CHRM2 (cholinergic receptor muscarinic 2)

2014-06-01  

Identity

HGNC
LOCATION
7q33
LOCUSID
ALIAS
HM2
FUSION GENES

Other Information

Locus ID:

NCBI: 1129
MIM: 118493
HGNC: 1951
Ensembl: ENSG00000181072

Variants:

dbSNP: 1129
ClinVar: 1129
TCGA: ENSG00000181072
COSMIC: CHRM2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000181072ENST00000320658P08172
ENSG00000181072ENST00000320658A4D1Q0
ENSG00000181072ENST00000401861P08172
ENSG00000181072ENST00000401861A4D1Q0
ENSG00000181072ENST00000445907P08172
ENSG00000181072ENST00000445907A4D1Q0
ENSG00000181072ENST00000453373P08172
ENSG00000181072ENST00000453373A4D1Q0

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Calcium signaling pathwayKEGGko04020
Neuroactive ligand-receptor interactionKEGGko04080
Regulation of actin cytoskeletonKEGGko04810
Calcium signaling pathwayKEGGhsa04020
Neuroactive ligand-receptor interactionKEGGhsa04080
Regulation of actin cytoskeletonKEGGhsa04810
Cholinergic synapseKEGGhsa04725
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class A/1 (Rhodopsin-like receptors)REACTOMER-HSA-373076
Amine ligand-binding receptorsREACTOMER-HSA-375280
Muscarinic acetylcholine receptorsREACTOMER-HSA-390648
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (i) signalling eventsREACTOMER-HSA-418594
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA445876Tobacco Use DisorderDiseaseClinicalAnnotationassociatedPD19644963
PA450626nicotineChemicalClinicalAnnotationassociatedPD19644963

References

Pubmed IDYearTitleCitations
222780612012Structure of the human M2 muscarinic acetylcholine receptor bound to an antagonist.245
198745742009Genetical genomic determinants of alcohol consumption in rats and humans.93
203517142011Poor replication of candidate genes for major depressive disorder using genome-wide association data.92
160003162005CHRM2 gene predisposes to alcohol dependence, drug dependence and affective disorders: results from an extended case-control structured association study.85
160003162005CHRM2 gene predisposes to alcohol dependence, drug dependence and affective disorders: results from an extended case-control structured association study.85
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
183166772008Using dimensional models of externalizing psychopathology to aid in gene identification.73
183166772008Using dimensional models of externalizing psychopathology to aid in gene identification.73
152102862004Linkage and linkage disequilibrium of evoked EEG oscillations with CHRM2 receptor gene polymorphisms: implications for human brain dynamics and cognition.66
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62

Citation

Dessen P

CHRM2 (cholinergic receptor muscarinic 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/53984/chrm2