Gene Gene information from NCBI Gene database.
Entrez ID 818
Gene name Calcium/calmodulin dependent protein kinase II gamma
Gene symbol CAMK2G
Synonyms (NCBI Gene)
CAMKCAMK-IICAMKGMRD59
Chromosome 10
Chromosome location 10q22.2
Summary 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
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs397514627 C>A,G Likely-pathogenic, pathogenic Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
222
miRTarBase ID miRNA Experiments Reference
MIRT004446 hsa-miR-219a-5p Luciferase reporter assay 19196972
MIRT024052 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT031976 hsa-miR-16-5p Proteomics 18668040
MIRT043311 hsa-miR-331-3p CLASH 23622248
MIRT053737 hsa-miR-1268a Microarray 22942087
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IEA
GO:0004683 Function Calcium/calmodulin-dependent protein kinase activity IBA
GO:0004683 Function Calcium/calmodulin-dependent protein kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602123 1463 ENSG00000148660
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13555
Protein name Calcium/calmodulin-dependent protein kinase type II subunit gamma (CaM kinase II subunit gamma) (CaMK-II subunit gamma) (EC 2.7.11.17)
Protein 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 an
PDB 2UX0 , 2V7O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 14 272 Protein kinase domain Domain
PF08332 CaMKII_AD 426 553 Calcium/calmodulin dependent protein kinase II association domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in skeletal muscle. {ECO:0000269|PubMed:16690701}.
Sequence
Sequence length 558
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
34
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism Likely pathogenic; Pathogenic rs397514627 RCV000678045
Generalized hypotonia Likely pathogenic; Pathogenic rs397514627 RCV000678045
Global developmental delay Likely pathogenic; Pathogenic rs397514627 RCV000678045
Intellectual developmental disorder 59 Likely pathogenic; Pathogenic rs2134277165, rs2548530010, rs2547960192, rs397514627 RCV002250979
RCV002291094
RCV003991680
RCV001588840
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CAMK2G-related disorder Uncertain significance; Likely benign; Benign rs375277421, rs765989347, rs201295644, rs2547960908, rs200585413, rs147311100, rs774447392, rs56230636, rs200186779 RCV003963766
RCV003901034
RCV003981546
RCV003896445
RCV003904250
RCV003936925
RCV003951453
RCV003971744
RCV003969094
CAMK2G-related syndromic intellectual disability Uncertain significance rs757705577 RCV001095736
Neurodevelopmental disorder Uncertain significance rs2548515709 RCV003389164
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 28640357
Alzheimer Disease Associate 24731980
Anemia Aplastic Associate 25800665
Arrhythmias Cardiac Associate 25815641, 25910598, 29410121, 36671453
Arthritis Psoriatic Associate 20353560
Astrocytoma Associate 12937144
Ataxia Telangiectasia Associate 10403399
Atherosclerosis Associate 28011257
Atrial Fibrillation Associate 37523735
Atrial Remodeling Associate 34196135, 37523735