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Aliases for CHRM2 Gene

Aliases for CHRM2 Gene

  • Cholinergic Receptor Muscarinic 2 2 3
  • Cholinergic Receptor, Muscarinic 2 3 5
  • Acetylcholine Receptor, Muscarinic 2 3
  • Acetylcholine Receptor 2
  • Muscarinic M2 Receptor 3
  • Muscarinic 2 2
  • 7TM Receptor 3
  • HM2 3

External Ids for CHRM2 Gene

Previous GeneCards Identifiers for CHRM2 Gene

  • GC07M135039
  • GC07P135955
  • GC07P136115
  • GC07P136010
  • GC07P136203
  • GC07P136553
  • GC07P130859

Summaries for CHRM2 Gene

Entrez Gene Summary for CHRM2 Gene

  • The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine to these receptors and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 2 is involved in mediation of bradycardia and a decrease in cardiac contractility. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for CHRM2 Gene

CHRM2 (Cholinergic Receptor Muscarinic 2) is a Protein Coding gene. Diseases associated with CHRM2 include peripartum cardiomyopathy and cardiomyopathy, dilated, 1nn. Among its related pathways are Signaling by GPCR and cAMP signaling pathway. GO annotations related to this gene include G-protein coupled receptor activity and G-protein coupled acetylcholine receptor activity. An important paralog of this gene is CHRM4.

UniProtKB/Swiss-Prot for CHRM2 Gene

  • The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is adenylate cyclase inhibition. Signaling promotes phospholipase C activity, leading to the release of inositol trisphosphate (IP3); this then triggers calcium ion release into the cytosol.

Tocris Summary for CHRM2 Gene

  • Muscarinic receptors are widely distributed throughout the body and control distinct functions according to location and subtype (M1 - M5).They are predominantly expressed in the parasympathetic nervous system where they exert both inhibitory and excitatory effects.

Gene Wiki entry for CHRM2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRM2 Gene

Genomics for CHRM2 Gene

Regulatory Elements for CHRM2 Gene

Promoters for CHRM2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CHRM2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHRM2 Gene

Chromosome:
7
Start:
136,868,652 bp from pter
End:
137,020,255 bp from pter
Size:
151,604 bases
Orientation:
Plus strand

Genomic View for CHRM2 Gene

Genes around CHRM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHRM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHRM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHRM2 Gene

Proteins for CHRM2 Gene

  • Protein details for CHRM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08172-ACM2_HUMAN
    Recommended name:
    Muscarinic acetylcholine receptor M2
    Protein Accession:
    P08172
    Secondary Accessions:
    • Q4VBK6
    • Q9P1X9

    Protein attributes for CHRM2 Gene

    Size:
    466 amino acids
    Molecular mass:
    51715 Da
    Quaternary structure:
    • Interacts with ARRB1 and ARRB2. Interacts with RACK1; the interaction regulates CHRM2 internalization.

    Three dimensional structures from OCA and Proteopedia for CHRM2 Gene

neXtProt entry for CHRM2 Gene

Proteomics data for CHRM2 Gene at MOPED

Post-translational modifications for CHRM2 Gene

  • Phosphorylated in response to agonist treatment.
  • Glycosylation at Asn 2, Asn 3, Asn 6, and Asn 9
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for CHRM2 Gene

Domains & Families for CHRM2 Gene

Gene Families for CHRM2 Gene

Graphical View of Domain Structure for InterPro Entry

P08172

UniProtKB/Swiss-Prot:

ACM2_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family. Muscarinic acetylcholine receptor subfamily. CHRM2 sub-subfamily.
Family:
  • Belongs to the G-protein coupled receptor 1 family. Muscarinic acetylcholine receptor subfamily. CHRM2 sub-subfamily.
genes like me logo Genes that share domains with CHRM2: view

Function for CHRM2 Gene

Molecular function for CHRM2 Gene

GENATLAS Biochemistry:
cholinergic receptor,muscarinic 2,G protein coupled receptor superfalily
UniProtKB/Swiss-Prot Function:
The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is adenylate cyclase inhibition. Signaling promotes phospholipase C activity, leading to the release of inositol trisphosphate (IP3); this then triggers calcium ion release into the cytosol.
UniProtKB/Swiss-Prot Induction:
Up-regulated in response to enterovirus 71 (EV71) infection.
genes like me logo Genes that share phenotypes with CHRM2: view

Animal Models for CHRM2 Gene

MGI Knock Outs for CHRM2:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CHRM2 Gene

Localization for CHRM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHRM2 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Note=Phosphorylation in response to agonist binding promotes receptor internalization. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHRM2 Gene COMPARTMENTS Subcellular localization image for CHRM2 gene
Compartment Confidence
plasma membrane 5
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CHRM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
GO:0030425 dendrite IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with CHRM2: view

Pathways & Interactions for CHRM2 Gene

genes like me logo Genes that share pathways with CHRM2: view

SIGNOR curated interactions for CHRM2 Gene

Activates:

Gene Ontology (GO) - Biological Process for CHRM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006940 regulation of smooth muscle contraction IBA --
GO:0007197 adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway IBA --
GO:0007213 G-protein coupled acetylcholine receptor signaling pathway IDA 24256733
GO:0007271 synaptic transmission, cholinergic IBA --
GO:0008016 regulation of heart contraction IEA --
genes like me logo Genes that share ontologies with CHRM2: view

Drugs & Compounds for CHRM2 Gene

(181) Drugs for CHRM2 Gene - From: Novoseek, DGIdb, IUPHAR, DrugBank, ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Atropine Approved Pharma Antagonist, antagonist, Target MAChRs antagonist 115
Bethanechol Approved Pharma Full agonist, Agonist, agonist, Target 3
Carbachol Approved Pharma Full agonist, Agonist, antagonist, Target, agonist 3
Oxybutynin Approved, Investigational Pharma Inverse agonist, Antagonist, antagonist, Target 64
Pilocarpine Approved Pharma Partial agonist, Agonist, agonist, Target 24

(34) Additional Compounds for CHRM2 Gene - From: IUPHAR, Tocris, Novoseek, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
AF-DX 116
Antagonist 102394-31-0
(-)aceclidine
Partial agonist, Agonist
(+)aceclidine
Full agonist, Agonist
[<sup>18</sup>F]FP-TZTP
[<sup>3</sup>H](-)MQNB
Antagonist
genes like me logo Genes that share compounds with CHRM2: view

Drug Products

Transcripts for CHRM2 Gene

Unigene Clusters for CHRM2 Gene

Cholinergic receptor, muscarinic 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHRM2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5
SP1: - - - -
SP2: -
SP3:

Relevant External Links for CHRM2 Gene

GeneLoc Exon Structure for
CHRM2
ECgene alternative splicing isoforms for
CHRM2

Expression for CHRM2 Gene

mRNA expression in normal human tissues for CHRM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CHRM2 Gene

This gene is overexpressed in Colon - Sigmoid (x10.7), Heart - Left Ventricle (x9.1), Heart - Atrial Appendage (x7.8), and Bladder (x4.4).

Protein differential expression in normal tissues from HIPED for CHRM2 Gene

This gene is overexpressed in Urinary Bladder (51.6) and Colon (17.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CHRM2 Gene



SOURCE GeneReport for Unigene cluster for CHRM2 Gene Hs.535891

genes like me logo Genes that share expression patterns with CHRM2: view

Protein tissue co-expression partners for CHRM2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for CHRM2 Gene

Orthologs for CHRM2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHRM2 36
  • 100 (a)
OneToOne
CHRM2 35
  • 99.86 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia CHRM2 35
  • 92.97 (n)
  • 97.8 (a)
CHRM2 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHRM2 35
  • 93.35 (n)
  • 97.59 (a)
CHRM2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chrm2 16
Chrm2 35
  • 89.38 (n)
  • 96.48 (a)
Chrm2 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHRM2 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHRM2 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC102551851 35
  • 89.16 (n)
  • 96.48 (a)
chicken
(Gallus gallus)
Aves CHRM2 35
  • 79.13 (n)
  • 87.39 (a)
CHRM2 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHRM2 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chrm2 35
  • 75.68 (n)
  • 83.59 (a)
zebrafish
(Danio rerio)
Actinopterygii chrm2a 36
  • 67 (a)
OneToMany
chrm2b 36
  • 53 (a)
OneToMany
chrm2a 35
  • 70.4 (n)
  • 75.11 (a)
fruit fly
(Drosophila melanogaster)
Insecta mAcR-60C 37
  • 55 (a)
mAcR-60C 36
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea M03F4.3 37
  • 28 (a)
gar-3 36
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToMany
Species with no ortholog for CHRM2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHRM2 Gene

ENSEMBL:
Gene Tree for CHRM2 (if available)
TreeFam:
Gene Tree for CHRM2 (if available)

Paralogs for CHRM2 Gene

Paralogs for CHRM2 Gene

genes like me logo Genes that share paralogs with CHRM2: view

Variants for CHRM2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CHRM2 Gene

P08172-ACM2_HUMAN
Genetic variations in CHRM2 can influence susceptibility to alcoholism [MIM:103780].

Sequence variations from dbSNP and Humsavar for CHRM2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1364492 -- 136,887,118(-) caaga(A/G)cagct intron-variant
rs1364493 -- 136,880,366(-) CTGAC(A/C)AATAT intron-variant
rs1364494 -- 136,880,319(-) CTTAG(C/G)GGATA intron-variant
rs2113550 -- 136,881,786(+) GGACA(A/G)GTCTT intron-variant
rs3735028 -- 136,873,411(-) CTGAC(A/G)AAACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHRM2 Gene

Variant ID Type Subtype PubMed ID
nsv889235 CNV Loss 21882294
esv2735202 CNV Deletion 23290073
nsv831147 CNV Gain 17160897
nsv528311 CNV Loss 19592680
nsv527148 CNV Gain 19592680

Variation tolerance for CHRM2 Gene

Residual Variation Intolerance Score: 42.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.63; 31.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHRM2 Gene

HapMap Linkage Disequilibrium report
CHRM2
Human Gene Mutation Database (HGMD)
CHRM2

Disorders for CHRM2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for CHRM2 Gene - From: GeneTests, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
peripartum cardiomyopathy
  • meadows' syndrome
cardiomyopathy, dilated, 1nn
  • cardiomyopathy, dilated 1nn
bladder neck obstruction
  • obstruction of bladder neck or vesicourethral orifice
intestinal schistosomiasis
  • katayama fever
parasitic helminthiasis infectious disease
  • helminth infection
- elite association - COSMIC cancer census association via MalaCards
Search CHRM2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACM2_HUMAN
  • Major depressive disorder (MDD) [MIM:608516]: A common psychiatric disorder. It is a complex trait characterized by one or more major depressive episodes without a history of manic, mixed, or hypomanic episodes. A major depressive episode is characterized by at least 2 weeks during which there is a new onset or clear worsening of either depressed mood or loss of interest or pleasure in nearly all activities. Four additional symptoms must also be present including changes in appetite, weight, sleep, and psychomotor activity; decreased energy; feelings of worthlessness or guilt; difficulty thinking, concentrating, or making decisions; or recurrent thoughts of death or suicidal ideation, plans, or attempts. The episode must be accompanied by distress or impairment in social, occupational, or other important areas of functioning. {ECO:0000269 PubMed:15229186}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for CHRM2

Genetic Association Database (GAD)
CHRM2
Human Genome Epidemiology (HuGE) Navigator
CHRM2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHRM2
genes like me logo Genes that share disorders with CHRM2: view

No data available for Genatlas for CHRM2 Gene

Publications for CHRM2 Gene

  1. CHRM2 gene predisposes to alcohol dependence, drug dependence and affective disorders: results from an extended case-control structured association study. (PMID: 16000316) Luo X. … Gelernter J. (Hum. Mol. Genet. 2005) 3 23 48 67
  2. Down-regulation of muscarinic acetylcholine receptor M2 adversely affects the expression of Alzheimer's disease-relevant genes and proteins. (PMID: 16181410) Zuchner T. … Perez-Polo J.R. (J. Neurochem. 2005) 3 23 25 26
  3. Two-state models and the analysis of the allosteric effect of gallamine at the M2 muscarinic receptor. (PMID: 18305010) Ehlert F.J. … Griffin M.T. (J. Pharmacol. Exp. Ther. 2008) 23 25 26
  4. Allosteric interaction of the neuromuscular blockers vecuronium and pancuronium with recombinant human muscarinic M2 receptors. (PMID: 17588565) Cembala T.M. … Lambert D.G. (Eur. J. Pharmacol. 2007) 23 25 26
  5. First gallamine-tacrine hybrid: design and characterization at cholinesterases and the M2 muscarinic receptor. (PMID: 17944454) Elsinghorst P.W. … GA1tschow M. (J. Med. Chem. 2007) 23 25 26

Products for CHRM2 Gene

Sources for CHRM2 Gene

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