• Gene id: 817

Gene Summary

• Gene Symbol: CAMK2D   Gene   UCSC   Ensembl
• Aliases: CAMKD
• Gene name: calcium/calmodulin dependent protein kinase II delta
• Alternate names: calcium/calmodulin-dependent protein kinase type II subunit delta, CaM kinase II delta subunit, CaM-kinase II delta chain, CaMK-II delta subunit, calcium/calmodulin-dependent protein kinase (CaM kinase) II delta, calcium/calmodulin-dependent protein kinase typ,
• Gene location: 4q26 (113762176: 113451031)     Exons: 26     NC_000004.12
• Gene summary(Entrez): 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, t
• OMIM: 607708

SNPs

rs2664155

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.50873774G>A
NC_000019.9   g.51377030G>A
NG_031984.1   g.5342G>A|SEQ=[G/A]|GENE=KLK2

rs1042157

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.28605736G>A
NC_000016.10   g.28605736G>C
NC_000016.9   g.28617057G>A
NC_000016.9   g.28617057G>C
NG_028128.1   g.22810C>T
NG_028128.1   g.22810C>G
NM_177536.3   c.*85C>T
NM_177536.3   c.*85C>G
NM_001055.3   c.*85C>T
NM_001055.3   c.*85C>G
NM_177534.2   c.

Protein Summary

• Protein general information: Q13557  
  • Name: Calcium/calmodulin dependent protein kinase type II subunit delta (CaM kinase II subunit delta) (CaMK II subunit delta) (EC 2.7.11.17)
  • Length: 499  
  • Mass: 56369
  • Tissue specificity: Expressed in cardiac muscle and skeletal muscle. Isoform Delta 3, isoform Delta 2, isoform Delta 8 and isoform Delta 9 are expressed in cardiac muscle. Isoform Delta 11 is expressed in skeletal muscle. {ECO
• Sequence:

  MASTTTCTRFTDEYQLFEELGKGAFSVVRRCMKIPTGQEYAAKIINTKKLSARDHQKLEREARICRLLKHPNIVR
  LHDSISEEGFHYLVFDLVTGGELFEDIVAREYYSEADASHCIQQILESVNHCHLNGIVHRDLKPENLLLASKSKG
  AAVKLADFGLAIEVQGDQQAWFGFAGTPGYLSPEVLRKDPYGKPVDMWACGVILYILLVGYPPFWDEDQHRLYQQ
  IKAGAYDFPSPEWDTVTPEAKDLINKMLTINPAKRITASEALKHPWICQRSTVASMMHRQETVDCLKKFNARRKL
  KGAILTTMLATRNFSAAKSLLKKPDGVKESTESSNTTIEDEDVKARKQEIIKVTEQLIEAINNGDFEAYTKICDP
  GLTAFEPEALGNLVEGMDFHRFYFENALSKSNKPIHTIILNPHVHLVGDDAACIAYIRLTQYMDGSGMPKTMQSE
  ETRVWHRRDGKWQNVHFHRSGSPTVPIKPPCIPNGKENFSGGTSLWQNI

• Structural information:
  • Protein Domains: (14..27-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR013543  IPR011009  IPR032710  IPR000719  IPR017441   IPR008271  
  • Prosite: PS00107 PS50011 PS00108
  • PDB: 2VN9 2W2C 2WEL 3GP2 5VLO 6AYW
  • PDBsum: 2VN9 2W2C 2WEL 3GP2 5VLO 6AYW
  • DIP: 33129
  • STRING: ENSP00000339740
• Other Databases: GeneCards:  CAMK2D  Malacards:  CAMK2D

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0004683	calmodulin-dependent protein kinase activity	IBA	molecular function
GO:0005516	calmodulin binding	IBA	molecular function
GO:0043005	neuron projection	IBA	cellular component
GO:0006468	protein phosphorylation	IDA	biological process
GO:0060341	regulation of cellular localization	IMP	biological process
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	TAS	biological process
GO:0010613	positive regulation of cardiac muscle hypertrophy	IMP	biological process
GO:0008016	regulation of heart contraction	TAS	biological process
GO:0060314	regulation of ryanodine-sensitive calcium-release channel activity	TAS	biological process
GO:0004683	calmodulin-dependent protein kinase activity	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0005516	calmodulin binding	IEA	molecular function
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0004683	calmodulin-dependent protein kinase activity	IEA	molecular function
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019871	sodium channel inhibitor activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004683	calmodulin-dependent protein kinase activity	IDA	molecular function
GO:0010666	positive regulation of cardiac muscle cell apoptotic process	ISS	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0005516	calmodulin binding	IPI	molecular function
GO:0044325	ion channel binding	IPI	molecular function
GO:0004683	calmodulin-dependent protein kinase activity	IDA	molecular function
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IC	biological process
GO:0098909	regulation of cardiac muscle cell action potential involved in regulation of contraction	IC	biological process
GO:1901844	regulation of cell communication by electrical coupling involved in cardiac conduction	IC	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:1902306	negative regulation of sodium ion transmembrane transport	IDA	biological process
GO:0018107	peptidyl-threonine phosphorylation	IDA	biological process
GO:0003254	regulation of membrane depolarization	IDA	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IC	biological process
GO:2000650	negative regulation of sodium ion transmembrane transporter activity	IDA	biological process
GO:0031432	titin binding	IPI	molecular function
GO:0044325	ion channel binding	ISS	molecular function
GO:0010880	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS	biological process
GO:0098901	regulation of cardiac muscle cell action potential	ISS	biological process
GO:1902514	regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	ISS	biological process
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0010649	regulation of cell communication by electrical coupling	ISS	biological process
GO:0032469	endoplasmic reticulum calcium ion homeostasis	ISS	biological process
GO:0060314	regulation of ryanodine-sensitive calcium-release channel activity	TAS	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0018107	peptidyl-threonine phosphorylation	IDA	biological process
GO:1901897	regulation of relaxation of cardiac muscle	IDA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0071277	cellular response to calcium ion	TAS	biological process
GO:0002026	regulation of the force of heart contraction	TAS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0055119	relaxation of cardiac muscle	ISS	biological process
GO:0086003	cardiac muscle cell contraction	ISS	biological process
GO:1901725	regulation of histone deacetylase activity	TAS	biological process
GO:0005516	calmodulin binding	IPI	molecular function
GO:0005516	calmodulin binding	IPI	molecular function
GO:0005954	calcium- and calmodulin-dependent protein kinase complex	IDA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0001558	regulation of cell growth	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05012	Parkinson disease
hsa04024	cAMP signaling pathway
hsa04020	Calcium signaling pathway
hsa04360	Axon guidance
hsa05205	Proteoglycans in cancer
hsa04310	Wnt signaling pathway
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04934	Cushing syndrome
hsa05152	Tuberculosis
hsa04217	Necroptosis
hsa04740	Olfactory transduction
hsa04921	Oxytocin signaling pathway
hsa04728	Dopaminergic synapse
hsa04114	Oocyte meiosis
hsa04722	Neurotrophin signaling pathway
hsa04725	Cholinergic synapse
hsa04922	Glucagon signaling pathway
hsa04916	Melanogenesis
hsa04713	Circadian entrainment
hsa04925	Aldosterone synthesis and secretion
hsa04750	Inflammatory mediator regulation of TRP channels
hsa04066	HIF-1 signaling pathway
hsa04912	GnRH signaling pathway
hsa04911	Insulin secretion
hsa04012	ErbB signaling pathway
hsa04971	Gastric acid secretion
hsa04720	Long-term potentiation
hsa05031	Amphetamine addiction
hsa05214	Glioma

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq