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	CNR1
Previous Symbol	CNR
Symbol Alias	CB1K5, CB-R, CB1, CANN6, CB1A
Approved Name	cannabinoid receptor 1 (brain)
Location	6q14-q15
Position	chr6:88139864-88166359, -1
External Links	HGNC: 2159 Entrez Gene: 1268 Ensembl: ENSG00000118432 UCSC: uc003pmq.4
No. of Studies	5 (Positive: 0; Negative: 5; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 5)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Fan, J., 2010		For gene-based test, P-value = 0.063 in STEP1. non-significant in any samples.	Negative	Comment on Study
Mansour, H. A.,2009		Gene-based tests:X<sup>2</sup>=4.971, P-value = 0.304 in recessive model, X<sup>2</sup>=3.233, P-value = 0.623 in dominant model, X<sup>2</sup>=2.629, P-value = 0.643 in additive model in BPI. No significant association was observed using neither single SNP-based analyses nor gene-based tests in BPI.	Negative	Comment on Study
Monteleone, P.,2010	SNP: rs1049353	A case-control study using the missense polymorphism, 2316A>G (Ile772Met), and the tetranucleotide repeat (TTTA)n showed no significant association with mood disorders in Japanese samples.	Negative	Comment on Study
Byrne, E. M., 2014		P-value=0.11. When ranking genes based on the most significant SNP, the strongest signal was rs9353523 in the CNR1 gene (P=0.001).	Negative	Comment on Study
Pisanu, C., 2013	SNP: rs806365, rs7766029, rs806366, rs806368, rs12720071, rs1049353, rs806374, rs806375, rs806376, rs6454672, rs9450898, rs806380	As a whole, our results do not support a clear role of CNR1 in BD and lithium response.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 39)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0005887	integral component of plasma membrane	cellular component	TAS[1718258]	158

GO terms by database search (count: 37)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007613	memory	biological process	IEA	22
GO:0033004	negative regulation of mast cell activation	biological process	IEA	2
GO:0007584	response to nutrient	biological process	IEA	10
GO:0043278	response to morphine	biological process	IEA	9
GO:0031999	negative regulation of fatty acid beta-oxidation	biological process	IEA	2
GO:0035094	response to nicotine	biological process	IEA	10
GO:0010976	positive regulation of neuron projection development	biological process	IEA	10
GO:0043065	positive regulation of apoptotic process	biological process	IEA	25
GO:0042593	glucose homeostasis	biological process	IEA	19
GO:0051001	negative regulation of nitric-oxide synthase activity	biological process	IEA	2
GO:0045471	response to ethanol	biological process	IEA	24
GO:0050796	regulation of insulin secretion	biological process	IEA	24
GO:0002866	positive regulation of acute inflammatory response to antigenic stimulus	biological process	IEA	1
GO:0008144	drug binding	molecular function	IEA	21
GO:0060135	maternal process involved in female pregnancy	biological process	IEA	3
GO:0032496	response to lipopolysaccharide	biological process	IEA	22
GO:0043231	intracellular membrane-bounded organelle	cellular component	IEA	34
GO:0007188	adenylate cyclase-modulating G-protein coupled receptor signaling pathway	biological process	IDA[18761332]	10
GO:0060405	regulation of penile erection	biological process	IEA	1
GO:0007283	spermatogenesis	biological process	IEA	29
GO:0032228	regulation of synaptic transmission, GABAergic	biological process	IEA	5
GO:0004949	cannabinoid receptor activity	molecular function	IDA[18761332]	2
GO:0033602	negative regulation of dopamine secretion	biological process	IEA	2
GO:0045776	negative regulation of blood pressure	biological process	IEA	10
GO:0007413	axonal fasciculation	biological process	IEA	4
GO:0042220	response to cocaine	biological process	IEA	12
GO:0030424	axon	cellular component	IEA	39
GO:0030426	growth cone	cellular component	IEA	22
GO:0051966	regulation of synaptic transmission, glutamatergic	biological process	IEA	6
GO:0007568	aging	biological process	IEA	22
GO:0007187	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	biological process	TAS[1718258]	17
GO:0045777	positive regulation of blood pressure	biological process	IEA	4
GO:0038171	cannabinoid signaling pathway	biological process	IDA[18761332]; IEA; TAS[1718258]	2
GO:0060259	regulation of feeding behavior	biological process	IEA	1
GO:0019233	sensory perception of pain	biological process	IEA	15
GO:0045759	negative regulation of action potential	biological process	IEA	3
GO:0031622	positive regulation of fever generation	biological process	IEA	3

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

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
CNR1	GNAI3	NO	in vivo	11168387
CNR1	GNA15	NO	in vivo	12095632
CNR1	MET	NO	in vitro	11894096
CNR1	GNAI1	NO	in vivo	11168387

Related other genetic factors

Gene related SNPs (count: 21)

Literature-origin SNPs (count: 12)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs806380	chr6:88154934 - 88154934(1)	intron_variant	1(0/1/0)
rs6454672	chr6:88151851 - 88151851(1)	intron_variant	1(0/1/0)
rs1049353	chr6:88143916 - 88143916(1)	3_prime_UTR_variant; downstream_gene_variant; synonymous_variant	2(0/2/0)
rs7766029	chr6:88137716 - 88137716(1)	downstream_gene_variant	1(0/1/0)
rs806376	chr6:88148929 - 88148929(1)	intron_variant; upstream_gene_variant	1(0/1/0)
rs806365	chr6:88136230 - 88136230(1)	downstream_gene_variant	1(0/1/0)
rs806374	chr6:88147601 - 88147601(1)	intron_variant; upstream_gene_variant	1(0/1/0)
rs806375	chr6:88148802 - 88148802(1)	intron_variant; upstream_gene_variant	1(0/1/0)
rs9450898	chr6:88154344 - 88154344(1)	intron_variant	1(0/1/0)
rs806368	chr6:88140381 - 88140381(1)	3_prime_UTR_variant; downstream_gene_variant	1(0/1/0)
rs12720071	chr6:88141462 - 88141462(1)	3_prime_UTR_variant; downstream_gene_variant	1(0/1/0)
rs806366	chr6:88137870 - 88137870(1)	downstream_gene_variant	1(0/1/0)

LD-proxies (count: 9)

rs_ID	Location	Functional Annotation
rs7752758	chr6:88156657 - 88156657(1)	intron_variant
rs9450902	chr6:88170505 - 88170505(1)	upstream_gene_variant
rs4707436	chr6:88142032 - 88142032(1)	3_prime_UTR_variant; downstream_gene_variant
rs806379	chr6:88151548 - 88151548(1)	intron_variant
rs806377	chr6:88149004 - 88149004(1)	intron_variant; upstream_gene_variant
rs9444584	chr6:88152840 - 88152840(1)	intron_variant
rs6928499	chr6:88151570 - 88151570(1)	intron_variant
rs6928813	chr6:88151979 - 88151979(1)	intron_variant
rs2023239	chr6:88150763 - 88150763(1)	intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 6	chr6:0-170805979	3 (0/3/0)
6q14-22	chr6:75200000-130000000	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: 2)

Reference	Description	Result Category
19839995	Gene-based tests:X<sup>2</sup>=3.898, P-value = 0.389 in additive model in SZ/SZA, X<sup>2</sup>=4.189, P-value = 0.404 in dominant model in SZ/SZA, X<sup>2</sup>=1.603, P-value = 0.957 in recessive model in SZ/SZA.No association was observed using neither single SNP-based analyses nor gene-based tests in SZ/SZA.	Negative
24687905	P-value=0.76. Gene-based tests show no significant association between this gene and SZ.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 11)

Reference	ID in SZGene	Result Category
17978319	362	Negative
11204352	362	Negative
19839995	362	Negative
11803524	362	Negative
19944766	362	Negative
12082570	362	Positive
17881126	362	Negative
18186055	362	Positive
16788767	362	Positive
17669634	362	Negative
16314880	362	Negative

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 2)

Reference	Description	Category in MDD
20080186	A case-control study using the missense polymorphism, 2316A>G (Ile772Met), and the tetranucleotide repeat (TTTA)n showed no significant association with mood disorders in Japanese samples.	Positive
24687905	P-value=0.12. Gene-based tests show no significant association between this gene and MDD.	Negative

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

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Region: chr6:88139864..88166359 View in gBrowse