ENSG00000070808


Homo sapiens

Features
Gene ID: ENSG00000070808
  
Biological name :CAMK2A
  
Synonyms : calcium/calmodulin dependent protein kinase II alpha / CAMK2A / Q9UQM7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: -1
Band: q32
Gene start: 150219491
Gene end: 150290291
  
Corresponding Affymetrix probe sets: 207613_s_at (Human Genome U133 Plus 2.0 Array)   213108_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000261793
Ensembl peptide - ENSP00000427580
Ensembl peptide - ENSP00000426607
Ensembl peptide - ENSP00000381412
NCBI entrez gene - 815     See in Manteia.
OMIM - 114078
RefSeq - NM_015981
RefSeq - XM_017009898
RefSeq - NM_171825
RefSeq Peptide - NP_057065
RefSeq Peptide - NP_741960
swissprot - D6RHX9
swissprot - D6RFJ0
swissprot - Q7LDD5
swissprot - Q9UQM7
swissprot - A8K161
Ensembl - ENSG00000070808
  
Related genetic diseases (OMIM): 617798 - Mental retardation, autosomal dominant 53, 617798
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
 camk2aENSDARG00000053617Danio rerio
 CAMK2AENSGALG00000005621Gallus gallus
 Camk2aENSMUSG00000024617Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CAMK2D / Q13557 / calcium/calmodulin dependent protein kinase II deltaENSG0000014534986
CAMK2B / Q13554 / calcium/calmodulin dependent protein kinase II betaENSG0000005840484
CAMK2G / Q13555 / calcium/calmodulin dependent protein kinase II gammaENSG0000014866083
CAMK4 / Q16566 / calcium/calmodulin dependent protein kinase IVENSG0000015249529
CAMK1G / Q96NX5 / calcium/calmodulin dependent protein kinase IGENSG0000000811828
CAMK1 / Q14012 / calcium/calmodulin dependent protein kinase IENSG0000013407227
PNCK / Q6P2M8 / pregnancy up-regulated nonubiquitous CaM kinaseENSG0000013082227
CAMK1D / Q8IU85 / calcium/calmodulin dependent protein kinase IDENSG0000018304927
CAMKV / Q8NCB2 / CaM kinase like vesicle associatedENSG0000016407624
PSKH1 / P11801 / protein serine kinase H1ENSG0000015979223
PSKH2 / Q96QS6 / protein serine kinase H2ENSG0000014761320


Protein motifs (from Interpro)
Interpro ID Name
 IPR000719  Protein kinase domain
 IPR008271  Serine/threonine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR013543  Calcium/calmodulin-dependent protein kinase II, association-domain
 IPR017441  Protein kinase, ATP binding site
 IPR032710  NTF2-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000082 G1/S transition of mitotic cell cycle ISS
 biological_processGO:0000165 MAPK cascade TAS
 biological_processGO:0002931 response to ischemia ISS
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0006816 calcium ion transport ISS
 biological_processGO:0007223 Wnt signaling pathway, calcium modulating pathway TAS
 biological_processGO:0007399 nervous system development IBA
 biological_processGO:0010666 positive regulation of cardiac muscle cell apoptotic process ISS
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0018105 peptidyl-serine phosphorylation ISS
 biological_processGO:0018107 peptidyl-threonine phosphorylation IBA
 biological_processGO:0030154 cell differentiation IBA
 biological_processGO:0035556 intracellular signal transduction IBA
 biological_processGO:0038166 angiotensin-activated signaling pathway IDA
 biological_processGO:0046777 protein autophosphorylation ISS
 biological_processGO:0046928 regulation of neurotransmitter secretion ISS
 biological_processGO:0048168 regulation of neuronal synaptic plasticity ISS
 biological_processGO:0048813 dendrite morphogenesis IEA
 biological_processGO:0051092 positive regulation of NF-kappaB transcription factor activity IMP
 biological_processGO:0051928 positive regulation of calcium ion transport ISS
 biological_processGO:0060333 interferon-gamma-mediated signaling pathway TAS
 biological_processGO:1900034 regulation of cellular response to heat TAS
 biological_processGO:1902108 regulation of mitochondrial membrane permeability involved in apoptotic process ISS
 cellular_componentGO:0005634 nucleus HDA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005739 mitochondrion ISS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0014069 postsynaptic density IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030666 endocytic vesicle membrane TAS
 cellular_componentGO:0042734 presynaptic membrane IEA
 cellular_componentGO:0043005 neuron projection IBA
 cellular_componentGO:0045202 synapse IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity ISS
 molecular_functionGO:0004683 calmodulin-dependent protein kinase activity IMP
 molecular_functionGO:0005088 Ras guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005516 calmodulin binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0009931 calcium-dependent protein serine/threonine kinase activity IMP
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0035254 glutamate receptor binding ISS
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
HSF1-dependent transactivation
Trafficking of AMPA receptors
Ca2+ pathway
Unblocking of NMDA receptor, glutamate binding and activation
CREB phosphorylation through the activation of CaMKII
CREB phosphorylation through the activation of Ras
Ras activation upon Ca2+ influx through NMDA receptor
Phase 0 - rapid depolarisation
Ion homeostasis
RAF/MAP kinase cascade
Interferon gamma signaling
Ion transport by P-type ATPases


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000033122 LRRC7 / Q96NW7 / leucine rich repeat containing 7  / reaction / complex
 ENSG00000082458 DLG3 / Q92796 / discs large MAGUK scaffold protein 3  / reaction / complex
 ENSG00000105464 GRIN2D / O15399 / glutamate ionotropic receptor NMDA type subunit 2D  / reaction / complex
 ENSG00000113319 O14827 / RASGRF2 / Ras protein specific guanine nucleotide releasing factor 2  / reaction / complex
 ENSG00000120251 GRIA2 / P42262 / glutamate ionotropic receptor AMPA type subunit 2  / reaction
 ENSG00000058404 CAMK2B / Q13554 / calcium/calmodulin dependent protein kinase II beta  / reaction / complex
 ENSG00000155511 GRIA1 / P42261 / glutamate ionotropic receptor AMPA type subunit 1  / reaction
 ENSG00000152578 GRIA4 / P48058 / glutamate ionotropic receptor AMPA type subunit 4  / reaction
 ENSG00000150672 DLG2 / Q15700 / discs large MAGUK scaffold protein 2  / reaction / complex
 ENSG00000132535 DLG4 / P78352 / discs large MAGUK scaffold protein 4  / complex / reaction
 ENSG00000161509 GRIN2C / Q14957 / glutamate ionotropic receptor NMDA type subunit 2C  / reaction / complex
 ENSG00000148660 CAMK2G / Q13555 / calcium/calmodulin dependent protein kinase II gamma  / complex / reaction
 ENSG00000145349 CAMK2D / Q13557 / calcium/calmodulin dependent protein kinase II delta  / reaction / complex
 ENSG00000183454 GRIN2A / Q12879 / glutamate ionotropic receptor NMDA type subunit 2A  / reaction / complex
 ENSG00000127914 AKAP9 / Q99996 / A-kinase anchoring protein 9  / reaction / complex
 ENSG00000126458 RRAS / P10301 / RAS related  / reaction
 ENSG00000277586 NEFL / P07196 / neurofilament light  / complex / reaction
 ENSG00000115415 STAT1 / P42224 / signal transducer and activator of transcription 1  / reaction
 ENSG00000096968 JAK2 / O60674 / Janus kinase 2  / reaction
 ENSG00000027697 IFNGR1 / P15260 / interferon gamma receptor 1  / reaction
 ENSG00000111537 IFNG / P01579 / interferon gamma  / reaction
 ENSG00000070808 CAMK2A / Q9UQM7 / calcium/calmodulin dependent protein kinase II alpha  / reaction / complex
 ENSG00000185122 HSF1 / Q00613 / heat shock transcription factor 1  / reaction
 ENSG00000176884 GRIN1 / Q05586 / glutamate ionotropic receptor NMDA type subunit 1  / complex / reaction
 ENSG00000118260 CREB1 / P16220 / cAMP responsive element binding protein 1  / reaction
 ENSG00000174775 HRAS / P01112 / HRas proto-oncogene, GTPase  / reaction
 ENSG00000273079 GRIN2B / Q13224 / glutamate ionotropic receptor NMDA type subunit 2B  / complex / reaction
 ENSG00000162434 JAK1 / P23458 / Janus kinase 1  / reaction
 ENSG00000198668 CALM1 / P0DP23 / calmodulin 1  / complex / reaction
 ENSG00000159128 IFNGR2 / P38484 / interferon gamma receptor 2  / reaction
 ENSG00000077522 ACTN2 / P35609 / actinin alpha 2  / complex / reaction
 ENSG00000157764 BRAF / P15056 / B-Raf proto-oncogene, serine/threonine kinase  / reaction
 ENSG00000075711 DLG1 / Q12959 / discs large MAGUK scaffold protein 1  / complex / reaction
 ENSG00000135341 MAP3K7 / O43318 / mitogen-activated protein kinase kinase kinase 7  / reaction / complex
 ENSG00000058335 Q13972 / RASGRF1 / Ras protein specific guanine nucleotide releasing factor 1  / reaction / complex
 ENSG00000125675 GRIA3 / P42263 / glutamate ionotropic receptor AMPA type subunit 3  / reaction






 

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