The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded b... See more...

Aliases for CAMK2A Gene

Aliases for CAMK2A Gene

  • Calcium/Calmodulin Dependent Protein Kinase II Alpha 2 3 5
  • Calcium/Calmodulin-Dependent Protein Kinase (CaM Kinase) II Alpha 2 3
  • Calcium/Calmodulin-Dependent Protein Kinase Type II Subunit Alpha 3 4
  • Calcium/Calmodulin-Dependent Protein Kinase Type II Alpha Chain 2 3
  • Calcium/Calmodulin-Dependent Protein Kinase II Alpha-B Subunit 2 3
  • CaM Kinase II Alpha Subunit 2 3
  • CaM Kinase II Subunit Alpha 3 4
  • CaM-Kinase II Alpha Chain 2 3
  • CaMK-II Alpha Subunit 2 3
  • CaMK-II Subunit Alpha 3 4
  • CaMKIINalpha 2 3
  • EC 2.7.11.17 4 51
  • KIAA0968 2 4
  • CAMKA 3 4
  • CaMKIIalpha 3
  • EC 2.7.11 51
  • CaMKIIα 2
  • CAMK2A 5
  • MRD53 3
  • MRT63 3

External Ids for CAMK2A Gene

Previous HGNC Symbols for CAMK2A Gene

  • CAMKA

Previous GeneCards Identifiers for CAMK2A Gene

  • GC05M149669
  • GC05P150272
  • GC05M149582
  • GC05M149627
  • GC05M149579
  • GC05M144747

Summaries for CAMK2A Gene

Entrez Gene Summary for CAMK2A Gene

  • The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2018]

GeneCards Summary for CAMK2A Gene

CAMK2A (Calcium/Calmodulin Dependent Protein Kinase II Alpha) is a Protein Coding gene. Diseases associated with CAMK2A include Mental Retardation, Autosomal Recessive 63 and Mental Retardation, Autosomal Dominant 53. Among its related pathways are Neuroscience and Translation Translation regulation by Alpha-1 adrenergic receptors. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is CAMK2D.

UniProtKB/Swiss-Prot Summary for CAMK2A Gene

  • Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in synaptic plasticity, neurotransmitter release and long-term potentiation. Member of the NMDAR signaling complex in excitatory synapses, it regulates NMDAR-dependent potentiation of the AMPAR and therefore excitatory synaptic transmission (By similarity). Regulates dendritic spine development (PubMed:28130356). Also regulates the migration of developing neurons (PubMed:29100089). Phosphorylates the transcription factor FOXO3 to activate its transcriptional activity (PubMed:23805378).

Tocris Summary for CAMK2A Gene

  • Calmodulin-dependent kinases (CaMK) are a family of serine/threonine kinases that mediate many of the second messenger effects of Ca2+. At basal Ca2+ levels, CaMKs are maintained in a dormant state through autoinhibition, which can be relieved by increases in Ca2+ levels.

Gene Wiki entry for CAMK2A Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CAMK2A Gene

Genomics for CAMK2A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CAMK2A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J150288 Promoter/Enhancer 1 FANTOM5 Ensembl dbSUPER 603.2 +1.2 1190 1 RFX1 ZSCAN4 POLR2A RAD21 ZNF316 MAFK ZNF18 SIN3A GLIS1 CAMK2A lnc-ARSI-3 GM2A SLC6A7 SYNPO HSALNG0045812
GH05J150289 Promoter/Enhancer 0.8 EPDnew dbSUPER 600.7 +0.5 498 0.1 RFX1 POLR2A CTBP1 SIN3A KDM1A CHD2 CAMK2A lnc-ARSI-3 SLC6A7
GH05J150133 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.3 +148.7 148677 15.5 HNRNPL CREB1 GATAD2A ZBTB33 ATF7 PRDM10 TFE3 LEF1 SOX13 IKZF1 CDX1 SLC6A7 CSF1R TCOF1 CAMK2A PDGFRB RPS14 SYNPO lnc-CSF1R-3 lnc-PDGFRB-1
GH05J150316 Enhancer 1.7 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 -29.9 -29855 8 CEBPG HNRNPL CREB1 GATAD2A ATF7 PRDM10 ZNF629 ZNF692 JUND PRDM1 lnc-CAMK2A-1 PDGFRB CAMK2A TCOF1 SLC6A7 CDX1 CSF1R SYNPO ARSI
GH05J150244 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.4 +44.0 44044 3.7 NRF1 E2F5 NR2C2 MEF2D MNT NR2F2 ZNF644 NR2F1 RCOR1 ZNF584 CAMK2A HSALNG0045812 lnc-ARSI-3 SLC6A7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CAMK2A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CAMK2A

Top Transcription factor binding sites by QIAGEN in the CAMK2A gene promoter:
  • AREB6
  • ER-alpha
  • HOXA9
  • HOXA9B
  • ITF-2
  • Nkx2-5
  • Pax-5
  • Tal-1beta

Genomic Locations for CAMK2A Gene

Genomic Locations for CAMK2A Gene
chr5:150,219,491-150,290,291
(GRCh38/hg38)
Size:
70,801 bases
Orientation:
Minus strand
chr5:149,599,054-149,669,854
(GRCh37/hg19)
Size:
70,801 bases
Orientation:
Minus strand

Genomic View for CAMK2A Gene

Genes around CAMK2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAMK2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAMK2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAMK2A Gene

Proteins for CAMK2A Gene

  • Protein details for CAMK2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQM7-KCC2A_HUMAN
    Recommended name:
    Calcium/calmodulin-dependent protein kinase type II subunit alpha
    Protein Accession:
    Q9UQM7
    Secondary Accessions:
    • Q9UL21
    • Q9Y2H4
    • Q9Y352

    Protein attributes for CAMK2A Gene

    Size:
    478 amino acids
    Molecular mass:
    54088 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • There are 4 genes encoding calcium/calmodulin-dependent protein kinase type II chains: CAMK2A, CAMK2B, CAMK2G and CAMK2D. The corresponding proteins assemble into homo- or heteromultimeric holoenzymes composed of 12 subunits with two hexameric rings stacked one on top of the other (PubMed:14722083, PubMed:29784083). Interacts with BAALC. Interacts with MPDZ. Interacts with SYN1. Interacts with CAMK2N2. Interacts with SYNGAP1. Interacts with SYNPO2 (By similarity). Interacts with SHANK3 (PubMed:28130356). Interacts with GRIN2B (PubMed:28130356). Interacts with CACNB2 (PubMed:28130356). Interacts with LRRC7 (PubMed:28130356). Interacts with GRM5 (PubMed:28130356).
    SequenceCaution:
    • Sequence=BAA76812.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CAMK2A Gene

    Alternative splice isoforms for CAMK2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CAMK2A Gene

Selected DME Specific Peptides for CAMK2A Gene

Q9UQM7:
  • WACGVILYILLVGYPPFWDEDQH
  • CLKKFNARRKLKGAILTT
  • NIVRLHD
  • KGAAVKLADFGLAIEV
  • GVILYIL
  • FPSPEWD
  • QAWFGFAGTPGYLSPEVL
  • WACGVIL
  • FEPEALGNLVEG
  • VTGGELF
  • VKLADFG
  • VHRDLKPENLLLASK
  • YSEADASHCIQQILE
  • TEQLIEA
  • VVHRDLK
  • QIKAGAYD
  • EALKHPWI
  • TTIEDED
  • PEAKDLI
  • PYGKPVD
  • LADFGLA
  • QSEETRVWH
  • HFHRSGAPSV
  • DFHRFYFEN
  • RKQEIIK
  • LKPENLL
  • RDLKPEN
  • GKGAFSVVRRC
  • AAKIINTKKL
  • EELGKGAFS
  • FNARRKL
  • NIVRLHDSISEEG
  • QKLEREARICR
  • VHRDLKP

Post-translational modifications for CAMK2A Gene

  • Autophosphorylation of Thr-286 following activation by Ca(2+)/calmodulin. Phosphorylation of Thr-286 locks the kinase into an activated state.
  • Palmitoylated. Probably palmitoylated by ZDHHC3 and ZDHHC7.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for CAMK2A Gene

Gene Families for CAMK2A Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CAMK2A Gene

InterPro:
Blocks:
  • Calcium/calmodulin dependent protein kinase II, association-domain
ProtoNet:

Suggested Antigen Peptide Sequences for CAMK2A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ75193, highly similar to Homo sapiens calcium/calmodulin-dependent protein kinase II alpha-B subunit mRNA (A8K161_HUMAN)
  • Calcium/calmodulin-dependent protein kinase type II subunit alpha (KCC2A_HUMAN)
  • Ca2+/calmodulin-dependent protein kinase II alpha subunit (Q27I69_HUMAN)
  • Calmodulin-dependent protein kinase II alpha (Q7LDD5_HUMAN)
  • Calcium/calmodulin-dependent protein kinase II alpha (Q8IWE0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UQM7

UniProtKB/Swiss-Prot:

KCC2A_HUMAN :
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily.
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily.
genes like me logo Genes that share domains with CAMK2A: view

Function for CAMK2A Gene

Molecular function for CAMK2A Gene

UniProtKB/Swiss-Prot Function:
Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in synaptic plasticity, neurotransmitter release and long-term potentiation. Member of the NMDAR signaling complex in excitatory synapses, it regulates NMDAR-dependent potentiation of the AMPAR and therefore excitatory synaptic transmission (By similarity). Regulates dendritic spine development (PubMed:28130356). Also regulates the migration of developing neurons (PubMed:29100089). Phosphorylates the transcription factor FOXO3 to activate its transcriptional activity (PubMed:23805378).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.17; Evidence={ECO:0000269|PubMed:23805378};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.17; Evidence={ECO:0000269|PubMed:23805378};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by Ca(2+)/calmodulin. Binding of calmodulin results in conformational change that relieves intrasteric autoinhibition and allows autophosphorylation of Thr-286 which turns the kinase in a constitutively active form and confers to the kinase a Ca(2+)-independent activity.

Enzyme Numbers (IUBMB) for CAMK2A Gene

Phenotypes From GWAS Catalog for CAMK2A Gene

Gene Ontology (GO) - Molecular Function for CAMK2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity ISS --
GO:0004683 calmodulin-dependent protein kinase activity IBA,IMP 18305109
GO:0005515 protein binding IPI 17052756
genes like me logo Genes that share ontologies with CAMK2A: view
genes like me logo Genes that share phenotypes with CAMK2A: view

Human Phenotype Ontology for CAMK2A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CAMK2A Gene

MGI Knock Outs for CAMK2A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAMK2A

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for CAMK2A Gene

Localization for CAMK2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAMK2A Gene

Cell junction, synapse. Cell junction, synapse, postsynaptic density. Cell projection, dendritic spine. Cell projection, dendrite. Note=Postsynaptic lipid rafts. {ECO:0000250 UniProtKB:P11275}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CAMK2A gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 4
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CAMK2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion ISS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CAMK2A: view

Pathways & Interactions for CAMK2A Gene

PathCards logo

SuperPathways for CAMK2A Gene

SuperPathway Contained pathways
1 RET signaling
2 Post NMDA receptor activation events
3 Development Angiotensin activation of ERK
.73
.73
.68
.65
.45
.40
4 Development Endothelin-1/EDNRA signaling
.41
.41
.41
5 Aldosterone synthesis and secretion
genes like me logo Genes that share pathways with CAMK2A: view

Pathways by source for CAMK2A Gene

18 GeneGo (Thomson Reuters) pathways for CAMK2A Gene
  • Cell adhesion Integrin inside-out signaling
  • Cytoskeleton remodeling FAK signaling
  • Development ACM2 and ACM4 activation of ERK
  • Development Activation of ERK by Alpha-1 adrenergic receptors
  • Development Alpha-2 adrenergic receptor activation of ERK
2 R&D Systems pathways for CAMK2A Gene
18 Qiagen pathways for CAMK2A Gene
  • Activation of cAMP-Dependent PKA
  • Alpha-Adrenergic Signaling
  • Breast Cancer Regulation by Stathmin1
  • cAMP Pathway
  • CD28 Signaling in T-Helper Cell
2 Cell Signaling Technology pathways for CAMK2A Gene
1 GeneTex pathway for CAMK2A Gene

SIGNOR curated interactions for CAMK2A Gene

Gene Ontology (GO) - Biological Process for CAMK2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle ISS --
GO:0002931 response to ischemia ISS --
GO:0006468 protein phosphorylation IEA,IMP 18305109
GO:0006816 calcium ion transport ISS --
GO:0007223 Wnt signaling pathway, calcium modulating pathway TAS --
genes like me logo Genes that share ontologies with CAMK2A: view

Drugs & Compounds for CAMK2A Gene

(15) Drugs for CAMK2A Gene - From: DrugBank, ApexBio, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
(2Z,3E)-2,3'-biindole-2',3(1H,1'H)-dione 3-{O-[(3R)-3,4-dihydroxybutyl]oxime} Experimental Pharma Target 0
1,4-Dithiothreitol Experimental Pharma Target 0
Hexatantalum Dodecabromide Experimental Pharma Target 0
Autocamtide-2-related inhibitory peptide Pharma inhibitor of calmodulin-dependent protein kinase II (CaM-kinase II, CaMKII) 0

(5) Additional Compounds for CAMK2A Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Autocamtide-2-related inhibitory peptide, myristoylated
201422-04-0
KN 93
139298-40-1

(4) Tocris Compounds for CAMK2A Gene

Compound Action Cas Number
A 484954 CaM kinase III (eEF-2 kinase) inhibitor 142557-61-7
Autocamtide-2-related inhibitory peptide, myristoylated CaM kinase II inhibitor; enhanced cell permeable derivative of Autocamtide-2-related inhibitory peptide 201422-04-0
KN 93 CaM kinase II inhibitor; also K+ channel blocker (KV) 139298-40-1
NH 125 CaM kinase III (eEF-2 kinase) inhibitor 278603-08-0

(7) ApexBio Compounds for CAMK2A Gene

Compound Action Cas Number
Autocamtide-2-related inhibitory peptide inhibitor of calmodulin-dependent protein kinase II (CaM-kinase II, CaMKII) 167114-91-2
KN-62 CaM kinase II inhibitor 127191-97-3
KN-92 CaMKII inhibitor 176708-42-2
KN-92 phosphate CaMKII inhibitor 1135280-28-2
KN-93 CaMKII inhibitor,selective and cometitive 139298-40-1
KN-93 hydrochloride CaMK II inhibitor
KN-93 Phosphate CaM kinase II inhibitor, water soluble and cell permeable 1188890-41-6
genes like me logo Genes that share compounds with CAMK2A: view

Drug Products

Transcripts for CAMK2A Gene

mRNA/cDNA for CAMK2A Gene

5 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAMK2A

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CAMK2A Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - - - -
SP2: - - -
SP3:
SP4: - - - -
SP5: - - -
SP6: -
SP7: -

ExUns: 20 ^ 21
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for CAMK2A Gene

GeneLoc Exon Structure for
CAMK2A

Expression for CAMK2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CAMK2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CAMK2A Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x11.0), Brain - Cortex (x9.0), Brain - Anterior cingulate cortex (BA24) (x8.9), Brain - Hippocampus (x7.7), and Brain - Amygdala (x6.0).

Protein differential expression in normal tissues from HIPED for CAMK2A Gene

This gene is overexpressed in Brain (37.5) and Frontal cortex (26.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CAMK2A Gene



Protein tissue co-expression partners for CAMK2A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CAMK2A

SOURCE GeneReport for Unigene cluster for CAMK2A Gene:

Hs.743976

Evidence on tissue expression from TISSUES for CAMK2A Gene

  • Nervous system(5)
  • Muscle(2.7)
  • Heart(2.2)
  • Blood(2.1)
  • Skin(2)
genes like me logo Genes that share expression patterns with CAMK2A: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CAMK2A Gene

Orthologs for CAMK2A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CAMK2A Gene

Organism Taxonomy Gene Similarity Type Details
Oppossum
(Monodelphis domestica)
Mammalia CAMK2A 31
  • 99 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia CAMK2A 30 31
  • 98.51 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CAMK2A 30 31
  • 93.93 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Camk2a 30
  • 93.38 (n)
Mouse
(Mus musculus)
Mammalia Camk2a 30 17 31
  • 93.03 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CAMK2A 31
  • 93 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CAMK2A 30 31
  • 92.91 (n)
OneToOne
Chicken
(Gallus gallus)
Aves CAMK2A 30 31
  • 86.61 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CAMK2A 31
  • 94 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia camk2a 30
  • 79.69 (n)
Zebrafish
(Danio rerio)
Actinopterygii camk2a 30 31
  • 81.02 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CaMKII 31 32
  • 69 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea unc-43 31
  • 48 (a)
OneToMany
Rice
(Oryza sativa)
Liliopsida Os11g0136600 30
  • 49.95 (n)
Species where no ortholog for CAMK2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CAMK2A Gene

ENSEMBL:
Gene Tree for CAMK2A (if available)
TreeFam:
Gene Tree for CAMK2A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CAMK2A: view image

Paralogs for CAMK2A Gene

(60) SIMAP similar genes for CAMK2A Gene using alignment to 8 proteins:

  • KCC2A_HUMAN
  • A8K161_HUMAN
  • D6RFJ0_HUMAN
  • D6RHX9_HUMAN
  • L8ECG5_HUMAN
  • Q27I69_HUMAN
  • Q7LDD5_HUMAN
  • Q8IWE0_HUMAN
genes like me logo Genes that share paralogs with CAMK2A: view

Variants for CAMK2A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CAMK2A Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
666572 Likely Pathogenic: Intellectual disability, autosomal dominant 53 150,289,577(-) C/T MISSENSE_VARIANT
734965 Benign: not provided 150,256,792(-) C/T SYNONYMOUS_VARIANT
794576 Likely Benign: not provided 150,223,150(-) G/A SYNONYMOUS_VARIANT
870767 Likely Benign: not provided 150,223,153(-) G/A SYNONYMOUS_VARIANT
870768 Likely Pathogenic: not provided 150,247,813(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CAMK2A Gene

Structural Variations from Database of Genomic Variants (DGV) for CAMK2A Gene

Variant ID Type Subtype PubMed ID
esv2675470 CNV deletion 23128226
esv2730912 CNV deletion 23290073
esv2730913 CNV deletion 23290073
esv2763509 CNV gain 21179565
esv3890752 CNV loss 25118596
nsv1137037 CNV deletion 24896259
nsv1140580 CNV deletion 24896259
nsv479095 CNV novel sequence insertion 20440878
nsv524540 CNV loss 19592680
nsv525244 CNV loss 19592680

Variation tolerance for CAMK2A Gene

Residual Variation Intolerance Score: 15.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.06; 1.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CAMK2A Gene

Human Gene Mutation Database (HGMD)
CAMK2A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAMK2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAMK2A Gene

Disorders for CAMK2A Gene

MalaCards: The human disease database

(10) MalaCards diseases for CAMK2A Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

KCC2A_HUMAN
  • Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:25533962, ECO:0000269 PubMed:28130356, ECO:0000269 PubMed:29100089, ECO:0000269 PubMed:29560374}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mental retardation, autosomal recessive 63 (MRT63) [MIM:618095]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT63 patients manifest global developmental delay, severe intellectual disability, and seizures. {ECO:0000269 PubMed:29784083}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CAMK2A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CAMK2A: view

No data available for Genatlas for CAMK2A Gene

Publications for CAMK2A Gene

  1. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4
  2. A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability. (PMID: 29784083) Chia PH … Reversade B (eLife 2018) 3 4
  3. De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders. (PMID: 29560374) Akita T … Saitsu H (Annals of clinical and translational neurology 2018) 3 4
  4. A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors. (PMID: 28130356) Stephenson JR … Colbran RJ (The Journal of neuroscience : the official journal of the Society for Neuroscience 2017) 3 4
  5. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. (PMID: 29100089) Küry S … Mercier S (American journal of human genetics 2017) 3 4

Products for CAMK2A Gene

Sources for CAMK2A Gene