CAMK2D

Protein identityUniProt · HPA

UniProt accession

Q13557

Gene

CAMK2D

Ensembl

ENSG00000145349

Chromosome

4

Canonical length

499 aa

Protein class

Enzymes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins

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 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 delta chain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Distinct isoforms of this chain have different expression patterns.[provided by RefSeq, Nov 2008]

Canonical amino-acid sequenceUniProt

499 residues, UniProt reviewed canonical sequence.

>Q13557|CAMK2D
     1  MASTTTCTRF TDEYQLFEEL GKGAFSVVRR CMKIPTGQEY AAKIINTKKL SARDHQKLER
    61  EARICRLLKH PNIVRLHDSI SEEGFHYLVF DLVTGGELFE DIVAREYYSE ADASHCIQQI
   121  LESVNHCHLN GIVHRDLKPE NLLLASKSKG AAVKLADFGL AIEVQGDQQA WFGFAGTPGY
   181  LSPEVLRKDP YGKPVDMWAC GVILYILLVG YPPFWDEDQH RLYQQIKAGA YDFPSPEWDT
   241  VTPEAKDLIN KMLTINPAKR ITASEALKHP WICQRSTVAS MMHRQETVDC LKKFNARRKL
   301  KGAILTTMLA TRNFSAAKSL LKKPDGVKES TESSNTTIED EDVKARKQEI IKVTEQLIEA
   361  INNGDFEAYT KICDPGLTAF EPEALGNLVE GMDFHRFYFE NALSKSNKPI HTIILNPHVH
   421  LVGDDAACIA YIRLTQYMDG SGMPKTMQSE ETRVWHRRDG KWQNVHFHRS GSPTVPIKPP
   481  CIPNGKENFS GGTSLWQNI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CAMK2D 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

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.3

Highest tissue expression

124 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CAMK2D.

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 86 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neurodevelopmental disorder
• CAMK2D-related disorder
• CAMK2D-related condition
• See cases
• CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy

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)

0.54

gnomAD pLI

0

gnomAD missense Z

3.11

DepMap mean gene effect

0.04

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cardiac muscle cell contraction
• cellular response to calcium ion
• endoplasmic reticulum calcium ion homeostasis
• long-term synaptic potentiation
• negative regulation of sodium ion transmembrane transport
• positive regulation of cardiac muscle cell apoptotic process
• positive regulation of cardiac muscle hypertrophy
• protein phosphorylation
• regulation of calcium ion transmembrane transport via high voltage-gated calcium channel
• regulation of cardiac muscle cell action potential
• regulation of cardiac muscle cell action potential involved in regulation of contraction
• regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
• regulation of cell communication by electrical coupling
• regulation of cell communication by electrical coupling involved in cardiac conduction
• regulation of cell growth
• regulation of cellular localization
• regulation of heart contraction
• regulation of heart rate by cardiac conduction
• regulation of membrane depolarization
• regulation of neuronal synaptic plasticity
• regulation of protein localization to plasma membrane
• regulation of relaxation of cardiac muscle
• regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
• regulation of ryanodine-sensitive calcium-release channel activity
• regulation of the force of heart contraction
• regulation of transcription by RNA polymerase II
• relaxation of cardiac muscle

Molecular functions

• ATP binding
• calcium/calmodulin-dependent protein kinase activity
• calmodulin binding
• identical protein binding
• protein homodimerization activity
• protein serine kinase activity
• protein serine/threonine kinase activity
• sodium channel inhibitor activity
• titin binding
• transmembrane transporter binding

Cellular components

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

• Acetylation
• ATP-binding
• Calmodulin-binding
• Cell membrane
• Kinase
• Membrane
• Nucleotide-binding
• Phosphoprotein
• Sarcoplasmic reticulum
• Serine/threonine-protein kinase
• Transferase

InteractionsUniProt · HPA

Protein binding partners of CAMK2D in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CACNB2
• RRAD
• CAMK2A
• CAMK2B
• CAMK2G
• DNAL4
• FXR2