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	CCK
Approved Name	cholecystokinin
Name Alias	prepro-cholecystokinin, "cholecystokinin triacontatriapeptide"
Location	3p22.1
Position	chr3:42257825-42266207, -1
External Links	HGNC: 1569 Entrez Gene: 885 Ensembl: ENSG00000187094 UCSC: uc021wwk.1
No. of Studies	2 (Positive: 0; Negative: 1; trend: 1)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Yosifova, A.,2011	SNP: rs11129950	Suggestive association of this gene was found.	Trend	Comment on Study
Hattori, E.,2002	Other variant: CCK_STR	No allelic or genotypic association between the CCK promoter variations and mood disorders was detected.These data suggest that the CCK promoter STR is unlikely to have a major genetic effect on the development of mood disorders in the Japanese population.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 25)

GO terms by PBA (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005179	hormone activity	molecular function	TAS[10320330]	12

GO terms by database search (count: 24)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0032099	negative regulation of appetite	biological process	IEA	2
GO:0001764	neuron migration	biological process	ISS[15152034]	18
GO:0005576	extracellular region	cellular component	TAS	97
GO:0051901	positive regulation of mitochondrial depolarization	biological process	IEA	4
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	biological process	IEA	12
GO:0001662	behavioral fear response	biological process	IEA	16
GO:0043194	axon initial segment	cellular component	IEA	5
GO:0030425	dendrite	cellular component	IEA	65
GO:0043203	axon hillock	cellular component	IEA	3
GO:0005515	protein binding	molecular function	IPI[23597562]	563
GO:0030424	axon	cellular component	ISS[15152034]	39
GO:0008284	positive regulation of cell proliferation	biological process	IEA	44
GO:0032461	positive regulation of protein oligomerization	biological process	IEA	2
GO:0005615	extracellular space	cellular component	IEA	85
GO:0005184	neuropeptide hormone activity	molecular function	ISS[15374756]	8
GO:0043195	terminal bouton	cellular component	IEA	17
GO:0001836	release of cytochrome c from mitochondria	biological process	IEA	3
GO:0043204	perikaryon	cellular component	IEA	17
GO:0007409	axonogenesis	biological process	ISS[15152034]	11
GO:0042755	eating behavior	biological process	ISS[15374756]	5
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	biological process	IEA	7
GO:0007205	protein kinase C-activating G-protein coupled receptor signaling pathway	biological process	IEA	7
GO:0051930	regulation of sensory perception of pain	biological process	IEA	7
GO:0007165	signal transduction	biological process	TAS[10320330]	136

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 5)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CCK	MEP1A	NO	in vitro	11278902
CCK	CCKAR	NO	in vitro;in vivo	10400673 , 11300760 , 9006937 , 9603948 , 10595537
CCK	ENPEP	NO	in vitro;in vivo	8804068
CCK	MEP1B	NO	in vitro	11278902
CCK	CPE	NO	in vivo	9275097 , 12479974

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs11129950	chr3:42273095 - 42273095(1)		1(0/0/1)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
CCK_STR	microsatellite		1 (0/1/0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 3	chr3:0-198295559	2 (0/2/0)
3p22.1	chr3:39300000-43600000	1 (0/0/1)

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

Gene relationship with SZ

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

Overlap with SZ from candidate gene intersection analysis (count: 3)

Reference	ID in SZGene	Result Category
11443535	221	Negative
9491815	221	Negative
12116180	221	Trend

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Description	Category in MDD
12116188	No allelic or genotypic association between the CCK promoter variations and mood disorders was detected.These data suggest that the CCK promoter STR is unlikely to have a major genetic effect on the development of mood disorders in the Japanese population.	Negative

Overlap with MDD from candidate gene intersection analysis (count: 0)

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Region: chr3:42257825..42266207 View in gBrowse