Cacnb4
Gene Detail

Symbol Name ID

Cacnb4 calcium channel, voltage-dependent, beta 4 subunit MGI:103301

Synonyms

3110038O15Rik, Cchb4

Feature Type

protein coding gene

Genetic Map

Chromosome 2

29.98 cM
Detailed Genetic Map ± 1 cM


Mapping data(11)

Sequence Map

Chr2:52428325-52676831 bp, - strand From VEGA annotation of GRCm38   248507 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:20188  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Cacnb4

Human homologs

Human Homolog		CACNB4, calcium channel, voltage-dependent, beta 4 subunit
NCBI Gene ID		785
neXtProt AC		NX_O00305
Human Synonyms		CAB4, CACNLB4, EA5, EIG9, EJM, EJM4, EJM6
Human Chr (Location)		2q22-q23; chr2:152689285-152955593 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human CACNB4

Alleles and phenotypes

All alleles(5) : Targeted(1) Spontaneous(4)
 

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

All GO classifications: (39 annotations)

Process	adult walking behavior, calcium ion transmembrane transport, ...
Component	plasma membrane, synapse, ...
Function	calcium channel activity, high voltage-gated calcium channel activity, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (10 records)
Data Summary: Results (73)    Tissues (44)    Images (17)
Theiler Stages: 15, 17, 20, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	19
RNA in situ	40
RT-PCR	14

cDNA source data(13)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(20) cDNA(17) Primer pair(2) Other(1)
Microarray probesets(8)

Other database links

VEGA Gene Model	OTTMUSG00000012607 (Evidence)
Ensembl Gene Model	ENSMUSG00000017412 (Evidence)
Entrez Gene	12298 (Evidence)
PDB	1VYV
Consensus CDS Project	CCDS16034.1, CCDS16035.1
International Mouse Knockout Project Status	Cacnb4

Sequences

Length	Strain/Species
genomic	OTTMUSG00000012607	VEGA Gene Model | MGI Sequence Detail	248507	C57BL/6J
transcript	OTTMUST00000030067	VEGA | MGI Sequence Detail	8225	Not Applicable
polypeptide	OTTMUSP00000013519	VEGA | MGI Sequence Detail	519	Not Applicable

All sequences(52) RefSeq(4) UniProt(6)

Polymorphisms

RFLP(2) : SNPs(1086 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR008144	Guanylate kinase
InterPro	IPR008145	Guanylate kinase/L-type calcium channel
InterPro	IPR027417	P-loop containing nucleoside triphosphate hydrolase
InterPro	IPR001452	Src homology-3 domain
InterPro	IPR000584	Voltage-dependent calcium channel, L-type, beta subunit
Protein Ontology	PR:000004949	voltage-dependent L-type calcium channel subunit beta-4

References

(Earliest) J:28465 Dickie MM, Lethargic (lh). Mouse News Lett. 1964;30:31
(Latest) J:188568 Tadmouri A, et al., Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsy. EMBO J. 2012 Sep 12;31(18):3730-44
All references(90)

Other accession IDs

MGD-MRK-11801, MGD-MRK-24185, MGI:1920370