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    CHRM2 cholinergic receptor muscarinic 2 [ Homo sapiens (human) ]

    Gene ID: 1129, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CHRM2provided by HGNC
    Official Full Name
    cholinergic receptor muscarinic 2provided by HGNC
    Primary source
    HGNC:HGNC:1951
    See related
    Ensembl:ENSG00000181072 MIM:118493; AllianceGenome:HGNC:1951
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HM2
    Summary
    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]
    Expression
    Biased expression in heart (RPKM 10.8), gall bladder (RPKM 5.9) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CHRM2 in Genome Data Viewer
    Location:
    7q33
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (136868652..137020213)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (138178337..138329898)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (136553399..136704960)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375524 Neighboring gene MPRA-validated peak6766 silencer Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:136464707-136465229 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:136554078-136554840 Neighboring gene uncharacterized LOC349160 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_97737 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_97763 Neighboring gene microRNA 490 Neighboring gene keratin 8 pseudogene 51 Neighboring gene MPRA-validated peak6770 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr7:136765721-136765913 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:136778098-136778598 Neighboring gene MPRA-validated peak6771 silencer Neighboring gene MPRA-validated peak6772 silencer Neighboring gene MPRA-validated peak6775 silencer Neighboring gene MPRA-validated peak6776 silencer Neighboring gene uncharacterized LOC105375525 Neighboring gene ribosomal protein L18 pseudogene 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Membrane cholesterol content influences binding properties of muscarinic M2 receptors and differentially impacts activation of second messenger pathways. Michal P, et al. Eur J Pharmacol, 2009 Mar 15. PMID 19374848, Free PMC Article
    2. Association of CHRM2 with IQ: converging evidence for a gene influencing intelligence. Dick DM, et al. Behav Genet, 2007 Mar. PMID 17160701
    3. CHRM2 variation predisposes to personality traits of agreeableness and conscientiousness. Luo X, et al. Hum Mol Genet, 2007 Jul 1. PMID 17468496
    4. Recovery of oligomers and cooperativity when monomers of the M2 muscarinic cholinergic receptor are reconstituted into phospholipid vesicles. Ma AW, et al. Biochemistry, 2007 Jul 3. PMID 17552496
    5. Alcohol dependence with comorbid drug dependence: genetic and phenotypic associations suggest a more severe form of the disorder with stronger genetic contribution to risk. Dick DM, et al. Addiction, 2007 Jul. PMID 17567401

    See all (161) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The C-terminus of the prototypical M2 muscarinic receptor localizes to the mitochondria and regulates cell respiration under stress conditions.
      Title: The C-terminus of the prototypical M2 muscarinic receptor localizes to the mitochondria and regulates cell respiration under stress conditions.
    2. M2 muscarinic receptors negatively modulate cell migration in human glioblastoma cells.
      Title: M2 muscarinic receptors negatively modulate cell migration in human glioblastoma cells.
    3. Deep learning-based classification of breast cancer cells using transmembrane receptor dynamics.
      Title: Deep learning-based classification of breast cancer cells using transmembrane receptor dynamics.
    4. Vibrational spectroscopy analysis of ligand efficacy in human M2 muscarinic acetylcholine receptor (M2R).
      Title: Vibrational spectroscopy analysis of ligand efficacy in human M(2) muscarinic acetylcholine receptor (M(2)R).
    5. M2 Muscarinic Receptor Activation Impairs Mitotic Progression and Bipolar Mitotic Spindle Formation in Human Glioblastoma Cell Lines.
      Title: M2 Muscarinic Receptor Activation Impairs Mitotic Progression and Bipolar Mitotic Spindle Formation in Human Glioblastoma Cell Lines.
    6. Cross Interaction between M2 Muscarinic Receptor and Notch1/EGFR Pathway in Human Glioblastoma Cancer Stem Cells: Effects on Cell Cycle Progression and Survival.
      Title: Cross Interaction between M2 Muscarinic Receptor and Notch1/EGFR Pathway in Human Glioblastoma Cancer Stem Cells: Effects on Cell Cycle Progression and Survival.
    7. Modeling the allosteric modulation on a G-Protein Coupled Receptor: the case of M2 muscarinic Acetylcholine Receptor in complex with LY211960.
      Title: Modeling the allosteric modulation on a G-Protein Coupled Receptor: the case of M2 muscarinic Acetylcholine Receptor in complex with LY211960.
    8. Pharmacogenetics of tardive dyskinesia in schizophrenia: The role of CHRM1 and CHRM2 muscarinic receptors.
      Title: Pharmacogenetics of tardive dyskinesia in schizophrenia: The role of CHRM1 and CHRM2 muscarinic receptors.
    9. Group II muscarinic acetylcholine receptors attenuate hepatic injury via Nrf2/ARE pathway.
      Title: Group II muscarinic acetylcholine receptors attenuate hepatic injury via Nrf2/ARE pathway.
    10. M2 muscarinic receptor displays conformational complexity depending on the nature of ligands.
      Title: Conformational Complexity and Dynamics in a Muscarinic Receptor Revealed by NMR Spectroscopy.
    Submit: New GeneRIF Correction See all GeneRIFs (97)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog
    Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ43243, MGC120006, MGC120007

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled acetylcholine receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables G protein-coupled acetylcholine receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables arrestin family protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled acetylcholine receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in G protein-coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in presynaptic modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of heart contraction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of smooth muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to virus IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in asymmetric synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in axon terminus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cholinergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in symmetric synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    muscarinic acetylcholine receptor M2
    Names
    7TM receptor
    acetylcholine receptor, muscarinic 2
    muscarinic M2 receptor

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011846.2 RefSeqGene

      Range
      5001..153373
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_405

    mRNA and Protein(s)

    1. NM_000739.3 → NP_000730.1  muscarinic acetylcholine receptor M2

      See identical proteins and their annotated locations for NP_000730.1

      Status: REVIEWED

      Source sequence(s)
      AC009264, AC020581, KF458615
      Consensus CDS
      CCDS5843.1
      UniProtKB/Swiss-Prot
      P08172, Q4VBK6, Q9P1X9
      UniProtKB/TrEMBL
      A4D1Q0, Q96RH0
      Conserved Domains (1) summary
      cd15297
      Location:24 → 451
      7tmA_mAChR_M2; muscarinic acetylcholine receptor subtype M2, member of the class A family of seven-transmembrane G protein-coupled receptors

    2. NM_001006626.3 → NP_001006627.1  muscarinic acetylcholine receptor M2

      See identical proteins and their annotated locations for NP_001006627.1

      Status: REVIEWED

      Source sequence(s)
      AC009264, AC020581, KF458615
      Consensus CDS
      CCDS5843.1
      UniProtKB/Swiss-Prot
      P08172, Q4VBK6, Q9P1X9
      UniProtKB/TrEMBL
      A4D1Q0, Q96RH0
      Related
      ENSP00000384401.1, ENST00000401861.1
      Conserved Domains (1) summary
      cd15297
      Location:24 → 451
      7tmA_mAChR_M2; muscarinic acetylcholine receptor subtype M2, member of the class A family of seven-transmembrane G protein-coupled receptors

    3. NM_001006627.3 → NP_001006628.1  muscarinic acetylcholine receptor M2

      See identical proteins and their annotated locations for NP_001006628.1

      Status: REVIEWED

      Source sequence(s)
      AC009264, AC020581, KF458615
      Consensus CDS
      CCDS5843.1
      UniProtKB/Swiss-Prot
      P08172, Q4VBK6, Q9P1X9
      UniProtKB/TrEMBL
      A4D1Q0, Q96RH0
      Related
      ENSP00000399745.2, ENST00000445907.6
      Conserved Domains (1) summary
      cd15297
      Location:24 → 451
      7tmA_mAChR_M2; muscarinic acetylcholine receptor subtype M2, member of the class A family of seven-transmembrane G protein-coupled receptors

    4. NM_001006628.3 → NP_001006629.1  muscarinic acetylcholine receptor M2

      See identical proteins and their annotated locations for NP_001006629.1

      Status: REVIEWED

      Source sequence(s)
      AC009264, AC020581, KF458615
      Consensus CDS
      CCDS5843.1
      UniProtKB/Swiss-Prot
      P08172, Q4VBK6, Q9P1X9
      UniProtKB/TrEMBL
      A4D1Q0, Q96RH0
      Conserved Domains (1) summary
      cd15297
      Location:24 → 451
      7tmA_mAChR_M2; muscarinic acetylcholine receptor subtype M2, member of the class A family of seven-transmembrane G protein-coupled receptors

    5. NM_001006629.3 → NP_001006630.1  muscarinic acetylcholine receptor M2

      See identical proteins and their annotated locations for NP_001006630.1

      Status: REVIEWED

      Source sequence(s)
      AC009264, AC020581, KF458615
      Consensus CDS
      CCDS5843.1
      UniProtKB/Swiss-Prot
      P08172, Q4VBK6, Q9P1X9
      UniProtKB/TrEMBL
      A4D1Q0, Q96RH0
      Conserved Domains (1) summary
      cd15297
      Location:24 → 451
      7tmA_mAChR_M2; muscarinic acetylcholine receptor subtype M2, member of the class A family of seven-transmembrane G protein-coupled receptors

    6. NM_001006630.2 → NP_001006631.1  muscarinic acetylcholine receptor M2

      See identical proteins and their annotated locations for NP_001006631.1

      Status: REVIEWED

      Source sequence(s)
      AC009264, AC020581, KF458615
      Consensus CDS
      CCDS5843.1
      UniProtKB/Swiss-Prot
      P08172, Q4VBK6, Q9P1X9
      UniProtKB/TrEMBL
      A4D1Q0, Q96RH0
      Related
      ENSP00000505686.1, ENST00000680005.1
      Conserved Domains (1) summary
      cd15297
      Location:24 → 451
      7tmA_mAChR_M2; muscarinic acetylcholine receptor subtype M2, member of the class A family of seven-transmembrane G protein-coupled receptors

    7. NM_001006631.3 → NP_001006632.1  muscarinic acetylcholine receptor M2

      See identical proteins and their annotated locations for NP_001006632.1

      Status: REVIEWED

      Source sequence(s)
      AC009264, AC020581, KF458615
      Consensus CDS
      CCDS5843.1
      UniProtKB/Swiss-Prot
      P08172, Q4VBK6, Q9P1X9
      UniProtKB/TrEMBL
      A4D1Q0, Q96RH0
      Conserved Domains (1) summary
      cd15297
      Location:24 → 451
      7tmA_mAChR_M2; muscarinic acetylcholine receptor subtype M2, member of the class A family of seven-transmembrane G protein-coupled receptors

    8. NM_001006632.3 → NP_001006633.1  muscarinic acetylcholine receptor M2

      See identical proteins and their annotated locations for NP_001006633.1

      Status: REVIEWED

      Source sequence(s)
      AC009264, AC020581, KF458615
      Consensus CDS
      CCDS5843.1
      UniProtKB/Swiss-Prot
      P08172, Q4VBK6, Q9P1X9
      UniProtKB/TrEMBL
      A4D1Q0, Q96RH0
      Related
      ENSP00000319984.5, ENST00000320658.9
      Conserved Domains (1) summary
      cd15297
      Location:24 → 451
      7tmA_mAChR_M2; muscarinic acetylcholine receptor subtype M2, member of the class A family of seven-transmembrane G protein-coupled receptors

    9. NM_001378972.1 → NP_001365901.1  muscarinic acetylcholine receptor M2

      Status: REVIEWED

      Source sequence(s)
      AC009264, AC020581, KF458615
      Consensus CDS
      CCDS5843.1
      UniProtKB/Swiss-Prot
      P08172, Q4VBK6, Q9P1X9
      UniProtKB/TrEMBL
      A4D1Q0, Q96RH0
      Conserved Domains (1) summary
      cd15297
      Location:24 → 451
      7tmA_mAChR_M2; muscarinic acetylcholine receptor subtype M2, member of the class A family of seven-transmembrane G protein-coupled receptors

    10. NM_001378973.1 → NP_001365902.1  muscarinic acetylcholine receptor M2

      Status: REVIEWED

      Source sequence(s)
      AC009264, AC020581, KF458615
      Consensus CDS
      CCDS5843.1
      UniProtKB/Swiss-Prot
      P08172, Q4VBK6, Q9P1X9
      UniProtKB/TrEMBL
      A4D1Q0, Q96RH0
      Related
      ENSP00000415386.1, ENST00000453373.5
      Conserved Domains (1) summary
      cd15297
      Location:24 → 451
      7tmA_mAChR_M2; muscarinic acetylcholine receptor subtype M2, member of the class A family of seven-transmembrane G protein-coupled receptors

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      136868652..137020213
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419847.1 → XP_047275803.1  muscarinic acetylcholine receptor M2 isoform X1

      UniProtKB/Swiss-Prot
      P08172, Q4VBK6, Q9P1X9
      UniProtKB/TrEMBL
      A4D1Q0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      138178337..138329898
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357179.1 → XP_054213154.1  muscarinic acetylcholine receptor M2 isoform X1

      UniProtKB/Swiss-Prot
      P08172, Q4VBK6, Q9P1X9
      UniProtKB/TrEMBL
      A4D1Q0

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001006633.1: Suppressed sequence

      Description
      NM_001006633.1: This RefSeq was removed because it is now thought that this gene does not encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P08172.1 GenPept UniProtKB/Swiss-Prot:P08172

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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