ENSG00000153956


Homo sapiens

Features
Gene ID: ENSG00000153956
  
Biological name :CACNA2D1
  
Synonyms : CACNA2D1 / calcium voltage-gated channel auxiliary subunit alpha2delta 1 / P54289
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: q21.11
Gene start: 81946444
Gene end: 82443798
  
Corresponding Affymetrix probe sets: 207050_at (Human Genome U133 Plus 2.0 Array)   227623_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000409374
Ensembl peptide - ENSP00000348589
Ensembl peptide - ENSP00000349320
Ensembl peptide - ENSP00000405395
NCBI entrez gene - 781     See in Manteia.
OMIM - 114204
RefSeq - XM_017012588
RefSeq - XM_006716119
RefSeq - XM_006716120
RefSeq - XM_011516570
RefSeq - XM_011516571
RefSeq - XM_011516572
RefSeq - NM_000722
RefSeq - NM_001302890
RefSeq - XM_005250570
RefSeq - XM_005250572
RefSeq - XM_005250573
RefSeq - XM_005250574
RefSeq - XM_006716118
RefSeq Peptide - NP_000713
RefSeq Peptide - NP_001289819
swissprot - H0Y715
swissprot - P54289
swissprot - E7ERK3
Ensembl - ENSG00000153956
  
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
 CACNA2D1ENSDARG00000073752Danio rerio
 CACNA2D1ENSGALG00000008486Gallus gallus
 O08532ENSMUSG00000040118Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9NY47 / CACNA2D2 / calcium voltage-gated channel auxiliary subunit alpha2delta 2ENSG0000000740255
Q8IZS8 / CACNA2D3 / calcium voltage-gated channel auxiliary subunit alpha2delta 3ENSG0000015744528
Q7Z3S7 / CACNA2D4 / calcium voltage-gated channel auxiliary subunit alpha2delta 4ENSG0000015106227
CACHD1 / cache domain containing 1ENSG0000015896617


Protein motifs (from Interpro)
Interpro ID Name
 IPR002035  von Willebrand factor, type A
 IPR013608  VWA N-terminal
 IPR013680  Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region
 IPR036465  von Willebrand factor A-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0051924 regulation of calcium ion transport IDA
 biological_processGO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization IMP
 biological_processGO:0060402 calcium ion transport into cytosol ISS
 biological_processGO:0061337 cardiac conduction TAS
 biological_processGO:0061577 calcium ion transmembrane transport via high voltage-gated calcium channel ISS
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 biological_processGO:0086002 cardiac muscle cell action potential involved in contraction IMP
 biological_processGO:0086048 membrane depolarization during bundle of His cell action potential IMP
 biological_processGO:0086091 regulation of heart rate by cardiac conduction IMP
 biological_processGO:0098703 calcium ion import across plasma membrane ISS
 biological_processGO:0098903 regulation of membrane repolarization during action potential ISS
 biological_processGO:1901843 positive regulation of high voltage-gated calcium channel activity ISS
 biological_processGO:1902514 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel IGI
 biological_processGO:1904646 cellular response to amyloid-beta IGI
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005891 voltage-gated calcium channel complex IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016529 sarcoplasmic reticulum IEA
 cellular_componentGO:0030315 T-tubule IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 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 IGI
 molecular_functionGO:0005262 calcium channel activity IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0086007 voltage-gated calcium channel activity involved in cardiac muscle cell action potential IC
 molecular_functionGO:0086057 voltage-gated calcium channel activity involved in bundle of His cell action potential IMP


Pathways (from Reactome)
Pathway description
Phase 0 - rapid depolarisation
Phase 2 - plateau phase


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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:0001645 Sudden cardiac death 
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 HP:0001662 Bradycardia 
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 HP:0001663 Ventricular fibrillation 
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 HP:0001678 Atrioventricular block 
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 HP:0001962 Palpitations 
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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
 ENSG00000182389 CACNB4 / O00305 / calcium voltage-gated channel auxiliary subunit beta 4  / complex
 ENSG00000081248 Q13698 / CACNA1S / calcium voltage-gated channel subunit alpha1 S  / complex
 ENSG00000157388 Q01668 / CACNA1D / calcium voltage-gated channel subunit alpha1 D  / complex
 ENSG00000165995 CACNB2 / Q08289 / calcium voltage-gated channel auxiliary subunit beta 2  / complex
 ENSG00000067191 CACNB1 / Q02641 / calcium voltage-gated channel auxiliary subunit beta 1  / complex
 ENSG00000102001 O60840 / CACNA1F / calcium voltage-gated channel subunit alpha1 F  / complex
 ENSG00000151067 Q13936 / CACNA1C / calcium voltage-gated channel subunit alpha1 C  / complex
 ENSG00000167535 CACNB3 / P54284 / calcium voltage-gated channel auxiliary subunit beta 3  / complex






 

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