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CHRM3 Gene

protein-coding   GIFtS: 72
GCID: GC01P239549

Cholinergic Receptor, Muscarinic 3

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Cholinergic Receptor, Muscarinic 31 2     HM32
EGBRS2 5     Acetylcholine Receptor, Muscarinic 32
Acetylcholine Receptor1     M3 Muscarinic Receptor2
Muscarinic 31     Muscarinic Acetylcholine Receptor M32

External Ids:    HGNC: 19521   Entrez Gene: 11312   Ensembl: ENSG000001330197   OMIM: 1184945   UniProtKB: P203093   
ORGUL members:         

Export aliases for CHRM3 gene to outside databases

Previous GC identifers: GC01P238144 GC01P235523 GC01P235846 GC01P237111 GC01P236396 GC01P237858 GC01P210250


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CHRM3 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 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 3 controls smooth muscle contraction and its stimulation causes secretion of glandular
tissue. (provided by RefSeq, Jul 2008)

GeneCards Summary for CHRM3 Gene:
CHRM3 (cholinergic receptor, muscarinic 3) is a protein-coding gene. Diseases associated with CHRM3 include cholinergic urticaria, and prune belly syndrome. GO annotations related to this gene include phosphatidylinositol phospholipase C activity and receptor activity. An important paralog of this gene is HTR2A.

UniProtKB/Swiss-Prot: ACM3_HUMAN, P20309
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 Pi turnover

summary for CHRM3 Gene:
Muscarinic receptors are widely distributed throughout the body and control distinct functions according to
location and subtype (M1, M2, M3, M4, M5). They are predominantly expressed in the parasympathetic nervous
system where they exert both inhibitory and excitatory effects. Muscarinic receptor agonists and antagonists
could prove useful in the research and treatment of a wide range of central nervous system diseases
including Alzheimer's and Parkinson's.

Gene Wiki entry for CHRM3 (Muscarinic acetylcholine receptor M3) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_167186.2  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHRM3 gene promoter:
         AP-2alpha isoform 3   HTF   AP-2alpha isoform 2   POU2F1a   FOXO4   FOXJ2 (long isoform)   AP-2alpha isoform 4   FOXJ2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHRM3 promoter sequence
   Search Chromatin IP Primers for CHRM3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHRM3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q43   Ensembl cytogenetic band:  1q43   HGNC cytogenetic band: 1q43

CHRM3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHRM3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P239549:  view genomic region     (about GC identifiers)

Start:
239,549,865 bp from pter      End:
240,078,750 bp from pter
Size:
528,886 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for CHRM3

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ACM3_HUMAN, P20309 (See protein sequence)
Recommended Name: Muscarinic acetylcholine receptor M3  
Size: 590 amino acids; 66128 Da
1 PDB 3D structure from and Proteopedia for CHRM3:
2CSA (3D)    
Secondary accessions: Q0VAJ8 Q4QRI3 Q5VXY2 Q9HB60

Explore the universe of human proteins at neXtProt for CHRM3: NX_P20309

Explore proteomics data for CHRM3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn5, Asn6, Asn15, Asn41, Asn48
  • Modification sites at PhosphoSitePlus

  • See CHRM3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000731.1  
    ENSEMBL proteins: 
     ENSP00000255380   ENSP00000404764  
    Reactome Protein details: P20309

    CHRM3 Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant CHRM3 Protein
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    OriGene Protein Over-expression Lysate for CHRM3
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    Novus Biologicals CHRM3 Proteins
    Novus Biologicals CHRM3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CHRM3

    CHRM3 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for CHRM3

    CHRM3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript CHRM3-overexpressing Cell Line for Assay
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    Cloud-Clone Corp. ELISAs for CHRM3
    Cloud-Clone Corp. CLIAs for CHRM3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CHRM: GPCR / Class A : Cholinergic receptors, muscarinic
    CHR: Cholinergic receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: M3 receptor
    Acetylcholine receptors (muscarinic)

    4 InterPro protein domains:
     IPR017452 GPCR_Rhodpsn_7TM
     IPR001183 Musac_Ach_M3_rcpt
     IPR000995 Musac_Ach_rcpt
     IPR000276 GPCR_Rhodpsn

    Graphical View of Domain Structure for InterPro Entry P20309

    ProtoNet protein and cluster: P20309

    2 Blocks protein domains:
    IPB000995 Muscarinic acetylcholine receptor signature
    IPB001183 Muscarinic M3 receptor signature


    UniProtKB/Swiss-Prot: ACM3_HUMAN, P20309
    Similarity: Belongs to the G-protein coupled receptor 1 family. Muscarinic acetylcholine receptor subfamily. CHRM3
    sub-subfamily


    CHRM3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACM3_HUMAN, P20309
    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 Pi turnover

         Genatlas biochemistry entry for CHRM3:
    cholinergic receptor,muscarinic 3,G protein coupled receptor superfamily

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004435phosphatidylinositol phospholipase C activity TAS1905013
    GO:0004872receptor activity TAS10940357
    GO:0004930G-protein coupled receptor activity ----
    GO:0005515protein binding IPI19575010
    GO:0008144drug binding IEA--
         
    CHRM3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CHRM3:
     Increased cell number in G1, s 

         13 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Chrm3):
     adipose tissue  behavior/neurological  cardiovascular system  digestive/alimentary  endocrine/exocrine gland 
     growth/size/body  homeostasis/metabolism  liver/biliary system  muscle  nervous system 
     renal/urinary system  respiratory system  vision/eye 

    CHRM3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CHRM3: Chrm3tm1Mmt Chrm3tm1Jwe

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CHRM3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CHRM3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHRM3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CHRM3

    miRNA
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    miRTarBase miRNAs that target CHRM3:
    hsa-mir-335-5p (MIRT018504), hsa-mir-296-3p (MIRT038434)

    Block miRNA regulation of human, mouse, rat CHRM3 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate CHRM3
    SwitchGear 3'UTR luciferase reporter plasmidCHRM3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CHRM3

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: CHRM3 (NM_000740)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHRM3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHRM3

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRM3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACM3_HUMAN, P20309: Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell
    membrane; Multi-pass membrane protein. Basolateral cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton1
    cytosol1
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IEA--
    GO:0016021integral component of membrane ----
    GO:0016323basolateral plasma membrane IEA--
    GO:0030054cell junction IEA--

    CHRM3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CHRM3 About   (see all 15)  
    See pathways by source

    SuperPathContained pathways About
    1Peptide ligand-binding receptors
    Class A/1 (Rhodopsin-like receptors)0.71
    GPCRs, Class A Rhodopsin-like0.43
    GPCR ligand binding0.71
    Neuroactive ligand-receptor interaction0.36
    2Monoamine GPCRs
    Monoamine GPCRs0.79
    Muscarinic acetylcholine receptors0.00
    Amine ligand-binding receptors0.79
    3Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    Regulation of Actin Cytoskeleton0.57
    4Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    5Integration of energy metabolism
    Integration of energy metabolism0.75
    Regulation of Insulin Secretion by Acetylcholine0.00
    Regulation of Insulin Secretion0.75

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 BioSystems Pathways for CHRM3
        Calcium Regulation in the Cardiac Cell
    GPCRs, Other
    Regulation of Actin Cytoskeleton
    GPCRs, Class A Rhodopsin-like
    Monoamine GPCRs

    3 Reactome Pathways for CHRM3
        Acetylcholine regulates insulin secretion
    G alpha (q) signalling events
    Muscarinic acetylcholine receptors

    1 PharmGKB Pathway for CHRM3
        Proton Pump Inhibitor Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for CHRM3) (see all 8):
        Calcium signaling pathway
    Neuroactive ligand-receptor interaction
    Cholinergic synapse
    Regulation of actin cytoskeleton
    Insulin secretion


    CHRM3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including CHRM3: 
              G Protein Coupled Receptors 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CHRM3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CHRM3 (P203091, 2, 3 ENSP000002553804) via UniProtKB, MINT, STRING, and/or I2D (see all 157)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NALCNQ8IZF01, 2, 3, ENSP000002511274EBI-2687785,EBI-7085333 MINT-7255462 MINT-7255449 MINT-7255436 I2D: score=1 STRING: ENSP00000251127
    PPP1R9BQ96SB32, 3MINT-4953558 I2D: score=2 
    ARF1P840773, ENSP000002721024I2D: score=2 STRING: ENSP00000272102
    GPRASP1Q5JY773, ENSP000003551464I2D: score=2 STRING: ENSP00000355146
    CAMK2AQ9UQM73, ENSP000003814124I2D: score=1 STRING: ENSP00000381412
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003056regulation of vascular smooth muscle contraction IEA--
    GO:0006112energy reserve metabolic process TAS--
    GO:0006464cellular protein modification process TAS10051746
    GO:0006939smooth muscle contraction IEA--
    GO:0007165signal transduction TAS10940357

    CHRM3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for CHRM3
      Browse compounds at ApexBio 

    Compounds for CHRM3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    J 104129 fumarate Potent, selective M3 antagonist [244277-89-2]
    DAU 5884 hydrochlorideM3 receptor antagonist[131780-47-7]
    Zamifenacin fumarateSelective M3 antagonist[127308-98-9]
    4-DAMPMuscarinic M3 antagonist[1952-15-4]

    1 HMDB Compound for CHRM3    About this table
    CompoundSynonyms CAS #PubMed Ids
    OlanzapineLanzac (see all 5)132539-06-1--

    Selected DrugBank Compounds for CHRM3 (see all 56)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    OxybutyninOxibutinina [INN-Spanish] (see all 10)5633-20-5targetantagonist16406943 17139284 19275276 11752352 17016423 20590605 19446545 17222678
    Solifenacin-- 242478-37-1targetantagonist17139284 11752352 17016423 19029429 20590605 19446545
    DiphenidolDifenidol (see all 7)972-02-1targetantagonist12185001 1863523 17139284 10530931 17016423
    CevimelineCevimeline hydrochloride (see all 3)107233-08-9targetagonist17139284 11752352 17016423 18450949
    Darifenacin-- 133099-04-4targetantagonist19416629 20395537 11752352 18046909
    Homatropine Methylbromide-- 80-49-9targetantagonist17139284 11124384 17016423 6893558
    Methacholine-- 55-92-5targetagonist19460789 20347047 20888332 19951374
    OxyphencyclimineOxifencicliminum [INN-Spanish] (see all 4)125-53-1targetantagonist3247303 17139284 1426023 17016423
    Tiotropium-- 186691-13-4targetantagonist10188785 11752352 11281822 12582447
    TolterodineTolterodina [INN-Spanish] (see all 7)124937-51-5targetantagonist14769832 19168050 11752352 11193006

    Selected IUPHAR Ligands for CHRM3 (M3 receptor) (see all 58)    About this table
    LigandTypeActionAffinityPubmed IDs
    tiotropium
    AntagonistAntagonist11.116847442
    N-methyl scopolamine
    AntagonistAntagonist10.416847442
    [3H]QNB
    AntagonistAntagonist10.43443095
    [3H]N-methyl scopolamine
    AntagonistAntagonist8.6 - 10.49846649 11303071 16369696 12235229 12049493 9224827 7651370 7925952
    propantheline
    AntagonistAntagonist1012049493
    atropine
    AntagonistAntagonist8.9 - 9.816847442 11303071 3443095 9029489 12049493 2704370
    ipratropium
    AntagonistAntagonist9.3 - 9.816847442 11303071
    clidinium
    AntagonistAntagonist9.616847442
    [3H]darifenacin
    AntagonistAntagonist9.59029489
    scopolamine
    AntagonistAntagonist9.412049493

    Selected Novoseek inferred chemical compound relationships for CHRM3 gene (see all 54)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    methoctramine 90.6 8 9113359 (1), 1629233 (1), 1380397 (1), 1596672 (1) (see all 8)
    pirenzepine 89.2 7 1629233 (1), 1380397 (1), 1319463 (1), 1772355 (1) (see all 6)
    4-diphenylacetoxy-n-methylpiperidine methiodide 89.1 12 1629233 (1), 7912992 (1), 12657852 (1), 7604457 (1) (see all 6)
    darifenacin 87.7 11 15839920 (2), 16100298 (2), 15493952 (1), 17309345 (1) (see all 9)
    carbachol 87.1 39 9636140 (1), 7599930 (1), 7957182 (1), 8832588 (1) (see all 36)
    pfhhsid 85.2 1 8564213 (1)
    hexahydrosiladifenidol 84.4 8 8937715 (1), 8564213 (1), 1940918 (1)
    zamifenacin 84.3 2 10188786 (1), 10580922 (1)
    5,11-dihydro-6h-pyrido(2,3-b)(1,4)benzodiazepin-6-one 81.7 1 9214706 (1)
    tiotropium 79.4 11 19281093 (1), 17136995 (1), 13680472 (1), 15559443 (1) (see all 7)



    CHRM3 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CHRM3 gene: 
    NM_000740.2  

    Unigene Cluster for CHRM3:

    Cholinergic receptor, muscarinic 3
    Hs.7138  [show with all ESTs]
    Unigene Representative Sequence: NM_000740
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000468573(uc001hyo.1) ENST00000492335 ENST00000481779 ENST00000255380(uc001hyp.3)
    ENST00000487470 ENST00000448020
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
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    Search for qRT-PCR Assays for microRNAs that regulate CHRM3
    SwitchGear 3'UTR luciferase reporter plasmidCHRM3 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CHRM3
    Predesigned siRNA for gene silencing in human, mouse, rat CHRM3
    Clone
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    OriGene clones in human, mouse for CHRM3 (see all 7)
    OriGene ORF clones in mouse, rat for CHRM3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CHRM3 (NM_000740)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHRM3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHRM3
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CHRM3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CHRM3
      QuantiTect SYBR Green Assays in human, mouse, rat CHRM3
      QuantiFast Probe-based Assays in human, mouse, rat CHRM3

    Additional mRNA sequence: 

    AF279779.1 AF385589.1 AF498917.1 AK056349.1 AK074575.1 BC096844.1 BC121026.2 BC121027.2 

    5 DOTS entries:

    DT.309020  DT.70102224  DT.121429975  DT.100019144  DT.99982637 

    Selected AceView cDNA sequences (see all 32):

    CA390548 BM462969 AW611918 BM128379 AF498917 BM128615 NM_000740 T28795 
    CA395561 AK074575 BP360731 CD654050 BI196876 AK056349 CA394725 CB528690 
    CB565880 BF311874 AF279779 T23501 AF385589 BF966880 AA349743 BP370844 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CHRM3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTCTGGTGA
    CHRM3 Expression
    About this image


    CHRM3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Oligodendrocyte Precursor Cells Forebrain White Matter
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    CHRM3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHRM3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.7138
        Pathway & Disease-focused RT2 Profiler PCR Array including CHRM3: 
              G Protein Coupled Receptors 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CHRM3 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chrm31 , 5 cholinergic receptor, muscarinic 3, cardiac1, 5 87.04(n)1
    91.85(a)1
      13 (3.72 cM)5
    126711  NM_033269.41  NP_150372.11 
     98772295 
    chicken
    (Gallus gallus)
    Aves CHRM31 cholinergic receptor, muscarinic 3 76.6(n)
    81.43(a)
      396364  NM_205399.1  NP_990730.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHRM36
    cholinergic receptor, muscarinic 3
    76(a)
    1 ↔ 1
    1(217192274-217194085)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004935471 muscarinic acetylcholine receptor M3-like 65.04(n)
    69.79(a)
      100493547  XM_002935830.2  XP_002935876.1 
    zebrafish
    (Danio rerio)
    Actinopterygii chrm3a1 cholinergic receptor, muscarinic 3a 64.77(n)
    67.19(a)
      571679  XM_695289.6  XP_700381.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta mAcR-60C3 acetyl choline receptor signaling,
    muscarinic more
    60(a)
    (best of 2)
      60C7   --
    worm
    (Caenorhabditis elegans)
    Secernentea gar-36
    Protein GAR-3, isoform b (gar-3) mRNA, complete cd...
    32(a)
    1 → many
    V(14564752-14579719) WBGene00001519


    ENSEMBL Gene Tree for CHRM3 (if available)
    TreeFam Gene Tree for CHRM3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CHRM3 gene
    HTR2A2  DRD42  DRD22  CHRM12  CHRM22  HRH32  HTR2B2  HRH42  
    HTR2C2  HRH12  CHRM52  DRD32  CHRM42  
    7 SIMAP similar genes for CHRM3 using alignment to 4 protein entries:     ACM3_HUMAN (see all proteins):
    CHRM5    CHRM1    CHRM2    CHRM4    hA2aR    HRH3
    HTR5A

    CHRM3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CHRM3 (see all 5524)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs792691231,2
    C--210262589(+) TCAGTT/ATCCAT 1 -- int12Minor allele frequency- A:0.00NA 4
    rs350943701,2
    C--210294133(+) CCACT-/AC    
       
    /ACAC
    ACACA
    1 -- int10--------
    rs717582391,2
    C--210302259(+) GTGCATG/-TGTGT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1439719181,2
    C--210302259(+) GTGCA-/TGTG  
            
    TGTGT
    1 -- int10--------
    rs38319781,2
    C--210306293(-) TTTCT-/CTTT  
     CT
    /TTCT
    TTCTC
    1 -- int10--------
    rs3725554111,2
    C--210306298(+) GAAAG-/AAAGAAA 1 -- int10--------
    rs106804861,2
    C--210307549(+) TCTCA-/AAAC  
            
    AAACa
    1 -- int10--------
    rs1386266351,2
    C--210309769(+) ATAAT-/ATACAC
            
    ATACA
    1 -- int10--------
    rs1997314161,2
    --210311630(+) GAGAG-/ACACACA 1 -- int10--------
    rs668294581,2
    C--210363620(+) TTTGT-/ATTTTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for CHRM3 (239549865 - 239799865 bp, first 250kb of CHRM3)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CHRM3 (see all 18):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2725862CNV Deletion23290073
    esv2376547CNV Deletion18987734
    esv2725851CNV Deletion23290073
    esv1778820CNV Insertion17803354
    nsv506986CNV Insertion20534489
    nsv5065CNV Insertion18451855
    nsv508067CNV Loss20534489
    nsv873352CNV Loss21882294
    nsv873351CNV Gain21882294
    esv35011CNV Gain17911159

    Human Gene Mutation Database (HGMD): CHRM3
    3 Site Specific Mutation Identification with PCR Assays for CHRM3:
    Cosmic IdAA Change
    109057p.P428S
    141854p.P421L
    141853p.P421S
    SeqTarget long-range PCR primers for resequencing CHRM3
    DNA2.0 Custom Variant and Variant Library Synthesis for CHRM3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 118494   
    OMIM disorders: 100100  
    UniProtKB/Swiss-Prot: ACM3_HUMAN, P20309
  • Eagle-Barrett syndrome (EGBRS) [MIM:100100]: A syndrome characterized by thin abdominal musculature with
    overlying lax skin, cryptorchism, megacystis with disorganized detrusor muscle, and urinary tract abnormalities.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for CHRM3 (see all 45):    
    About MalaCards
    cholinergic urticaria    prune belly syndrome    nervous system disease    central nervous system disease
    bladder disease    urinary tract obstruction    neurogenic bladder    fetal alcohol syndrome
    sjogren's syndrome    pain agnosia    urticaria    agnosia
    pyelonephritis    irritable bowel syndrome    pulmonary disease, chronic obstructive    nephrolithiasis
    venous thrombosis    atopy    astrocytoma    myopia

    3 diseases from the University of Copenhagen DISEASES database for CHRM3:
    Nephrolithiasis     Pain agnosia     Urinary tract obstruction

    CHRM3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for CHRM3 gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    overactive bladder 67.5 8 15839920 (2), 16100298 (2), 15493952 (1), 16096831 (1) (see all 6)
    xerostomia 58.8 3 17899308 (1), 12974516 (1), 17914991 (1)
    sjogrens syndrome 57.3 4 15866705 (1), 16014696 (1), 11850533 (1), 15030576 (1)
    sjogrens syndrome primary 55.5 5 9099930 (1), 9430556 (1), 15353609 (1), 11850533 (1) (see all 5)
    astrocytoma 47.8 2 7935319 (1), 16280122 (1)
    pulmonary disease chronic obstructive 42.5 1 10069502 (1)
    leukemia basophilic 25.2 2 7557261 (1), 15467192 (1)
    lung diseases obstructive 13.5 1 16870658 (1)
    colon cancer 10.9 10 12379313 (2), 14583469 (2), 19221016 (2), 18653726 (1) (see all 5)
    asthma 10.2 2 12642833 (2)

    Genetic Association Database (GAD): CHRM3
    Human Genome Epidemiology (HuGE) Navigator: CHRM3 (19 documents)

    Export disorders for CHRM3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CHRM3 gene, integrated from 10 sources (see all 429):
    (articles sorted by number of sources associating them with CHRM3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Muscarinic M3 receptor stimulation increases cigarette smoke-induced IL-8 secretion by human airway smooth muscle cells. (PubMed id 19460789)1, 7, 9 Gosens R....Zuyderduyn S. (Eur. Respir. J. 2009)
    2. Sequence variation in the promoter region of the cholinergic receptor muscarinic 3 gene and asthma and atopy. (PubMed id 12642833)1, 4, 9 Donfack J....Ober C. (J. Allergy Clin. Immunol. 2003)
    3. CHRM3 gene variation is associated with decreased acute insulin secretion and increased risk for early-onset type 2 diabetes in Pima Indians. (PubMed id 17130513)1, 4, 9 Guo Y....Prochazka M. (Diabetes 2006)
    4. Family-based analysis of genetic variation underlying psychosis-inducing effects of cannabis: sibling analysis and proband follow-up. (PubMed id 21041608)1, 4 van Winkel R. (Arch. Gen. Psychiatry 2011)
    5. Muscarinic acetylcholine receptor M3 mutation causes urinary bladder disease and a prune-belly-like syndrome. (PubMed id 22077972)1, 2 Weber S.... Woolf A.S. (Am. J. Hum. Genet. 2011)
    6. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)1, 4 RuaA+o G....Wu A.H. (Pharmacogenomics 2010)
    7. Comparison of selective M3 and nonselective muscarinic receptor antagonists on gastrointestinal transit and bowel habits in humans. (PubMed id 20395537)1, 7 Bharucha A.E....Zinsmeister A.R. (Am. J. Physiol. Gastrointest. Liver Physiol. 2010)
    8. Role of muscarinic receptor activation in regulating immune cell activity in nasal mucosa. (PubMed id 19951374)1, 7 Liu T....Yang P.C. (Allergy 2010)
    9. Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis. (PubMed id 19156168)1, 4 Need A.C....Goldstein D.B. (Eur. J. Hum. Genet. 2009)
    10. Analyses of associations with asthma in four asthma population samples from Canada and Australia. (PubMed id 19247692)1, 4 Daley D....Hudson T.J. (Hum. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1131 HGNC: 1952 AceView: CHRM3 Ensembl:ENSG00000133019 euGenes: HUgn1131
    ECgene: CHRM3 Kegg: 1131 H-InvDB: CHRM3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CHRM3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CHRM3 gene:
    Search GeneIP for patents involving CHRM3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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