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	CHRM2
Approved Name	cholinergic receptor, muscarinic 2
Name Alias	acetylcholine receptor, muscarinic 2
Location	7q35-q36
Position	chr7:136868669-137020255, 1
External Links	HGNC: 1951 Entrez Gene: 1129 Ensembl: ENSG00000181072 UCSC: uc003vtl.1
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Shi, J., 2007	SNP: rs1364409, rs1455858, rs1824024, rs2061174, rs2350786, rs324614, rs324650, rs4475425, rs6957496, rs7782965, rs7810473, rs8191992, rs978437	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: 20)

GO terms by PBA (count: 6)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0045202	synapse	cellular component	IBA	29
GO:0045211	postsynaptic membrane	cellular component	IEA	68
GO:0009615	response to virus	biological process	IEP[16548883]	5
GO:0005887	integral component of plasma membrane	cellular component	IDA[24256733]	158
GO:0005886	plasma membrane	cellular component	IDA; TAS	360
GO:0007399	nervous system development	biological process	TAS[2739737]	40

GO terms by database search (count: 14)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007186	G-protein coupled receptor signaling pathway	biological process	TAS[9603968]	64
GO:0007271	synaptic transmission, cholinergic	biological process	IBA	14
GO:0007188	adenylate cyclase-modulating G-protein coupled receptor signaling pathway	biological process	TAS[8139539]	10
GO:0007606	sensory perception of chemical stimulus	biological process	IBA	14
GO:0010579	positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway	biological process	IBA	16
GO:0016907	G-protein coupled acetylcholine receptor activity	molecular function	IDA[24256733]	5
GO:0008016	regulation of heart contraction	biological process	IEA	5
GO:0030054	cell junction	cellular component	IEA	88
GO:0006940	regulation of smooth muscle contraction	biological process	IBA	5
GO:0007197	adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway	biological process	IBA	5
GO:0007187	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	biological process	TAS[10895079]	17
GO:0007213	G-protein coupled acetylcholine receptor signaling pathway	biological process	IDA[24256733]	6
GO:0051482	positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway	biological process	IDA[24256733]	6
GO:0007207	phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway	biological process	TAS[2739737]	5

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: 7)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CHRM2	SAG	NO	in vivo	10952973
CHRM2	GNA11	NO	in vivo	7797501
CHRM2	GNG2	NO	in vivo	9063897
CHRM2	GPRASP2	NO	in vitro	15086532
CHRM2	GRK5	NO	in vitro	8288567
CHRM2	GNA14	NO	in vivo	7797501
CHRM2	GNA15	NO	in vitro	7797501

Related other genetic factors

Gene related SNPs (count: 45)

Literature-origin SNPs (count: 13)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs4475425	chr7:136890452 - 136890452(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs8191992	chr7:137016561 - 137016561(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_variant	1(0/1/0)
rs1455858	chr7:136946956 - 136946956(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs6957496	chr7:136867090 - 136867090(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs1824024	chr7:136958947 - 136958947(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs7810473	chr7:136911710 - 136911710(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs324614	chr7:136979227 - 136979227(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs978437	chr7:136929431 - 136929431(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs324650	chr7:137008914 - 137008914(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs2350786	chr7:136991823 - 136991823(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs7782965	chr7:136939386 - 136939386(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs2061174	chr7:136976653 - 136976653(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs1364409	chr7:136927286 - 136927286(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)

LD-proxies (count: 32)

rs_ID	Location	Functional Annotation
rs10228048	chr7:136897646 - 136897646(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs7777727	chr7:136887068 - 136887068(1)	intron_variant; non_coding_transcript_variant
rs6962027	chr7:137017188 - 137017188(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs1364407	chr7:136925178 - 136925178(1)	intron_variant; non_coding_transcript_variant
rs10246819	chr7:137023221 - 137023221(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs6960707	chr7:136950870 - 136950870(1)	intron_variant; non_coding_transcript_variant
rs1378646	chr7:136950254 - 136950254(1)	intron_variant; non_coding_transcript_variant
rs1378647	chr7:136948436 - 136948436(1)	intron_variant; non_coding_transcript_variant
rs6467695	chr7:136945406 - 136945406(1)	intron_variant; non_coding_transcript_variant
rs960677	chr7:136916268 - 136916268(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs6952264	chr7:136961202 - 136961202(1)	intron_variant; non_coding_transcript_variant
rs6945736	chr7:136912555 - 136912555(1)	intron_variant; non_coding_transcript_variant
rs2350783	chr7:136958283 - 136958283(1)	intron_variant; non_coding_transcript_variant
rs1424546	chr7:136953534 - 136953534(1)	intron_variant; non_coding_transcript_variant
rs1455857	chr7:136955194 - 136955194(1)	intron_variant; non_coding_transcript_variant
rs1111418	chr7:136948957 - 136948957(1)	intron_variant; non_coding_transcript_variant
rs1158586	chr7:136952389 - 136952389(1)	intron_variant; non_coding_transcript_variant
rs12155015	chr7:136961350 - 136961350(1)	intron_variant; non_coding_transcript_variant
rs324645	chr7:137007017 - 137007017(1)	intron_variant; non_coding_transcript_variant
rs324644	chr7:137006929 - 137006929(1)	intron_variant; non_coding_transcript_variant
rs324649	chr7:137008762 - 137008762(1)	intron_variant; non_coding_transcript_variant
rs324594	chr7:136970576 - 136970576(1)	intron_variant; non_coding_transcript_variant
rs420817	chr7:137002656 - 137002656(1)	intron_variant; non_coding_transcript_variant
rs324640	chr7:137004249 - 137004249(1)	intron_variant; non_coding_transcript_variant
rs1549330	chr7:136990360 - 136990360(1)	intron_variant; non_coding_transcript_variant
rs324637	chr7:137002082 - 137002082(1)	intron_variant; non_coding_transcript_variant
rs7785096	chr7:136992623 - 136992623(1)	intron_variant; non_coding_transcript_variant
rs7807871	chr7:136985024 - 136985024(1)	intron_variant; non_coding_transcript_variant
rs7809341	chr7:136981698 - 136981698(1)	intron_variant; non_coding_transcript_variant
rs2113545	chr7:136977994 - 136977994(1)	intron_variant; non_coding_transcript_variant
rs6948054	chr7:136996054 - 136996054(1)	intron_variant; non_coding_transcript_variant
rs7799047	chr7:136986811 - 136986811(1)	intron_variant; non_coding_transcript_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 7	chr7:0-159345973	3 (0/3/0)
7q31-33	chr7:107800000-138500000	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

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

Overlap with MDD from candidate gene intersection analysis (count: 2)

Reference	Description	Category in MDD	Link in MK4MDD
19181679	Our data fail to support association with the CHRM2 polymorphisms previously implicated in the genetic aetiology of depression.	Neg	CHRM2
12116189	There was a significant increase in the frequency of 11 homozygotes in 126 women with major depression (43.7%) compared to 304 women without major depression (25.7%), P =.001.	Pos	CHRM2

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Region: chr7:136868669..137020255 View in gBrowse