ENSG00000166862


Homo sapiens

Features
Gene ID: ENSG00000166862
  
Biological name :CACNG2
  
Synonyms : CACNG2 / calcium voltage-gated channel auxiliary subunit gamma 2 / Q9Y698
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: -1
Band: q12.3
Gene start: 36563921
Gene end: 36703558
  
Corresponding Affymetrix probe sets: 214495_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000300105
NCBI entrez gene - 10369     See in Manteia.
OMIM - 602911
RefSeq - NM_006078
RefSeq Peptide - NP_006069
swissprot - Q9Y698
Ensembl - ENSG00000166862
  
Related genetic diseases (OMIM): 614256 - ?Mental retardation, autosomal dominant 10, 614256
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
 cacng2aENSDARG00000032565Danio rerio
 CACNG2ENSGALG00000031977Gallus gallus
 Cacng2ENSMUSG00000019146Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CACNG3 / O60359 / calcium voltage-gated channel auxiliary subunit gamma 3ENSG0000000611675
CACNG8 / Q8WXS5 / calcium voltage-gated channel auxiliary subunit gamma 8ENSG0000014240861
CACNG4 / Q9UBN1 / calcium voltage-gated channel auxiliary subunit gamma 4ENSG0000007546160
CACNG5 / Q9UF02 / calcium voltage-gated channel auxiliary subunit gamma 5ENSG0000007542925
CACNG7 / P62955 / calcium voltage-gated channel auxiliary subunit gamma 7ENSG0000010560525


Protein motifs (from Interpro)
Interpro ID Name
 IPR004031  PMP-22/EMP/MP20/Claudin superfamily
 IPR005422  Voltage-dependent calcium channel, gamma-2 subunit
 IPR008368  Voltage-dependent calcium channel, gamma subunit


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0007528 neuromuscular junction development IEA
 biological_processGO:0019226 transmission of nerve impulse IEA
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0042391 regulation of membrane potential IEA
 biological_processGO:0050877 nervous system process IEA
 biological_processGO:0051899 membrane depolarization IEA
 biological_processGO:0060081 membrane hyperpolarization IEA
 biological_processGO:0061337 cardiac conduction TAS
 biological_processGO:0070588 calcium ion transmembrane transport IBA
 biological_processGO:0098943 neurotransmitter receptor transport, postsynaptic endosome to lysosome IEA
 biological_processGO:0098970 postsynaptic neurotransmitter receptor diffusion trapping IEA
 biological_processGO:0099590 neurotransmitter receptor internalization IEA
 biological_processGO:2000311 regulation of AMPA receptor activity IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005891 voltage-gated calcium channel complex TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030666 endocytic vesicle membrane TAS
 cellular_componentGO:0032281 AMPA glutamate receptor complex IEA
 cellular_componentGO:0036477 somatodendritic compartment IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0098839 postsynaptic density membrane IEA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005245 voltage-gated calcium channel activity TAS
 molecular_functionGO:0005262 calcium channel activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016247 channel regulator activity IBA
 molecular_functionGO:0035255 ionotropic glutamate receptor binding IEA


Pathways (from Reactome)
Pathway description
Presynaptic depolarization and calcium channel opening
Trafficking of AMPA receptors
Phase 0 - rapid depolarisation
Phase 2 - plateau phase
LGI-ADAM interactions


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:0001249 Mental retardation 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000135679 MDM2 / Q00987 / MDM2 proto-oncogene  / complex
 ENSG00000148408 Q00975 / CACNA1B / calcium voltage-gated channel subunit alpha1 B  / complex
 ENSG00000132535 DLG4 / P78352 / discs large MAGUK scaffold protein 4  / complex
 ENSG00000114948 ADAM23 / O75077 / ADAM metallopeptidase domain 23  / complex / reaction
 ENSG00000182389 CACNB4 / O00305 / calcium voltage-gated channel auxiliary subunit beta 4  / complex
 ENSG00000008277 ADAM22 / Q9P0K1 / ADAM metallopeptidase domain 22  / complex
 ENSG00000167535 CACNB3 / P54284 / calcium voltage-gated channel auxiliary subunit beta 3  / complex
 ENSG00000141837 O00555 / CACNA1A / calcium voltage-gated channel subunit alpha1 A  / complex
 ENSG00000108231 LGI1 / O95970 / leucine rich glioma inactivated 1  / complex / reaction






 

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