly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Lymphoid/Immunelymphocyte
cell lineage lymphoblasts
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
one SH3 domain
mono polymer heteromer , tetramer
HOMOLOGY
interspecies homolog to murine epilepsy gene lethargic
homolog to murine Cacnb4
Homologene
FAMILY beta subunit family
CATEGORY transport channel
SUBCELLULAR LOCALIZATION
basic FUNCTION
  • calcium voltage-gated channel (VDCC)
  • modulator of calcium currents
  • participating in the membrane trafficking of the alpha 1 subunits
  • contributing to the function of the
  • calcium channel by increasing peak calcium current, shifting the voltage dependencies of
    activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit
    membrane targeting
  • playing a critical role in T lymphocyte function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    text calcium ion transport
    PATHWAY
    metabolism
    signaling
    a component L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma
    INTERACTION
    DNA
    RNA
    small molecule
    protein binding to CNGA2
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EA5
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in generalized epilepsy and juvenilemyoclonic epilepsy
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS