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	CHRM5
Approved Name	cholinergic receptor, muscarinic 5
Name Alias	acetylcholine receptor, muscarinic 5
Location	15q26
Position	chr15:33968720-34067457, 1
External Links	HGNC: 1954 Entrez Gene: 1133 Ensembl: ENSG00000184984 UCSC: uc001zhk.1
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Shi, J., 2007	SNP: rs2684941, rs2684953, rs2702285, rs4779656, rs499167	no evidence of interaction among these 19 cholinergic genes was found by Allelic Association, Haploview Tests, FITF analysis and FDR correction	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 19)

GO terms by PBA (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0045211	postsynaptic membrane	cellular component	IEA	68
GO:0045202	synapse	cellular component	IBA	29
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0005887	integral component of plasma membrane	cellular component	IEA	158

GO terms by database search (count: 15)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030054	cell junction	cellular component	IEA	88
GO:0001696	gastric acid secretion	biological process	IEA	2
GO:0010579	positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway	biological process	IBA	16
GO:0007213	G-protein coupled acetylcholine receptor signaling pathway	biological process	TAS[3272174]	6
GO:0008152	metabolic process	biological process	TAS[1905013]	50
GO:0007606	sensory perception of chemical stimulus	biological process	IBA	14
GO:0007197	adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway	biological process	TAS[8663391]	5
GO:0007271	synaptic transmission, cholinergic	biological process	IBA	14
GO:0008283	cell proliferation	biological process	TAS[8063729]	37
GO:0019226	transmission of nerve impulse	biological process	IEA	7
GO:0016907	G-protein coupled acetylcholine receptor activity	molecular function	IEA	5
GO:0060304	regulation of phosphatidylinositol dephosphorylation	biological process	IEA	1
GO:0007207	phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway	biological process	IBA	5
GO:0015872	dopamine transport	biological process	IEA	4
GO:0004435	phosphatidylinositol phospholipase C activity	molecular function	TAS[1905013]	8

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 1)

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

KEGG pathways by database search (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	92
hsa04810	Regulation of actin cytoskeleton	24

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CHRM5	GPRASP1	NO	in vitro	15452121

Related other genetic factors

Gene related SNPs (count: 43)

Literature-origin SNPs (count: 5)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2684941	chr15:34039581 - 34039581(1)	intron_variant; upstream_gene_variant	1(0/1/0)
rs2702285	chr15:34022102 - 34022102(1)	intron_variant	1(0/1/0)
rs4779656	chr15:34032402 - 34032402(1)	intron_variant	1(0/1/0)
rs499167	chr15:34056137 - 34056137(1)	intron_variant	1(0/1/0)
rs2684953	chr15:34013530 - 34013530(1)	intron_variant; upstream_gene_variant	1(0/1/0)

LD-proxies (count: 38)

rs_ID	Location	Functional Annotation
rs2684931	chr15:34023466 - 34023466(1)	intron_variant
rs8035294	chr15:33984046 - 33984046(1)	intron_variant
rs8024385	chr15:34008788 - 34008788(1)	intron_variant
rs522397	chr15:34058712 - 34058712(1)	intron_variant
rs613479	chr15:34066989 - 34066989(1)	3_prime_UTR_variant; downstream_gene_variant
rs623941	chr15:34060377 - 34060377(1)	intron_variant
rs541098	chr15:34066124 - 34066124(1)	3_prime_UTR_variant; downstream_gene_variant
rs8030094	chr15:34044681 - 34044681(1)	intron_variant
rs2339352	chr15:34035620 - 34035620(1)	intron_variant
rs8035849	chr15:34058132 - 34058132(1)	intron_variant
rs12903907	chr15:34029780 - 34029780(1)	intron_variant
rs7175823	chr15:34029325 - 34029325(1)	intron_variant
rs579975	chr15:34057023 - 34057023(1)	intron_variant
rs7169003	chr15:34007125 - 34007125(1)	intron_variant
rs554303	chr15:34057604 - 34057604(1)	intron_variant
rs7178446	chr15:34005520 - 34005520(1)	intron_variant
rs7178075	chr15:34005294 - 34005294(1)	intron_variant
rs6495443	chr15:34004311 - 34004311(1)	intron_variant
rs6495442	chr15:34004223 - 34004223(1)	intron_variant
rs4779652	chr15:34003918 - 34003918(1)	intron_variant
rs8039574	chr15:33984003 - 33984003(1)	intron_variant
rs602302	chr15:34002591 - 34002591(1)	intron_variant
rs632591	chr15:34000434 - 34000434(1)	intron_variant
rs11072868	chr15:34000390 - 34000390(1)	intron_variant
rs532720	chr15:34000179 - 34000179(1)	intron_variant
rs536345	chr15:33999790 - 33999790(1)	intron_variant
rs6495448	chr15:34012610 - 34012610(1)	intron_variant
rs8029344	chr15:34056771 - 34056771(1)	intron_variant
rs8039609	chr15:33984067 - 33984067(1)	intron_variant
rs6495459	chr15:34022365 - 34022365(1)	intron_variant
rs2702284	chr15:34022158 - 34022158(1)	intron_variant
rs2632075	chr15:34028796 - 34028796(1)	intron_variant
rs2243858	chr15:34028723 - 34028723(1)	intron_variant
rs8035125	chr15:33983968 - 33983968(1)	intron_variant
rs6495419	chr15:33983061 - 33983061(1)	intron_variant
rs2684932	chr15:34025381 - 34025381(1)	intron_variant
rs2078562	chr15:34028539 - 34028539(1)	intron_variant
rs2632076	chr15:34027959 - 34027959(1)	intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 15	chr15:0-101991189	2 (0/2/0)

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: 1)

Reference	ID in SZGene	Result Category
15292665	164	Positive

Gene relationship with MDD

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Region: chr15:33968720..34067457 View in gBrowse