Gene Report

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Basic Info

Approved Symbol	CCKBR
Approved Name	cholecystokinin B receptor
Location	11p15.4
Position	chr11:6259736-6272127, 1
External Links	HGNC: 1571 Entrez Gene: 887 Ensembl: ENSG00000110148 UCSC: uc001mcp.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Gratacos, M.,2009	SNP: rs1396860	Nominal associations with bipolar disorder was observed.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 22)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0007586	digestion	biological process	TAS[7681836]	6
GO:0005887	integral component of plasma membrane	cellular component	IC[10913157]	158

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007166	cell surface receptor signaling pathway	biological process	NAS[10913157]	23
GO:0048732	gland development	biological process	IEA	1
GO:0008284	positive regulation of cell proliferation	biological process	IDA[10913157]	44
GO:0008283	cell proliferation	biological process	TAS[10400698]	37
GO:0007204	positive regulation of cytosolic calcium ion concentration	biological process	IDA[10913157]	21
GO:0043551	regulation of phosphatidylinositol 3-kinase activity	biological process	TAS[10400698]	2
GO:0046935	1-phosphatidylinositol-3-kinase regulator activity	molecular function	TAS[10400698]	2
GO:0015054	gastrin receptor activity	molecular function	IDA[10913157]	1
GO:0005515	protein binding	molecular function	IPI[16963136]	563
GO:0007600	sensory perception	biological process	TAS[7681836]	3
GO:0048565	digestive tract development	biological process	IEA	4
GO:0007631	feeding behavior	biological process	TAS[7681836]	12
GO:0031741	type B gastrin/cholecystokinin receptor binding	molecular function	IDA[1280419]	1
GO:0001696	gastric acid secretion	biological process	IEA	2
GO:0004951	cholecystokinin receptor activity	molecular function	TAS[7681836]	1
GO:0038188	cholecystokinin signaling pathway	biological process	TAS[7681836]	1
GO:0004435	phosphatidylinositol phospholipase C activity	molecular function	TAS[7681836]	8
GO:0008152	metabolic process	biological process	TAS[7681836]	50
GO:0007200	phospholipase C-activating G-protein coupled receptor signaling pathway	biological process	TAS[8455720]	11

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04020	Calcium signaling pathway	53

ID	Name	No. of Genes in BDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	92

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 4)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CCKBR	CCK	YES	in vitro;in vivo	10438490 , 12695525 , 15068617 , 15520004 , 15001692
CCKBR	CCKAR	NO	in vitro	14534299
CCKBR	PPP1R9B	NO	in vitro	17464283
CCKBR	PTPN11	NO	in vitro;in vivo	16963136

Related other genetic factors

Gene related SNPs (count: 10)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1396860	chr11:6262222 - 6262222(1)	intron_variant	1(1/0/0)

rs_ID	Location	Functional Annotation
rs3793993	chr11:6264323 - 6264323(1)	intron_variant
rs2880898	chr11:6264780 - 6264780(1)	intron_variant
rs11040826	chr11:6265877 - 6265877(1)	intron_variant; upstream_gene_variant
rs11040825	chr11:6265799 - 6265799(1)	intron_variant; upstream_gene_variant
rs11040824	chr11:6265537 - 6265537(1)	intron_variant
rs12801747	chr11:6265096 - 6265096(1)	intron_variant
rs11040833	chr11:6266698 - 6266698(1)	intron_variant; upstream_gene_variant
rs11040832	chr11:6266688 - 6266688(1)	intron_variant; upstream_gene_variant
rs11040831	chr11:6266647 - 6266647(1)	intron_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 11	chr11:0-135086622	2 (0/2/0)
11p15	chr11:0-22000000	5 (0/4/1)
11p15.4	chr11:2800000-11700000	1 (0/1/0)

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

Gene relationship with SZ

Reference	ID in SZGene	Result Category
11803530	89	Negative
10581492	89	Negative

Gene relationship with MDD

Reference	Description	Category in MDD	Link in MK4MDD
18068248	Genes differentially expressed in major depression	Pos	CCKBR
15303102	Genes altered in major depressive disorder	Pos	CCKBR

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Region: chr11:6259736..6272127 View in gBrowse