CAMK2G

Protein identityUniProt · HPA

UniProt accession

Q13555

Gene

CAMK2G

Ensembl

ENSG00000148660

Chromosome

10

Canonical length

558 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

Subcellular location

Plasma membrane,Cell Junctions,Primary cilium tip,Primary cilium transition zone,Perinuclear theca,Calyx,Connecting piece,Principal piece,End piece

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

558 residues, UniProt reviewed canonical sequence.

>Q13555|CAMK2G
     1  MATTATCTRF TDDYQLFEEL GKGAFSVVRR CVKKTSTQEY AAKIINTKKL SARDHQKLER
    61  EARICRLLKH PNIVRLHDSI SEEGFHYLVF DLVTGGELFE DIVAREYYSE ADASHCIHQI
   121  LESVNHIHQH DIVHRDLKPE NLLLASKCKG AAVKLADFGL AIEVQGEQQA WFGFAGTPGY
   181  LSPEVLRKDP YGKPVDIWAC GVILYILLVG YPPFWDEDQH KLYQQIKAGA YDFPSPEWDT
   241  VTPEAKNLIN QMLTINPAKR ITADQALKHP WVCQRSTVAS MMHRQETVEC LRKFNARRKL
   301  KGAILTTMLV SRNFSAAKSL LNKKSDGGVK KRKSSSSVHL MPQSNNKNSL VSPAQEPAPL
   361  QTAMEPQTTV VHNATDGIKG STESCNTTTE DEDLKGRVPE GRSSRDRTAP SAGMQPQPSL
   421  CSSAMRKQEI IKITEQLIEA INNGDFEAYT KICDPGLTSF EPEALGNLVE GMDFHKFYFE
   481  NLLSKNSKPI HTTILNPHVH VIGEDAACIA YIRLTQYIDG QGRPRTSQSE ETRVWHRRDG
   541  KWLNVHYHCS GAPAAPLQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CAMK2G can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.33

Highest tissue expression

143 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CAMK2G.

Disease | AllUniProt

Conditions CAMK2G is implicated in, by any mechanism.

• Intellectual developmental disorder, autosomal dominant 59 (MRD59) MIM:618522

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 140 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Intellectual developmental disorder 59
• Severe intellectual disability
• Global developmental delay
• Autism
• Generalized hypotonia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.24

gnomAD pLI

1

gnomAD missense Z

3.8

DepMap mean gene effect

-0.13

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell differentiation
• insulin secretion
• long-term synaptic potentiation
• nervous system development
• regulation of calcium ion transport
• regulation of neuron projection development
• regulation of neuronal synaptic plasticity
• regulation of protein localization to plasma membrane
• regulation of skeletal muscle adaptation

Molecular functions

• ATP binding
• calcium-dependent protein serine/threonine phosphatase activity
• calcium/calmodulin-dependent protein kinase activity
• calmodulin binding
• identical protein binding
• protein homodimerization activity
• protein serine kinase activity

Cellular components

• calcium- and calmodulin-dependent protein kinase complex
• cytoplasm
• cytosol
• endocytic vesicle membrane
• membrane
• neuron projection
• nucleoplasm
• postsynaptic density
• sarcoplasmic reticulum membrane

Protein domainsUniProt · Pfam · InterPro

• Protein kinase domain
• Serine/threonine-protein kinase, active site
• Protein kinase-like domain superfamily
• Calcium/calmodulin-dependent protein kinase II, association-domain
• Protein kinase, ATP binding site
• NTF2-like domain superfamily
• Protein kinase domain
• Calcium/calmodulin dependent protein kinase II association domain

KeywordsUniProt

• ATP-binding
• Calmodulin-binding
• Developmental protein
• Differentiation
• Intellectual disability
• Kinase
• Membrane
• Neurogenesis
• Nucleotide-binding
• Phosphoprotein
• Sarcoplasmic reticulum
• Serine/threonine-protein kinase
• Transferase

InteractionsUniProt · HPA

Protein binding partners of CAMK2G in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CAMK2D