CACNB4

GENERAL INFORMATION

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Gene name

CACNB4

Gene description

Calcium channel, voltage-dependent, beta 4 subunit

Protein class

Disease related genes
FDA approved drug targets
Plasma proteins
Predicted intracellular proteins
Transporters

Predicted localization

Intracellular

Number of transcripts

8
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (cerebral cortex)
GTEx:Tissue enhanced (cerebellum)

Protein evidence

Evidence at protein level

Protein localization

Most normal tissues displayed moderate cytoplasmic staining often accompanied with nuclear positivity. Strong cytoplasmic positivity was observed in the adrenal cortex, Leydig cells in testis and Purkinje cells in cerebellum whereas neuronal cells displayed strong nuclear positivity and cells of granular layer of cerebellum nuclear membranous.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA015601
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Cerebellum

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (cerebral cortex)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (cerebellum)

Organ

Expression



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

Cytoband

q23.3

Chromosome location (bp)

151832776 - 152099079

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000182389 (version 78.38)

Entrez gene

785

UniProt

O00305 (UniProt - Evidence at protein level)

neXtProt

NX_O00305

Antibodypedia

CACNB4 antibodies


PROTEIN BROWSER

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ENST00000201943
 
ENST00000360283
 
ENST00000397327
 
ENST00000427385
 
ENST00000434468
 
ENST00000439467
 
ENST00000534999
 
ENST00000539935
 
 
 
 


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
E7DBM8
Show all »
Show » Show » 207 23 No 0