The product of this gene is one of the four subunits of an enzyme which belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells the enzyme is composed of four different chains: alpha, beta, gamma, and delta.... See more...

Aliases for CAMK2G Gene

Aliases for CAMK2G Gene

  • Calcium/Calmodulin Dependent Protein Kinase II Gamma 2 3 5
  • Calcium/Calmodulin-Dependent Protein Kinase (CaM Kinase) II Gamma 2 3
  • Calcium/Calmodulin-Dependent Protein Kinase Type II Subunit Gamma 3 4
  • CaMK-II Subunit Gamma 3 4
  • EC 2.7.11.17 4 51
  • CAMK-II 3 4
  • CAMKG 3 4
  • CAMK 3 4
  • CaM Kinase II Subunit Gamma 4
  • EC 2.7.11 51
  • CAMK2G 5
  • MRD59 3

External Ids for CAMK2G Gene

Previous HGNC Symbols for CAMK2G Gene

  • CAMKG

Previous GeneCards Identifiers for CAMK2G Gene

  • GC10M074352
  • GC10M074675
  • GC10M075464
  • GC10M074916
  • GC10M075242
  • GC10M075572
  • GC10M069567

Summaries for CAMK2G Gene

Entrez Gene Summary for CAMK2G Gene

  • The product of this gene is one of the four subunits of an enzyme which belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a gamma chain. Many alternatively spliced transcripts encoding different isoforms have been described but the full-length nature of all the variants has not been determined.[provided by RefSeq, Mar 2011]

GeneCards Summary for CAMK2G Gene

CAMK2G (Calcium/Calmodulin Dependent Protein Kinase II Gamma) is a Protein Coding gene. Diseases associated with CAMK2G include Intellectual Developmental Disorder 59 and Timothy Syndrome. 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 CAMK2B.

UniProtKB/Swiss-Prot Summary for CAMK2G Gene

  • Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in sarcoplasmic reticulum Ca(2+) transport in skeletal muscle and may function in dendritic spine and synapse formation and neuronal plasticity. In slow-twitch muscles, is involved in regulation of sarcoplasmic reticulum (SR) Ca(2+) transport and in fast-twitch muscle participates in the control of Ca(2+) release from the SR through phosphorylation of the ryanodine receptor-coupling factor triadin. In the central nervous system, it is involved in the regulation of neurite formation and arborization (PubMed:30184290). It may participate in the promotion of dendritic spine and synapse formation and maintenance of synaptic plasticity which enables long-term potentiation (LTP) and hippocampus-dependent learning.

Tocris Summary for CAMK2G 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 CAMK2G Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CAMK2G Gene

Genomics for CAMK2G Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CAMK2G Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CAMK2G on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CAMK2G

Top Transcription factor binding sites by QIAGEN in the CAMK2G gene promoter:
  • STAT3

Genomic Locations for CAMK2G Gene

Genomic Locations for CAMK2G Gene
chr10:73,812,501-73,874,591
(GRCh38/hg38)
Size:
62,091 bases
Orientation:
Minus strand
chr10:75,572,259-75,634,349
(GRCh37/hg19)
Size:
62,091 bases
Orientation:
Minus strand

Genomic View for CAMK2G Gene

Genes around CAMK2G on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAMK2G Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAMK2G Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAMK2G Gene

Proteins for CAMK2G Gene

  • Protein details for CAMK2G Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13555-KCC2G_HUMAN
    Recommended name:
    Calcium/calmodulin-dependent protein kinase type II subunit gamma
    Protein Accession:
    Q13555
    Secondary Accessions:
    • A0A0A0MS52
    • A0A0A0MT11
    • O00561
    • O15378
    • Q13279
    • Q13282
    • Q13556
    • Q5SQZ3
    • Q5SQZ4
    • Q5SWX4
    • Q7KYX5
    • Q8N4I3
    • Q8NIA4

    Protein attributes for CAMK2G Gene

    Size:
    558 amino acids
    Molecular mass:
    62607 Da
    Quaternary structure:
    • CAMK2 is composed of 4 different chains: alpha (CAMK2A), beta (CAMK2B), gamma (CAMK2G), and delta (CAMK2D). The different isoforms assemble into homo- or heteromultimeric holoenzymes composed of 12 subunits with two hexameric rings stacked one on top of the other.
    SequenceCaution:
    • Sequence=AAB61379.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CAMK2G Gene

    Alternative splice isoforms for CAMK2G Gene

neXtProt entry for CAMK2G Gene

Selected DME Specific Peptides for CAMK2G Gene

Q13555:
  • WACGVILYILLVGYPPFWDEDQH
  • TVASMMHRQETV
  • YTKICDP
  • NNGDFEAY
  • KGAAVKLADFGLAIEV
  • NIVRLHD
  • YGKPVDIWA
  • HYLVFDLVTGGELFEDIVARE
  • GVILYIL
  • FPSPEWD
  • RNFSAAKSLL
  • QAWFGFAGTPGYLSPEVL
  • WACGVIL
  • LIEAINNG
  • FEPEALGNLVEG
  • QILESVNH
  • VHRDLKPENLLLASK
  • VKLADFG
  • VTGGELF
  • GVKKRKSSSSV
  • TEQLIEA
  • MLTINPAKRI
  • QIKAGAYD
  • PYGKPVD
  • PSPEWDTVTPEAKNLINQMLT
  • LADFGLA
  • QSEETRVWH
  • DFHKFYFEN
  • DAACIAYIRLTQY
  • RKQEIIK
  • LKPENLL
  • RDLKPEN
  • GKGAFSVVRRC
  • AAKIINTKKL
  • TCTRFTD
  • EELGKGAFS
  • FNARRKL
  • NIVRLHDSISEEG
  • QKLEREARICR
  • VHRDLKP
  • IVHRDLK

Post-translational modifications for CAMK2G Gene

  • Autophosphorylation of Thr-287 following activation by Ca(2+)/calmodulin. Phosphorylation of Thr-287 locks the kinase into an activated state.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for CAMK2G Gene

Gene Families for CAMK2G Gene

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

Protein Domains for CAMK2G Gene

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

Suggested Antigen Peptide Sequences for CAMK2G Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ38257 fis, clone FCBBF3001235, highly similar to Calcium/calmodulin-dependent protein kinase type II gamma chain (EC 2.7.11.17) (B3KTH7_HUMAN)
  • cDNA FLJ52939, moderately similar to Calcium/calmodulin-dependent protein kinasetype II gamma chain (EC 2.7.11.17) (B4DVQ3_HUMAN)
  • Calcium/calmodulin-dependent protein kinase type II subunit gamma (KCC2G_HUMAN)
  • Calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma (Q8WU40_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13555

UniProtKB/Swiss-Prot:

KCC2G_HUMAN :
  • The CAMK2 protein kinases contain a unique C-terminal subunit association domain responsible for oligomerization.
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily.
Domain:
  • The CAMK2 protein kinases contain a unique C-terminal subunit association domain responsible for oligomerization.
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily.
genes like me logo Genes that share domains with CAMK2G: view

Function for CAMK2G Gene

Molecular function for CAMK2G Gene

UniProtKB/Swiss-Prot Function:
Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in sarcoplasmic reticulum Ca(2+) transport in skeletal muscle and may function in dendritic spine and synapse formation and neuronal plasticity. In slow-twitch muscles, is involved in regulation of sarcoplasmic reticulum (SR) Ca(2+) transport and in fast-twitch muscle participates in the control of Ca(2+) release from the SR through phosphorylation of the ryanodine receptor-coupling factor triadin. In the central nervous system, it is involved in the regulation of neurite formation and arborization (PubMed:30184290). It may participate in the promotion of dendritic spine and synapse formation and maintenance of synaptic plasticity which enables long-term potentiation (LTP) and hippocampus-dependent learning.
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;.
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;.
UniProtKB/Swiss-Prot Induction:
Activity is induced in skeletal muscle during exercise.
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-287 which turns the kinase in a constitutively active form and confers to the kinase a Ca(2+)-independent activity.
GENATLAS Biochemistry:
protein kinase,calcium/calmodulin dependent,gammasubunit with several isoforms

Enzyme Numbers (IUBMB) for CAMK2G Gene

Phenotypes From GWAS Catalog for CAMK2G Gene

Gene Ontology (GO) - Molecular Function for CAMK2G 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 IEA --
GO:0004683 calmodulin-dependent protein kinase activity IBA 21873635
GO:0004723 calcium-dependent protein serine/threonine phosphatase activity NAS 9060999
genes like me logo Genes that share ontologies with CAMK2G: view
genes like me logo Genes that share phenotypes with CAMK2G: view

Human Phenotype Ontology for CAMK2G Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CAMK2G Gene

MGI Knock Outs for CAMK2G:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAMK2G

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for CAMK2G Gene

Localization for CAMK2G Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAMK2G Gene

Sarcoplasmic reticulum membrane. Peripheral membrane protein. Cytoplasmic side.

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 CAMK2G gene
Compartment Confidence
cytosol 5
nucleus 4
endoplasmic reticulum 4
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1
lysosome 1
golgi apparatus 1

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 CAMK2G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0005954 calcium- and calmodulin-dependent protein kinase complex IDA 20668654
GO:0014069 postsynaptic density IEA --
genes like me logo Genes that share ontologies with CAMK2G: view

Pathways & Interactions for CAMK2G Gene

PathCards logo

SuperPathways for CAMK2G 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 CAMK2G: view

Pathways by source for CAMK2G Gene

18 GeneGo (Thomson Reuters) pathways for CAMK2G 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 CAMK2G Gene
18 Qiagen pathways for CAMK2G 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 CAMK2G Gene
1 GeneTex pathway for CAMK2G Gene

SIGNOR curated interactions for CAMK2G Gene

Activates:
Inactivates:
Other effect:

Gene Ontology (GO) - Biological Process for CAMK2G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle IEA --
GO:0006468 protein phosphorylation IEA --
GO:0006470 protein dephosphorylation IEA --
GO:0006816 calcium ion transport IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with CAMK2G: view

Drugs & Compounds for CAMK2G Gene

(85) Drugs for CAMK2G Gene - From: DrugBank, ApexBio, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
bosutinib Approved Pharma Target, inhibitor Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 0
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
1-tert-butyl-3-(3-methylbenzyl)-1H-pyrazolo[3,4-d]pyrimidin-4-amine Experimental Pharma Target 0
Autocamtide-2-related inhibitory peptide Pharma inhibitor of calmodulin-dependent protein kinase II (CaM-kinase II, CaMKII) 0
KN-62 Pharma CaM kinase II inhibitor 0

(40) Additional Compounds for CAMK2G Gene - From: Novoseek and Tocris

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

(4) Tocris Compounds for CAMK2G 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 CAMK2G 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 CAMK2G: view

Drug Products

Transcripts for CAMK2G Gene

mRNA/cDNA for CAMK2G Gene

42 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
14 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 CAMK2G

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CAMK2G Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^
SP1: - - - - - - - -
SP2: - - - -
SP3: - - - - - - - -
SP4: - - -
SP5: - - - -
SP6:
SP7:
SP8: - -
SP9: -
SP10: - -
SP11:

ExUns: 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24a · 24b · 24c ^ 25a · 25b ^ 26a · 26b
SP1: - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: - - - - - -
SP6: - - -
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for CAMK2G Gene

GeneLoc Exon Structure for
CAMK2G

Expression for CAMK2G Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CAMK2G Gene

Protein differential expression in normal tissues from HIPED for CAMK2G Gene

This gene is overexpressed in Brain (20.4), Heart (7.1), Frontal cortex (7.0), and Adrenal (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CAMK2G Gene



Protein tissue co-expression partners for CAMK2G Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CAMK2G

SOURCE GeneReport for Unigene cluster for CAMK2G Gene:

Hs.523045

mRNA Expression by UniProt/SwissProt for CAMK2G Gene:

Q13555-KCC2G_HUMAN
Tissue specificity: Expressed in skeletal muscle.

Evidence on tissue expression from TISSUES for CAMK2G Gene

  • Nervous system(5)
  • Liver(4.3)
  • Lung(2.8)
  • Pancreas(2.6)
  • Intestine(2.6)
  • Eye(2.6)
  • Muscle(2.6)
  • Heart(2.4)
genes like me logo Genes that share expression patterns with CAMK2G: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CAMK2G Gene

Orthologs for CAMK2G Gene

This gene was present in the common ancestor of animals.

Orthologs for CAMK2G Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CAMK2G 30 31
  • 99.77 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CAMK2G 30 31
  • 95.74 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CAMK2G 30 31
  • 95.49 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CAMK2G 31
  • 95 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Camk2g 30 17 31
  • 94.21 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Camk2g 30
  • 92.95 (n)
Oppossum
(Monodelphis domestica)
Mammalia CAMK2G 31
  • 90 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CAMK2G 30 31
  • 82.74 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CAMK2G 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia camk2g 30
  • 81.04 (n)
Str.15647 30
African clawed frog
(Xenopus laevis)
Amphibia camk2g-prov 30
Zebrafish
(Danio rerio)
Actinopterygii camk2g1 30 31
  • 76.56 (n)
OneToMany
CAMK2G (1 of 2) 31
  • 72 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5109 30
Fruit Fly
(Drosophila melanogaster)
Insecta CaMKII 31
  • 73 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea unc-43 31
  • 49 (a)
OneToMany
Species where no ortholog for CAMK2G was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Rice (Oryza sativa)
  • 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 CAMK2G Gene

ENSEMBL:
Gene Tree for CAMK2G (if available)
TreeFam:
Gene Tree for CAMK2G (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CAMK2G: view image

Paralogs for CAMK2G Gene

(49) SIMAP similar genes for CAMK2G Gene using alignment to 6 proteins:

  • KCC2G_HUMAN
  • B3KTH7_HUMAN
  • B4DVQ3_HUMAN
  • H0Y6G2_HUMAN
  • Q5SWX3_HUMAN
  • Q8WU40_HUMAN
genes like me logo Genes that share paralogs with CAMK2G: view

Variants for CAMK2G Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CAMK2G Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
638296 Uncertain Significance: not provided 73,847,325(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
873494 Uncertain Significance: CAMK2G-related syndromic intellectual disability 73,816,870(-) C/T MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs397514627 Likely Pathogenic: Autistic disorder of childhood onset; Global developmental delay; Generalized hypotonia; Intellectual disability, severe. Intellectual developmental disorder 59 (MRD59) [MIM:618522] 73,842,486(-) C/Gp.Arg292Pro MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs772531683 Not Provided: not provided 73,852,309(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs17853266 - p.Ser36Pro

Additional dbSNP identifiers (rs#s) for CAMK2G Gene

Structural Variations from Database of Genomic Variants (DGV) for CAMK2G Gene

Variant ID Type Subtype PubMed ID
dgv1264n54 CNV loss 21841781
dgv46n21 CNV loss 19592680
dgv479n106 CNV deletion 24896259
esv21502 CNV loss 19812545
nsv1035634 CNV gain 25217958
nsv1070876 CNV deletion 25765185
nsv1145470 CNV deletion 24896259
nsv551516 CNV loss 21841781
nsv551517 CNV loss 21841781
nsv551518 CNV loss 21841781
nsv551521 CNV gain 21841781
nsv551523 CNV loss 21841781
nsv551526 CNV loss 21841781
nsv7154 CNV insertion 18451855
nsv825468 CNV gain 20364138
nsv831912 CNV gain 17160897

Variation tolerance for CAMK2G Gene

Residual Variation Intolerance Score: 10.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.54; 11.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CAMK2G Gene

Human Gene Mutation Database (HGMD)
CAMK2G
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAMK2G

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAMK2G Gene

Disorders for CAMK2G Gene

MalaCards: The human disease database

(7) MalaCards diseases for CAMK2G Gene - From: UniProtKB/Swiss-Prot, OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
intellectual developmental disorder 59
  • mrd59
timothy syndrome
  • ts
waisman syndrome
  • wsmn
exudative vitreoretinopathy
  • exudative vitreoretinopathy 1
usher syndrome
  • retinitis pigmentosa-deafness syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

KCC2G_HUMAN
  • Intellectual developmental disorder 59 (MRD59) [MIM:618522]: An autosomal dominant 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:23033978, ECO:0000269 PubMed:30184290}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CAMK2G

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 CAMK2G: view

No data available for Genatlas for CAMK2G Gene

Publications for CAMK2G Gene

  1. Identification of novel human tumor cell-specific CaMK-II variants. (PMID: 9060999) Tombes RM … Krystal GW (Biochimica et biophysica acta 1997) 3 4 23
  2. The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function. (PMID: 30184290) Proietti Onori M … van Woerden GM (Human mutation 2018) 3 4
  3. Structure of the CaMKIIdelta/calmodulin complex reveals the molecular mechanism of CaMKII kinase activation. (PMID: 20668654) Rellos P … Knapp S (PLoS biology 2010) 3 4
  4. Regulation of CaMKII by phospho-Thr253 or phospho-Thr286 sensitive targeting alters cellular function. (PMID: 20060891) Skelding KA … Rostas JA (Cellular signalling 2010) 3 23
  5. Molecular interaction and functional regulation of ClC-3 by Ca2+/calmodulin-dependent protein kinase II (CaMKII) in human malignant glioma. (PMID: 20139089) Cuddapah VA … Sontheimer H (The Journal of biological chemistry 2010) 3 23

Products for CAMK2G Gene