Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Comment on Gene

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Basic Info

Approved Symbol	CAMKK2
Symbol Alias	CAMKK, KIAA0787, CAMKKB, MGC15254
Approved Name	calcium/calmodulin-dependent protein kinase kinase 2, beta
Location	12q24.2
Position	chr12:121237691-121298308, -1
External Links	HGNC: 1470 Entrez Gene: 10645 Ensembl: ENSG00000110931 UCSC: uc001tzu.3
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Barden, N., 2006	SNP: rs3817190 Haplotype: rs1653625 - rs4980999 - rs3817190 - rs28360477(C-C-T-C), rs1653625 - rs4980999 - rs3817190 - rs28360477(C-C-A-C), rs1653625 - rs4980999 - rs3817190 - rs28360477(G-C-T-C), rs1653625 - rs4980999 - rs3817190 - rs28360477(C-T-T-C), rs1653625 - rs4980999 - rs3817190 - rs28360477(G-C-A-T), rs1653625 - rs4980999 - rs3817190 - rs28360477(G-C-A-C), rs1653625 - rs28360463 - rs1653622 - rs11065500 - rs11065501 - rs4980999 - rs3817190(A-A-G-G-C-T-T), rs1653625 - rs28360463 - rs1653622 - rs11065500 - rs11065501 - rs4980999 - rs3817190(A-C-A-A-C-C-A), rs1653625 - rs28360463 - rs1653622 - rs11065500 - rs11065501 - rs4980999 - rs3817190(A-C-A-A-C-C-T), rs1653625 - rs28360463 - rs1653622 - rs11065500 - rs11065501 - rs4980999 - rs3817190(A-C-A-A-C-T-T), rs1653625 - rs28360463 - rs1653622 - rs11065500 - rs11065501 - rs4980999 - rs3817190(A-C-A-A-G-C-A), rs1653625 - rs28360463 - rs1653622 - rs11065500 - rs11065501 - rs4980999 - rs3817190(A-C-A-A-G-C-T), rs1653625 - rs28360463 - rs1653622 - rs11065500 - rs11065501 - rs4980999 - rs3817190(A-C-G-A-C-C-A), rs1653625 - rs28360463 - rs1653622 - rs11065500 - rs11065501 - rs4980999 - rs3817190(A-C-G-A-C-C-T), rs1653625 - rs28360463 - rs1653622 - rs11065500 - rs11065501 - rs4980999 - rs3817190(C-C-A-A-C-C-T)	Allelic, genotypic or family-based association studies suggest the presence of two susceptibility loci, the P2RX7 and CaMKK2genes.	Positive	Comment on Study
McQuillin, A.,2009	SNP: rs3817190	No significant association was observed with BP.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 16)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005516	calmodulin binding	molecular function	TAS[11395482]	20
GO:0005634	nucleus	cellular component	IEA	283
GO:0005509	calcium ion binding	molecular function	IDA[11395482]	50

GO terms by database search (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0006468	protein phosphorylation	biological process	IDA[11395482]	42
GO:0045859	regulation of protein kinase activity	biological process	TAS[11395482]	2
GO:0018108	peptidyl-tyrosine phosphorylation	biological process	TAS[11395482]	12
GO:0019722	calcium-mediated signaling	biological process	TAS[11395482]	9
GO:0042995	cell projection	cellular component	IEA	9
GO:0000165	MAPK cascade	biological process	TAS[11395482]	10
GO:0045893	positive regulation of transcription, DNA-templated	biological process	TAS[11395482]	58
GO:0004683	calmodulin-dependent protein kinase activity	molecular function	IEA	2
GO:0004713	protein tyrosine kinase activity	molecular function	TAS[11395482]	9
GO:0046777	protein autophosphorylation	biological process	IDA[11395482]	16
GO:0005622	intracellular	cellular component	TAS[11395482]	17
GO:0005524	ATP binding	molecular function	IEA	118

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04920	Adipocytokine signaling pathway	8

KEGG pathways by database search (count: 0)

Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
CaCaMPathway	Ca++/ Calmodulin-dependent Protein Kinase Activation	3

Gene related interactors from protein-protein interactions data in HPRD (count: 3)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CAMKK2	CAMK1	NO	in vitro	11395482 , 9822657
CAMKK2	CAMK4	NO	in vitro	11395482 , 9822657
CAMKK2	CALM1	NO	in vitro	11395482 , 9822657

Related other genetic factors

Gene related SNPs (count: 8)

Literature-origin SNPs (count: 3)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs11065501	chr12:121234167 - 121234167(1)	downstream_gene_variant	1(0/1/0)
rs3817190	chr12:121274274 - 121274274(1)	missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	2(1/1/0)
rs1063843	chr12:121243884 - 121243884(1)	3_prime_UTR_variant; intron_variant	1(1/0/0)

LD-proxies (count: 5)

rs_ID	Location	Functional Annotation
rs9805130	chr12:121277592 - 121277592(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs11065504	chr12:121242657 - 121242657(1)	downstream_gene_variant; intron_variant
rs12819431	chr12:121242984 - 121242984(1)	downstream_gene_variant; intron_variant
rs3794207	chr12:121248275 - 121248275(1)	downstream_gene_variant; intron_variant
rs12823779	chr12:121250441 - 121250441(1)	downstream_gene_variant; intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 6)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
12q24.3	chr12:120300000-133275309	1 (1/0/0)
Chr 12	chr12:0-133275309	3 (0/3/0)
12q24	chr12:108600000-133275309	4 (1/1/2)
12q23-q24	chr12:95800000-133275309	3 (2/0/1)
12q24.31	chr12:120300000-125400000	1 (1/0/0)
12q	chr12:38200000-133851895	1 (1/0/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr12:121237691..121298308 View in gBrowse