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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CHRM3 Gene

protein-coding   GIFtS: 70
GCID: GC01P239549

cholinergic receptor, muscarinic 3

 Explore 43 diseases affiliated with
CHRM3 via our new
 Human Malady Compendium 
Biological research products
for CHRM3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

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
EGBRS2
HM32
Acetylcholine Receptor, Muscarinic 32
M3 Muscarinic Receptor2
Muscarinic Acetylcholine Receptor M32

External Ids:    HGNC: 19521   Entrez Gene: 11312   Ensembl: ENSG000001330197   OMIM: 1184945   UniProtKB: P203093   
ORGUL members:         
NONCODE:n338589    

Export aliases for CHRM3 gene to outside databases

Previous GC identifers: GC01P238144 GC01P235523 GC01P235846 GC01P237111 GC01P236396 GC01P237858 GC01P210250


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CHRM3:
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)

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:
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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_167186.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CHRM3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ACM3_HUMAN, P20309 (See protein sequence)
Recommended Name: Muscarinic acetylcholine receptor M3  
Size: 590 amino acids; 66128 Da
Subcellular location: Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane;
Multi-pass membrane protein. Basolateral cell membrane; Multi-pass membrane protein
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P20309

  • CHRM3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000731.1  
    ENSEMBL proteins: 
     ENSP00000255380   ENSP00000404764  
    Reactome Protein details: P20309
    Human Recombinant Protein Products: 
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    Uscn Proteins for CHRM3

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS3443095
    GO:0016021integral to membrane ----
    GO:0016323basolateral plasma membrane IEA--
    GO:0030054cell junction IEA--


    CHRM3 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CHRM3


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CHRM3 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR017452 GPCR_Rhodpsn_7TM
     IPR001183 Musac_M3_rcpt
     IPR000995 Musac_rcpt
     IPR000276 GPCR_Rhodpsn

    Graphical View of Domain Structure for InterPro Entry P20309

    ProtoNet protein and cluster: P20309

    2 Blocks protein families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

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

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidCHRM3 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CHRM3 (see all 7)
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRM3

    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004435phosphatidylinositol phospholipase C activity TAS1905013
    GO:0004872receptor activity TAS10940357
    GO:0008144drug binding IEA--
    GO:0016907G-protein coupled acetylcholine receptor activity IEA--
    GO:0042166acetylcholine binding IEA--


    CHRM3 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for CHRM3: Chrm3tm1Mmt Chrm3tm1Jwe
         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  homeostasis/metabolism  liver/biliary system  muscle  nervous system 
     renal/urinary system  respiratory system  vision/eye 

    CHRM3 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/16 super-pathways (see all 16About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Class A/1 (Rhodopsin-like receptors)
    Class A/1 (Rhodopsin-like receptors)1.00
    GPCRs, Class A Rhodopsin-like0.41
    GPCR ligand binding0.75
    Neuroactive ligand-receptor interaction0.38
    2Signaling by GPCR
    Signaling by GPCR1.00
    Signal Transduction0.56
    GPCR downstream signaling0.89
    3G alpha (q) signalling events
    G alpha (q) signalling events1.00
    Gastrin-CREB signalling pathway via PKC and MAPK0.90
    4Regulation of Insulin Secretion
    Regulation of Insulin Secretion1.00
    Integration of energy metabolism0.74
    5Regulation of Actin Cytoskeleton
    Regulation of Actin Cytoskeleton1.00
    Regulation of actin cytoskeleton0.58

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    5/13        Reactome Pathways for CHRM3 (see all 13)
        GPCR downstream signaling
    Gastrin-CREB signalling pathway via PKC and MAPK
    Metabolism
    Regulation of Insulin Secretion
    Signaling by GPCR

    1 PharmGKB Pathway for CHRM3
        Proton Pump Inhibitor Pathway, Pharmacodynamics

    5/7         Kegg Pathways  (Kegg details for CHRM3) (see all 7):
        Calcium signaling pathway
    Neuroactive ligand-receptor interaction
    Cholinergic synapse
    Regulation of actin cytoskeleton
    Salivary secretion


    CHRM3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CHRM3

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

    5/155 Interacting proteins for CHRM3 (P203092, 3 ENSP000002553804) via UniProtKB, MINT, STRING, and/or I2D (see all 155)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NALCNQ8IZF02, 3, ENSP000002511274MINT-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
    GNAQP501483, ENSP000002865484I2D: score=1 STRING: ENSP00000286548
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CHRM3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for CHRM3

    Compounds for CHRM3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Oxotremorine sesquifumarateMuscarinic agonist[17360-35-9]
    J 104129 fumarate Potent, selective M3 antagonist [244277-89-2]
    Zamifenacin fumarateSelective M3 antagonist[127308-98-9]
    DAU 5884 hydrochlorideM3 receptor antagonist[131780-47-7]
    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--

    10/55 DrugBank Compounds for CHRM3 (see all 55)    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

    10/54 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about CHRM3 / ACM3 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    Additional cDNA 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 

    24/32 AceView cDNA sequences (see all 32):

    CA390548 AW611918 CA395561 BM128379 NM_000740 BM128615 T28795 AF498917 
    AK074575 BM462969 CD654050 BF966880 AF279779 CA394725 AK056349 CB528690 
    BF311874 T23501 BI196876 BP360731 AF385589 CB565880 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CHRM3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTTCTGGTGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See CHRM3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHRM3

    SOURCE GeneReport for Unigene cluster: Hs.7138
        SABiosciences Expression via Pathway-Focused PCR Array including CHRM3: 
              G Protein Coupled Receptors 384HT in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRM3

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CHRM3 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    76(a)
    1 ↔ 1
    1(217192274-217194085)
    zebrafish
    (Danio rerio)
    Actinopterygii chrm3a1 cholinergic receptor, muscarinic 3a 63.51(n)
    64.5(a)
      571679  XM_695289.5  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
    Muscarinic acetylcholine receptor gar-3
    30(a)
    1 → many
    V(14564737-14579704)


    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)
    About This Section
    Paralogs for CHRM3 gene
    HRH42  CHRM52  HRH12  CHRM12  CHRM22  HRH32  CHRM42  
    8 SIMAP similar genes for CHRM3 using alignment to 4 protein entries:     ACM3_HUMAN (see all proteins):
    CHRM5    CHRM1    CHRM2    CHRM4    hA2aR    HRH3
    HTR5A    HRH1

    CHRM3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/5041 NCBI SNPs in CHRM3 are shown (see all 5041    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs618365931,2
    C,F,--210252066(+) TTTTAA/CTGATA 1 -- int15Minor allele frequency- C:0.09NA CSA WA 243
    rs757671521,2
    F,--210252469(+) CAGAGC/ATGATT 1 -- int11Minor allele frequency- A:0.03WA 118
    rs753976051,2
    --210252484(+) GTTGTG/TACCCA 1 -- int11Minor allele frequency- T:0.01NA 120
    rs7261681,2
    C,F,O,A,H,--210252774(-) TATCCC/TTTCTT 1 -- int1 trp315Minor allele frequency- T:0.15MN NS EA NA CSA WA 2156
    rs120887871,2
    C,F,H,--210253050(+) CTCCAC/TATGCA 1 -- int118Minor allele frequency- T:0.05NS EA NA 2194
    rs168385781,2
    C,F,H,--210253332(+) TGGAGG/TTACTT 1 -- int18Minor allele frequency- T:0.01NA NS 836
    rs66566541,2
    H--210253543(+) CCATAC/ATAGCC 1 -- int14Minor allele frequency- A:0.00NS EA 420
    rs1451959381,2
    C,--210253900(+) TAATCC/TCATAT 1 -- int10--------
    rs1876515811,2
    C,--210253907(+) ATATTA/TTTGTT 1 -- int10--------
    rs412693671,2
    C,--210253963(+) AATAAA/GTGACA 1 -- ut510--------

    HapMap Linkage Disequilibrium report for CHRM3 (239549865 - 239799865 bp, first 250kb of CHRM3)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for CHRM3
         3 CNVs: 3337 8351 2354
         2 Indels: 59993 44534
    Human Gene Mutation Database (HGMD): CHRM3

    3 SABiosciences Cancer Mutation PCR Assays for CHRM3:
    Cosmic IdAA Change
    109057p.P428S
    141854p.P421L
    141853p.P421S
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CHRM3 for disorders           About GeneDecksing

    OMIM gene information: 118494    OMIM disorders: --

    UniProtKB/Swiss-Prot: ACM3_HUMAN, P20309
  • Defects in CHRM3 are the cause of Eagle-Barrett syndrome (EGBRS) [MIM:100100]. EGBRS is a syndrome
  • characterized by thin abdominal musculature with overlying lax skin, cryptorchism, megacystis with disorganized
    detrusor muscle, and urinary tract abnormalities

    20/43 diseases for CHRM3 (see all 43):    About MalaCards
    central nervous system disease    nervous system disease    cholinergic urticaria    urinary tract obstruction
    neurogenic bladder    fetal alcohol syndrome    sjogren's syndrome    irritable bowel syndrome
    chronic obstructive pulmonary disease    bronchial asthma    urticaria    pulmonary disease
    pyelonephritis    nephrolithiasis    asthma    colon cancer
    multiple sclerosis    atopy    astrocytoma    parkinson's disease

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

    10/14 Novoseek 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)
    About This Section

    PubMed articles for CHRM3 gene, integrated from 9 sources (see all 414):
    (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 cigarett e smoke-induced IL-8 secretion by human airway smooth muscle cells. (PubMed id 19460789)1, 7, 9 Gosens R....Zuyderduyn S. (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. (2003)
    3. 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. (2011)
    4. Comparison of selective M3 and nonselective muscarini c receptor antagonists on gastrointestinal transit and bowel habits in humans. (PubMed id 20395537)1, 7 Bharucha A.E....Zinsmeister A.R. (2010)
    5. Role of muscarinic receptor activation in regulating immune cell activity in nasal mucosa. (PubMed id 19951374)1, 7 Liu T....Yang P.C. (2010)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    7. Identification and structural determination of the M(3) muscarinic acetylcholine receptor basolateral sorting signal. (PubMed id 15870063)1, 2 Iverson H.A.... Nathanson N.M. (2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Mutation screening of the muscarinic m2 and m3 receptor genes in asthmatics, outgrow subjects, and normal controls. (PubMed id 12381439)1, 4 Yamamoto T....Ohta K. (2002)
    10. Antisense promoter of human L1 retrotransposon drives transcription of adjacent cellular genes. (PubMed id 11238933)1, 2 Speek M. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 1131 HGNC: 1952 AceView: CHRM3 Ensembl:ENSG00000133019 euGenes: HUgn1131
    ECgene: CHRM3 Kegg: 1131 H-InvDB: CHRM3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    Advanced Cell Diagnostics
    About This Section

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