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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
  • CaMK-II Subunit Gamma 3 4
  • EC 2.7.11.17 4 58
  • CAMK-II 3 4
  • CAMKG 3 4
  • CAMK 3 4
  • Calcium/Calmodulin-Dependent Protein Kinase Type II Subunit Gamma 3
  • CaM Kinase II Subunit Gamma 4
  • EC 2.7.11 58

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 Timothy Syndrome and Exudative Vitreoretinopathy. Among its related pathways are Calcium signaling pathway and RET signaling. 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 for CAMK2G Gene

  • Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in sarcoplsamic 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 neurons, 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

Additional gene information for CAMK2G Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAMK2G Gene

Genomics for CAMK2G Gene

Regulatory Elements for CAMK2G Gene

Enhancers for CAMK2G Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H073964 2.4 VISTA FANTOM5 Ensembl ENCODE dbSUPER 11 -92.6 -92609 6 PKNOX1 SIN3A FEZF1 ZNF2 ETS1 GTF3C2 GLIS2 ATF7 FOS SP3 SEC24C GLUD1P3 ENSG00000272140 DUSP8P5 BMS1P4 AP3M1 ENSG00000242288 ECD ZSWIM8 RPL17P50
GH10H073809 1.3 ENCODE dbSUPER 18.6 +63.6 63574 3 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF766 ZNF143 ZNF207 SP3 SP5 ECD ZSWIM8 DUSP8P5 NDST2 SEC24C FUT11 ENSG00000272140 GLUD1P3 ENSG00000242288 CAMK2G
GH10H073905 2 FANTOM5 Ensembl ENCODE dbSUPER 10.9 -36.0 -36035 10 PKNOX1 ARNT SIN3A ZNF766 ZNF143 FOS SP3 JUNB REST SMARCB1 DNAJC9 ECD CAMK2G ENSG00000229990 VCL KAT6B ENSG00000272630 FUT11 ENSG00000272791 NDST2
GH10H073850 1 Ensembl ENCODE dbSUPER 20.8 +23.6 23617 1 GATA3 MAZ CEBPB NFXL1 ZIC2 CAMK2G NDST2 ENSG00000224195 C10orf55 ENSG00000272630 MYOZ1 ENSG00000229990
GH10H073819 1.3 Ensembl ENCODE dbSUPER 13 +54.9 54852 1 CTCF FOXA2 PKNOX1 NFIB JUN MAX NFXL1 RAD21 YY1 E2F1 FUT11 MYOZ1 ENSG00000229990 CAMK2G ZSWIM8 NDST2 ENSG00000224195
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CAMK2G on UCSC Golden Path with GeneCards custom track

Promoters for CAMK2G Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000029880 191 1601 ZFP64 ARID4B SIN3A DMAP1 BRCA1 GLIS2 CBX5 ZNF143 ZNF207 SP3

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

Genomic Location for CAMK2G Gene

Chromosome:
10
Start:
73,812,501 bp from pter
End:
73,874,591 bp from pter
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:
    • O00561
    • O15378
    • Q13279
    • Q13282
    • Q13556
    • Q5SQZ3
    • Q5SQZ4
    • Q5SWX4
    • Q7KYX5
    • Q8N4I3
    • Q8NIA4

    Protein attributes for CAMK2G Gene

    Size:
    558 amino acids
    Molecular mass:
    62609 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=Translation N-terminally extended.; 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

Antibody Products

  • R&D Systems Antibodies for CAMK2G (CaM Kinase II gamma)
  • Cell Signaling Technology (CST) Antibodies for CAMK2G (CAMK2G)
  • Cloud-Clone Corp. Antibodies for CAMK2G

Domains & Families for CAMK2G Gene

Gene Families for CAMK2G Gene

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

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

GENATLAS Biochemistry:
protein kinase,calcium/calmodulin dependent,gammasubunit with several isoforms
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
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.
UniProtKB/Swiss-Prot Function:
Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in sarcoplsamic 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 neurons, 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 Induction:
Activity is induced in skeletal muscle during exercise.

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 TAS,IEA --
GO:0004683 calmodulin-dependent protein kinase activity IBA,IEA --
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

Animal Models for CAMK2G Gene

MGI Knock Outs for CAMK2G:

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for CAMK2G
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , 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
plasma membrane 5
nucleus 5
cytosol 5
endoplasmic reticulum 4
mitochondrion 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 --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0014069 postsynaptic density IEA --
genes like me logo Genes that share ontologies with CAMK2G: view

Pathways & Interactions for CAMK2G Gene

SuperPathways for CAMK2G Gene

SuperPathway Contained pathways
1 RET signaling
2 Post NMDA receptor activation events
3 Development Angiotensin activation of ERK
4 Development Endothelin-1/EDNRA signaling
5 Cardiac conduction
genes like me logo Genes that share pathways with CAMK2G: view

Pathways by source for CAMK2G Gene

SIGNOR curated interactions for CAMK2G Gene

Activates:
Inactivates:

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:0000165 MAPK cascade TAS --
GO:0006468 protein phosphorylation IEA --
GO:0006470 protein dephosphorylation IEA --
GO:0006816 calcium ion transport IEA --
genes like me logo Genes that share ontologies with CAMK2G: view

Drugs & Compounds for CAMK2G Gene

(86) Drugs for CAMK2G Gene - From: DrugBank, ApexBio, FDA Approved Drugs, 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
Bosulif Approved September 2012 Pharma 0
1-tert-butyl-3-(3-methylbenzyl)-1H-pyrazolo[3,4-d]pyrimidin-4-amine Experimental Pharma Target 0
KN-93 Phosphate Pharma CaM kinase II inhibitor, water soluble and cell permeable, CaM kinase II inhibitor; water soluble version of KN 93 (Cat. No. 1278). 0
Autocamtide-2-related inhibitory peptide Pharma inhibitor of calmodulin-dependent protein kinase II (CaM-kinase II, CaMKII) 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

(5) 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
KN 93 phosphate CaM kinase II inhibitor; water soluble version of KN 93 (Cat. No. 1278). 1188890-41-6
STO-609 acetate Selective CaM kinase kinase inhibitor 1173022-21-3

(8) 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
CaMKII-IN-1 1208123-85-6
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

Unigene Clusters for CAMK2G Gene

Calcium/calmodulin-dependent protein kinase II gamma:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for CAMK2G
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
CAMK2G

Expression for CAMK2G Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for CAMK2G Gene



Protein tissue co-expression partners for CAMK2G Gene

NURSA nuclear receptor signaling pathways regulating expression of CAMK2G Gene:

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(4.1)
  • Eye(2.6)
  • Lung(2.3)
  • Pancreas(2.2)
  • Intestine(2.1)
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 33 34
  • 99.77 (n)
dog
(Canis familiaris)
Mammalia CAMK2G 33 34
  • 95.74 (n)
cow
(Bos Taurus)
Mammalia CAMK2G 33 34
  • 95.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CAMK2G 34
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Camk2g 33 16 34
  • 94.21 (n)
rat
(Rattus norvegicus)
Mammalia Camk2g 33
  • 92.95 (n)
oppossum
(Monodelphis domestica)
Mammalia CAMK2G 34
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves CAMK2G 33 34
  • 82.74 (n)
lizard
(Anolis carolinensis)
Reptilia CAMK2G 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia camk2g 33
  • 81.04 (n)
Str.15647 33
African clawed frog
(Xenopus laevis)
Amphibia camk2g-prov 33
zebrafish
(Danio rerio)
Actinopterygii camk2g1 33 34
  • 76.56 (n)
CAMK2G (1 of 2) 34
  • 72 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5109 33
fruit fly
(Drosophila melanogaster)
Insecta CaMKII 34
  • 73 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-43 34
  • 49 (a)
OneToMany
Species where no ortholog for CAMK2G was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for CAMK2G Gene

Variants for CAMK2G Gene

Sequence variations from dbSNP and Humsavar for CAMK2G Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs397514627 Uncertain significance 73,842,486(-) TTTGC(C/G/T)CAAGT nc-transcript-variant, reference, missense
rs1000002170 -- 73,837,405(+) TGCCA(A/G)GAATT intron-variant
rs1000068579 -- 73,842,221(+) GGAAA(C/G)AGGAA intron-variant
rs1000089106 -- 73,841,322(+) GGGGG(C/G)GTCTT intron-variant
rs1000185058 -- 73,817,772(+) CCCAG(A/C)CATTA intron-variant

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)

Relevant External Links 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

(3) MalaCards diseases for CAMK2G Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
timothy syndrome
  • long qt syndrome with syndactyly
exudative vitreoretinopathy
  • familial exudative vitreoretinopathy
fibrillary astrocytoma
  • diffuse astrocytoma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CAMK2G

Genetic Association Database (GAD)
CAMK2G
Human Genome Epidemiology (HuGE) Navigator
CAMK2G
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CAMK2G
genes like me logo Genes that share disorders with CAMK2G: view

No data available for UniProtKB/Swiss-Prot and 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 22 60
  2. 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 60
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  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 22 60
  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 22 60

Products for CAMK2G Gene

Sources for CAMK2G Gene