ENSG00000165995


Homo sapiens

Features
Gene ID: ENSG00000165995
  
Biological name :CACNB2
  
Synonyms : CACNB2 / calcium voltage-gated channel auxiliary subunit beta 2 / Q08289
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: 1
Band: p12.33
Gene start: 18140677
Gene end: 18543557
  
Corresponding Affymetrix probe sets: 1555098_a_at (Human Genome U133 Plus 2.0 Array)   1559419_at (Human Genome U133 Plus 2.0 Array)   1559420_x_at (Human Genome U133 Plus 2.0 Array)   207776_s_at (Human Genome U133 Plus 2.0 Array)   213714_at (Human Genome U133 Plus 2.0 Array)   215365_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000480563
Ensembl peptide - ENSP00000480260
Ensembl peptide - ENSP00000494209
Ensembl peptide - ENSP00000496203
Ensembl peptide - ENSP00000495854
Ensembl peptide - ENSP00000495509
Ensembl peptide - ENSP00000282343
Ensembl peptide - ENSP00000320025
Ensembl peptide - ENSP00000344474
Ensembl peptide - ENSP00000366532
Ensembl peptide - ENSP00000366536
Ensembl peptide - ENSP00000366545
Ensembl peptide - ENSP00000366546
Ensembl peptide - ENSP00000366548
Ensembl peptide - ENSP00000379821
Ensembl peptide - ENSP00000478676
Ensembl peptide - ENSP00000479756
NCBI entrez gene - 783     See in Manteia.
OMIM - 600003
RefSeq - NM_201597
RefSeq - NM_000724
RefSeq - NM_001167945
RefSeq - NM_201570
RefSeq - NM_201571
RefSeq - NM_201572
RefSeq - NM_201590
RefSeq - NM_201593
RefSeq - NM_201596
RefSeq - XM_005252588
RefSeq - XM_005252591
RefSeq - XM_006717502
RefSeq - XM_011519659
RefSeq - XM_011519660
RefSeq - XM_017016625
RefSeq Peptide - NP_001161417
RefSeq Peptide - NP_963864
RefSeq Peptide - NP_963865
RefSeq Peptide - NP_963866
RefSeq Peptide - NP_963884
RefSeq Peptide - NP_963887
RefSeq Peptide - NP_963890
RefSeq Peptide - NP_963891
RefSeq Peptide - NP_000715
RefSeq Peptide - NP_001316989
swissprot - A6PVM6
swissprot - A0A087WWJ0
swissprot - A0A087WVX5
swissprot - A0A087WUH4
swissprot - Q08289
swissprot - Q5VVH1
swissprot - Q6TME0
Ensembl - ENSG00000165995
  
Related genetic diseases (OMIM): 611876 - Brugada syndrome 4, 611876
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
 cacnb2aENSDARG00000099045Danio rerio
 cacnb2bENSDARG00000055565Danio rerio
 CACNB2ENSGALG00000008591Gallus gallus
 Cacnb2ENSMUSG00000057914Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CACNB1 / Q02641 / calcium voltage-gated channel auxiliary subunit beta 1ENSG0000006719157
CACNB4 / O00305 / calcium voltage-gated channel auxiliary subunit beta 4ENSG0000018238952
CACNB3 / P54284 / calcium voltage-gated channel auxiliary subunit beta 3ENSG0000016753546
AC068547.1ENSG0000028322822


Protein motifs (from Interpro)
Interpro ID Name
 IPR000584  Voltage-dependent calcium channel, L-type, beta subunit
 IPR001452  SH3 domain
 IPR005444  Voltage-dependent calcium channel, L-type, beta-2 subunit
 IPR008145  Guanylate kinase/L-type calcium channel beta subunit
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR035605  CACNB2, SH3 domain
 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 TAS
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0051928 positive regulation of calcium ion transport IDA
 biological_processGO:0061337 cardiac conduction TAS
 biological_processGO:0070509 calcium ion import IDA
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 biological_processGO:0072659 protein localization to plasma membrane ISS
 biological_processGO:0086045 membrane depolarization during AV node cell action potential IMP
 biological_processGO:0086091 regulation of heart rate by cardiac conduction IMP
 biological_processGO:0098912 membrane depolarization during atrial cardiac muscle cell action potential IMP
 biological_processGO:1901385 regulation of voltage-gated calcium channel activity IBA
 biological_processGO:1901843 positive regulation of high voltage-gated calcium channel activity ISS
 biological_processGO:1904879 positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel ISS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane NAS
 cellular_componentGO:0005891 voltage-gated calcium channel complex IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0042383 sarcolemma IEA
 cellular_componentGO:1990454 L-type voltage-gated calcium channel complex IDA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005245 voltage-gated calcium channel activity IEA
 molecular_functionGO:0005262 calcium channel activity NAS
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008331 high voltage-gated calcium channel activity IDA
 molecular_functionGO:0051015 actin filament binding ISS
 molecular_functionGO:0086007 voltage-gated calcium channel activity involved in cardiac muscle cell action potential IMP
 molecular_functionGO:0086056 voltage-gated calcium channel activity involved in AV node cell action potential IMP


Pathways (from Reactome)
Pathway description
Presynaptic depolarization and calcium channel opening
Adrenaline,noradrenaline inhibits insulin secretion
NCAM1 interactions
Regulation of insulin secretion
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]
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 HP:0001279 Syncope "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. This term refers to an abnormally increased disposition to syncope." [HPO:curators]
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 HP:0005110 Atrial fibrillation 
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 HP:0012232 Shortened QT interval "Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)." [HPO:probinson]
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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
 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






 

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