ENSG00000182389


Homo sapiens

Features
Gene ID: ENSG00000182389
  
Biological name :CACNB4
  
Synonyms : CACNB4 / calcium voltage-gated channel auxiliary subunit beta 4 / O00305
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q23.3
Gene start: 151832768
Gene end: 152099475
  
Corresponding Affymetrix probe sets: 207693_at (Human Genome U133 Plus 2.0 Array)   243244_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000489679
Ensembl peptide - ENSP00000489677
Ensembl peptide - ENSP00000489732
Ensembl peptide - ENSP00000490918
Ensembl peptide - ENSP00000490910
Ensembl peptide - ENSP00000490891
Ensembl peptide - ENSP00000490817
Ensembl peptide - ENSP00000490795
Ensembl peptide - ENSP00000490787
Ensembl peptide - ENSP00000490660
Ensembl peptide - ENSP00000490651
Ensembl peptide - ENSP00000490607
Ensembl peptide - ENSP00000490603
Ensembl peptide - ENSP00000490572
Ensembl peptide - ENSP00000490510
Ensembl peptide - ENSP00000490501
Ensembl peptide - ENSP00000490488
Ensembl peptide - ENSP00000490443
Ensembl peptide - ENSP00000490430
Ensembl peptide - ENSP00000490337
Ensembl peptide - ENSP00000490304
Ensembl peptide - ENSP00000490298
Ensembl peptide - ENSP00000490252
Ensembl peptide - ENSP00000490250
Ensembl peptide - ENSP00000490249
Ensembl peptide - ENSP00000490247
Ensembl peptide - ENSP00000490176
Ensembl peptide - ENSP00000490145
Ensembl peptide - ENSP00000490144
Ensembl peptide - ENSP00000490138
Ensembl peptide - ENSP00000490127
Ensembl peptide - ENSP00000490124
Ensembl peptide - ENSP00000489967
Ensembl peptide - ENSP00000489953
Ensembl peptide - ENSP00000489943
Ensembl peptide - ENSP00000489915
Ensembl peptide - ENSP00000489912
Ensembl peptide - ENSP00000489883
Ensembl peptide - ENSP00000489881
Ensembl peptide - ENSP00000489876
Ensembl peptide - ENSP00000489818
Ensembl peptide - ENSP00000489788
Ensembl peptide - ENSP00000489787
Ensembl peptide - ENSP00000489779
Ensembl peptide - ENSP00000489772
Ensembl peptide - ENSP00000489746
Ensembl peptide - ENSP00000201943
Ensembl peptide - ENSP00000353425
Ensembl peptide - ENSP00000380490
Ensembl peptide - ENSP00000390161
Ensembl peptide - ENSP00000399242
Ensembl peptide - ENSP00000410978
Ensembl peptide - ENSP00000438949
Ensembl peptide - ENSP00000443893
Ensembl peptide - ENSP00000489621
NCBI entrez gene - 785     See in Manteia.
OMIM - 601949
RefSeq - XM_017004888
RefSeq - NM_000726
RefSeq - NM_001005746
RefSeq - NM_001005747
RefSeq - NM_001145798
RefSeq - NM_001320722
RefSeq - NM_001330114
RefSeq - NM_001330117
RefSeq - NM_001330118
RefSeq - XM_011511795
RefSeq - XM_011511796
RefSeq - XM_011511797
RefSeq - XM_011511798
RefSeq - XM_017004880
RefSeq - XM_017004881
RefSeq - XM_017004882
RefSeq - XM_017004883
RefSeq - XM_017004884
RefSeq - XM_017004885
RefSeq - XM_017004887
RefSeq Peptide - NP_001139270
RefSeq Peptide - NP_001317044
RefSeq Peptide - NP_001317045
RefSeq Peptide - NP_001317046
RefSeq Peptide - NP_001317047
RefSeq Peptide - NP_001307651
RefSeq Peptide - NP_001317043
RefSeq Peptide - NP_000717
RefSeq Peptide - NP_001005746
RefSeq Peptide - NP_001005747
swissprot - A0A1B0GU07
swissprot - A0A1B0GU05
swissprot - A0A1B0GTX8
swissprot - A0A1B0GTX6
swissprot - A0A1B0GTX2
swissprot - A0A1B0GTS4
swissprot - A0A1B0GTP6
swissprot - A0A1B0GTP5
swissprot - A0A1B0GTN8
swissprot - A0A1B0GTN2
swissprot - A0A1B0GTL1
swissprot - A0A1B0GTK1
swissprot - A0A1B0GTH0
swissprot - A0A1B0GTF6
swissprot - H0Y476
swissprot - O00305
swissprot - A0A1B0GTA9
swissprot - E7EN11
swissprot - E7DBM8
swissprot - C9J224
swissprot - A0A1C7CYX2
swissprot - A0A1B0GXG0
swissprot - A0A1B0GWG5
swissprot - A0A1B0GWF9
swissprot - A0A1B0GW81
swissprot - A0A1B0GW63
swissprot - A0A1B0GW58
swissprot - A0A1B0GVU5
swissprot - A0A1B0GVT6
swissprot - A0A1B0GVP7
swissprot - A0A1B0GVG1
swissprot - A0A1B0GVF0
swissprot - A0A1B0GVB2
swissprot - A0A1B0GV16
swissprot - A0A1B0GUW8
swissprot - A0A1B0GUU5
swissprot - A0A1B0GUU8
swissprot - A0A1B0GUM9
swissprot - A0A1B0GUK4
swissprot - A0A1B0GUK3
swissprot - A0A1B0GUJ7
swissprot - A0A1B0GUI8
swissprot - A0A1B0GUI5
swissprot - A0A1B0GU53
swissprot - A0A1B0GU42
swissprot - A0A1B0GU32
Ensembl - ENSG00000182389
  
Related genetic diseases (OMIM): 607682 - {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682
  613855 - Episodic ataxia, type 5, 613855
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cacnb4aENSDARG00000009738Danio rerio
 cacnb4bENSDARG00000062174Danio rerio
 Cacnb4ENSMUSG00000017412Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CACNB2 / Q08289 / calcium voltage-gated channel auxiliary subunit beta 2ENSG0000016599566
CACNB1 / Q02641 / calcium voltage-gated channel auxiliary subunit beta 1ENSG0000006719161
CACNB3 / P54284 / calcium voltage-gated channel auxiliary subunit beta 3ENSG0000016753560
AC068547.1ENSG0000028322837


Protein motifs (from Interpro)
Interpro ID Name
 IPR000584  Voltage-dependent calcium channel, L-type, beta subunit
 IPR001452  SH3 domain
 IPR008079  Voltage-dependent calcium channel, L-type, beta-3 subunit
 IPR008145  Guanylate kinase/L-type calcium channel beta subunit
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR036028  SH3-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0007268 chemical synaptic transmission IBA
 biological_processGO:0007528 neuromuscular junction development IBA
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0051899 membrane depolarization TAS
 biological_processGO:0061337 cardiac conduction TAS
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 biological_processGO:1901385 regulation of voltage-gated calcium channel activity IMP
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005891 voltage-gated calcium channel complex IEA
 cellular_componentGO:0009898 cytoplasmic side of plasma membrane TAS
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005245 voltage-gated calcium channel activity IEA
 molecular_functionGO:0005262 calcium channel activity TAS
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008331 high voltage-gated calcium channel activity IBA


Pathways (from Reactome)
Pathway description
Presynaptic depolarization and calcium channel opening
NCAM1 interactions
Phase 0 - rapid depolarisation
Phase 2 - plateau phase


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0000640 Gaze-evoked nystagmus "Nystagmus made apparent by looking to the right or to the left." [HPO:curators]
Show

 HP:0001260 Dysarthria "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators]
Show

 HP:0002078 Truncal ataxia 
Show

 HP:0002131 Ataxia, episodic 
Show

 HP:0002172 Postural instability 
Show

 HP:0002321 Vertigo "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators]
Show

 HP:0003829 Incomplete penetrance 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000007402 Q9NY47 / CACNA2D2 / calcium voltage-gated channel auxiliary subunit alpha2delta 2  / complex
 ENSG00000151062 Q7Z3S7 / CACNA2D4 / calcium voltage-gated channel auxiliary subunit alpha2delta 4  / complex
 ENSG00000157388 Q01668 / CACNA1D / calcium voltage-gated channel subunit alpha1 D  / complex
 ENSG00000166862 CACNG2 / Q9Y698 / calcium voltage-gated channel auxiliary subunit gamma 2  / complex
 ENSG00000157445 Q8IZS8 / CACNA2D3 / calcium voltage-gated channel auxiliary subunit alpha2delta 3  / complex
 ENSG00000151067 Q13936 / CACNA1C / calcium voltage-gated channel subunit alpha1 C  / complex
 ENSG00000102001 O60840 / CACNA1F / calcium voltage-gated channel subunit alpha1 F  / complex
 ENSG00000153956 P54289 / CACNA2D1 / calcium voltage-gated channel auxiliary subunit alpha2delta 1  / complex
 ENSG00000081248 Q13698 / CACNA1S / calcium voltage-gated channel subunit alpha1 S  / complex
 ENSG00000141837 O00555 / CACNA1A / calcium voltage-gated channel subunit alpha1 A  / complex






 

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