CACNB4

GENE INFORMATION

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Gene name

CACNB4 (HGNC Symbol)

Synonyms

EJM4

Description

calcium channel, voltage-dependent, beta 4 subunit (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE) and juvenile myoclonic epilepsy (JME). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Chromosome

2 (Chromosome progress)

Cytoband

q23.3

Chromosome location (bp)

152689290 - 152955593

Ensembl

ENSG00000182389 (version 73.37)

Entrez gene

785

UniProt

O00305 (UniProt - Evidence at protein level)

neXtProt

NX_O00305

Antibodypedia

CACNB4 antibodies
 

PROTEIN VIEW

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CACNB4-001
 
CACNB4-002
 
CACNB4-003
 
CACNB4-004
 
CACNB4-005
 
CACNB4-006
 
CACNB4-009
 
CACNB4-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CACNB4-001 ENSP00000438949
ENST00000539935
O00305
Show all »
Show » Show » 520 58.2 No 0
CACNB4-002 ENSP00000380490
ENST00000397327
E7EN11
Show all »
Show » Show » 473 53.2 No 0
CACNB4-003 ENSP00000443893
ENST00000534999
O00305
Show all »
Show » Show » 486 54.7 No 0
CACNB4-004 ENSP00000201943
ENST00000201943
O00305
Show all »
Show » Show » 458 51.3 No 0
CACNB4-005 ENSP00000410978
ENST00000427385
O00305
Show all »
Show » Show » 502 56.4 No 0
CACNB4-006 ENSP00000390161
ENST00000439467
H0Y476
Show all »
Show » Show » 515 57.7 No 0
CACNB4-009 ENSP00000399242
ENST00000434468
C9J224
Show all »
Show » Show » 108 12 No 0
CACNB4-201 ENSP00000353425
ENST00000360283
F8WA06
Show all »
Show » Show » 487 54.8 No 0