Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	CAMK2A
Previous Symbol	CAMKA
Symbol Alias	KIAA0968, CaMKIINalpha
Approved Name	calcium/calmodulin-dependent protein kinase II alpha
Previous Name	calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha
Name Alias	CaM-kinase II alpha chain, "calcium/calmodulin-dependent protein kinase II alpha-B subunit", "CaM kinase II alpha subunit", "CaMK-II alpha subunit", "calcium/calmodulin-dependent protein kinase type II alpha chain"
Location	5q32
Position	chr5:150219491-150290291, -1
External Links	HGNC: 1460 Entrez Gene: 815 Ensembl: ENSG00000070808 UCSC: uc003lrt.2
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	YES

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Ament, S. A., 2015		Coding P-value=0.22, q-value=0.48, Regulatory P-value=0.0014, q-value=0.0086. The gene has significant rare variant associations to BD.	Positive	Comment on Study
Yosifova, A.,2009	SNP: rs13360565, rs17712679, rs2288799, rs2304042	No SNP of this gene had significant association with BD in our population.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 33)

GO terms by PBA (count: 6)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005516	calmodulin binding	molecular function	IPI[20668654]	20
GO:0005634	nucleus	cellular component	IDA[21630459]	283
GO:0007268	synaptic transmission	biological process	TAS	116
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0006816	calcium ion transport	biological process	ISS	14
GO:0004674	protein serine/threonine kinase activity	molecular function	ISS	27

GO terms by database search (count: 27)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0060333	interferon-gamma-mediated signaling pathway	biological process	TAS	10
GO:0042803	protein homodimerization activity	molecular function	IPI[20668654]	71
GO:0018105	peptidyl-serine phosphorylation	biological process	ISS	11
GO:0005515	protein binding	molecular function	IPI[17052756]	563
GO:1900034	regulation of cellular response to heat	biological process	TAS	10
GO:0051092	positive regulation of NF-kappaB transcription factor activity	biological process	IMP[17052756]	12
GO:0030666	endocytic vesicle membrane	cellular component	TAS	8
GO:0048168	regulation of neuronal synaptic plasticity	biological process	ISS	6
GO:0030054	cell junction	cellular component	IEA	88
GO:0046928	regulation of neurotransmitter secretion	biological process	ISS	7
GO:0042734	presynaptic membrane	cellular component	IEA	16
GO:0010666	positive regulation of cardiac muscle cell apoptotic process	biological process	ISS	1
GO:0046777	protein autophosphorylation	biological process	ISS	16
GO:0005739	mitochondrion	cellular component	ISS	75
GO:1902108	regulation of mitochondrial membrane permeability involved in apoptotic process	biological process	ISS	1
GO:0019221	cytokine-mediated signaling pathway	biological process	TAS	23
GO:0006468	protein phosphorylation	biological process	IDA[17052756]	42
GO:0051928	positive regulation of calcium ion transport	biological process	ISS	9
GO:0005524	ATP binding	molecular function	IEA	118
GO:0016301	kinase activity	molecular function	IDA[17052756]	7
GO:0034605	cellular response to heat	biological process	TAS	11
GO:0000082	G1/S transition of mitotic cell cycle	biological process	ISS	9
GO:0035254	glutamate receptor binding	molecular function	ISS	4
GO:0002931	response to ischemia	biological process	ISS	4
GO:0004683	calmodulin-dependent protein kinase activity	molecular function	IEA	2
GO:0005654	nucleoplasm	cellular component	TAS	163
GO:0005829	cytosol	cellular component	TAS	223

Gene related KEGG pathways (count: 8)

KEGG pathways by PBA (count: 3)

ID	Name	No. of Genes in BDgene
hsa04720	Long-term potentiation	13
hsa04020	Calcium signaling pathway	53
hsa05214	Glioma	9

KEGG pathways by database search (count: 5)

ID	Name	No. of Genes in BDgene
hsa04740	Olfactory transduction	11
hsa04012	ErbB signaling pathway	13
hsa04310	Wnt signaling pathway	20
hsa04916	Melanogenesis	16
hsa04912	GnRH signaling pathway	17

Gene related BioCarta pathways (count: 5)

BioCarta pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
pgc1aPathway	Regulation of PGC-1a	4

BioCarta pathways by database search (count: 4)

ID	Name	No. of Genes in BDgene
stathminPathway	Stathmin and breast cancer resistance to antimicrotubule agents	3
biopeptidesPathway	Bioactive Peptide Induced Signaling Pathway	4
crebPathway	Transcription factor CREB and its extracellular signals	8
CaCaMPathway	Ca++/ Calmodulin-dependent Protein Kinase Activation	3

Gene related interactors from protein-protein interactions data in HPRD (count: 23)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CAMK2A	ETS1	NO	in vitro	12475968
CAMK2A	ITPKA	NO	in vivo	11468283
CAMK2A	SMAD2	NO	in vitro;in vivo	11027280
CAMK2A	CAMK2N2	NO	in vitro;in vivo;yeast 2-hybrid	9724800
CAMK2A	PDC	NO	in vivo	2394752 , 11331285
CAMK2A	DAPK2	NO	in vitro	10629061
CAMK2A	GFAP	YES	in vitro;in vivo	2155236 , 9099667 , 7822264 , 2114109
CAMK2A	MAPT	YES	in vitro	9771888 , 9735171 , 10090741 , 9832145 , 12387894 , 7706316 , 8999860 , 10737616 , 12435421
CAMK2A	PPM1F	YES	in vitro	15140879
CAMK2A	KRT18	NO	in vitro	7523419 , 1374067
CAMK2A	ITGB1BP1	NO	in vitro	9813144
CAMK2A	LRRC7	NO	in vitro;yeast 2-hybrid	11160423 , 16120608
CAMK2A	MPDZ	NO	in vivo	15312654
CAMK2A	HSF1	NO	in vitro;in vivo	11447121
CAMK2A	CEBPB	NO	in vitro;in vivo	1314426
CAMK2A	SRF	NO	in vitro;in vivo	10753652 , 8413226 , 10318869
CAMK2A	ACTN4	NO	in vitro;yeast 2-hybrid	11160423
CAMK2A	CDK5R1	NO	in vitro;in vivo;yeast 2-hybrid	12223541
CAMK2A	TANC1	NO	in vivo	15673434
CAMK2A	ACTN1	NO	yeast 2-hybrid	12223541
CAMK2A	ACTN2	NO	in vitro	16120608
CAMK2A	ATP2A2	YES	in vitro;in vivo	7929371
CAMK2A	CDK5R2	NO	in vitro;yeast 2-hybrid	12223541

Related other genetic factors

Gene related SNPs (count: 15)

Literature-origin SNPs (count: 4)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2304042	chr5:150265244 - 150265244(1)	5_prime_UTR_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)
rs2288799	chr5:150251850 - 150251850(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; splice_region_variant	1(0/1/0)
rs17712679	chr5:150222800 - 150222800(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1(0/1/0)
rs13360565	chr5:150267195 - 150267195(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)

LD-proxies (count: 11)

rs_ID	Location	Functional Annotation
rs10463293	chr5:150256510 - 150256510(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs4958445	chr5:150258797 - 150258797(1)	intron_variant; non_coding_transcript_variant
rs3776823	chr5:150258042 - 150258042(1)	intron_variant; non_coding_transcript_variant
rs3822606	chr5:150261592 - 150261592(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs4958452	chr5:150250120 - 150250120(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs887346	chr5:150216429 - 150216429(1)	downstream_gene_variant; intron_variant
rs9800032	chr5:150214817 - 150214817(1)	downstream_gene_variant; intron_variant
rs6579782	chr5:150229286 - 150229286(1)	intron_variant; non_coding_transcript_variant
rs6885505	chr5:150229216 - 150229216(1)	intron_variant; non_coding_transcript_variant
rs2053053	chr5:150229830 - 150229830(1)	intron_variant; non_coding_transcript_variant
rs2053054	chr5:150229561 - 150229561(1)	intron_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 5	chr5:0-181538259	3 (0/2/1)
5q31-q33	chr5:131200000-160500000	1 (1/0/0)
5q32	chr5:145100000-150400000	2 (0/2/0)
5q32-5q33.3	chr5:145100000-160500000	1 (0/1/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

Overlap with MDD from candidate gene intersection analysis (count: 1)

Reference	Description	Category in MDD	Link in MK4MDD
12585696	Genes differentially expressed in major depression	Pos	CAMK2A

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Region: chr5:150219491..150290291 View in gBrowse