ENSMUSG00000040118


Mus musculus

Features
Gene ID: ENSMUSG00000040118
  
Biological name :Cacna2d1
  
Synonyms : Cacna2d1 / O08532 / Voltage-dependent calcium channel subunit alpha-2/delta-1 Voltage-dependent calcium channel subunit alpha-2-1 Voltage-dependent calcium channel subunit delta-1
  
Possible biological names infered from orthology : calcium voltage-gated channel auxiliary subunit alpha2delta 1 / P54289
  
Species: Mus musculus
  
Chr. number: 5
Strand: 1
Band: A2
Gene start: 15934691
Gene end: 16374511
  
Corresponding Affymetrix probe sets: 10519815 (MoGene1.0st)   10519855 (MoGene1.0st)   1425861_x_at (Mouse Genome 430 2.0 Array)   1433643_at (Mouse Genome 430 2.0 Array)   1440397_at (Mouse Genome 430 2.0 Array)   1441608_at (Mouse Genome 430 2.0 Array)   1449999_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000143082
Ensembl peptide - ENSMUSP00000136260
Ensembl peptide - ENSMUSP00000142881
Ensembl peptide - ENSMUSP00000049457
Ensembl peptide - ENSMUSP00000077391
Ensembl peptide - ENSMUSP00000099117
Ensembl peptide - ENSMUSP00000110936
Ensembl peptide - ENSMUSP00000131507
NCBI entrez gene - 12293     See in Manteia.
MGI - MGI:88295
RefSeq - XM_017320630
RefSeq - NM_001110843
RefSeq - NM_001110844
RefSeq - NM_001110845
RefSeq - NM_001110846
RefSeq - NM_009784
RefSeq - XM_006535618
RefSeq - XM_011249744
RefSeq Peptide - NP_001104315
RefSeq Peptide - NP_001104316
RefSeq Peptide - NP_033914
RefSeq Peptide - NP_001104313
RefSeq Peptide - NP_001104314
swissprot - Q8C6Y3
swissprot - E9Q1X8
swissprot - O08532
swissprot - Q14BH8
Ensembl - ENSMUSG00000040118
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CACNA2D1ENSDARG00000073752Danio rerio
 CACNA2D1ENSGALG00000008486Gallus gallus
 P54289ENSG00000153956Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q6PHS9 / Cacna2d2 / Voltage-dependent calcium channel subunit alpha-2/delta-2 Voltage-dependent calcium channel subunit alpha-2-2 Voltage-dependent calcium channel subunit delta-2 / Q9NY47*...ENSMUSG0000001006654
Q9Z1L5 / Cacna2d3 / Voltage-dependent calcium channel subunit alpha-2/delta-3 Voltage-dependent calcium channel subunit alpha-2-3 Voltage-dependent calcium channel subunit delta-3ENSMUSG0000002199128
Cacna2d4 / voltage-dependent calcium channel subunit alpha-2/delta-4 isoform 2 / Q7Z3S7* / calcium voltage-gated channel auxiliary subunit alpha2delta 4*ENSMUSG0000004146027
Cachd1 / Q6PDJ1 / VWFA and cache domain-containing protein 1 / cache domain containing 1*ENSMUSG0000002853217


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 ISO
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0051924 regulation of calcium ion transport ISO
 biological_processGO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization ISO
 biological_processGO:0060402 calcium ion transport into cytosol ISS
 biological_processGO:0061577 calcium ion transmembrane transport via high voltage-gated calcium channel ISS
 biological_processGO:0070588 calcium ion transmembrane transport ISS
 biological_processGO:0086002 cardiac muscle cell action potential involved in contraction ISS
 biological_processGO:0086048 membrane depolarization during bundle of His cell action potential ISO
 biological_processGO:0086091 regulation of heart rate by cardiac conduction 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 ISO
 biological_processGO:1904646 cellular response to amyloid-beta ISO
 cellular_componentGO:0005891 voltage-gated calcium channel complex ISO
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016529 sarcoplasmic reticulum IDA
 cellular_componentGO:0030315 T-tubule IDA
 cellular_componentGO:1990454 L-type voltage-gated calcium channel complex ISO
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005245 voltage-gated calcium channel activity ISO
 molecular_functionGO:0005262 calcium channel activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0086057 voltage-gated calcium channel activity involved in bundle of His cell action potential ISO


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000539 distended urinary bladder "stretched musculomembranous bag for holding urine" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Nlgn3tm1Bros/Nlgn3tm1Bros
Genetic Background: B6.Cg-Nlgn3tm1Bros

 MP:0002206 abnormal CNS synaptic transmission "defect in the communication from a neuron to a target across a synapse in the central nervous system" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Pax2tm1Pgr/Pax2+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0003488 decreased channel response intensity 
Show

Allelic Composition: Nlgn3tm1Bros/Nlgn3tm1Bros
Genetic Background: B6.Cg-Nlgn3tm1Bros

 MP:0003489 increased channel response threshold 
Show

Allelic Composition: Nlgn3tm1Bros/Nlgn3tm1Bros
Genetic Background: B6.Cg-Nlgn3tm1Bros

 MP:0004145 abnormal muscle electrophysiology "anomaly in the function of the musculature as it relates to electrical phenomena" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Nlgn3tm1Bros/Nlgn3tm1Bros
Genetic Background: B6.Cg-Nlgn3tm1Bros

 MP:0005140 decreased cardiac muscle contractility "inability or reduced ability of the heart muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Nlgn3tm1Bros/Nlgn3tm1Bros
Genetic Background: B6.Cg-Nlgn3tm1Bros

 MP:0009747 impaired behavioral response to xenobiotic "decreased sensitivity to a foreign compound capable of inducing the appearance of behavioral response, such as consumption preference, induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pax2tm1Pgr/Pax2+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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