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 ... See more...

Aliases for CHRM3 Gene

Aliases for CHRM3 Gene

  • Cholinergic Receptor Muscarinic 3 2 3 5
  • Muscarinic Acetylcholine Receptor M3 3 4
  • Acetylcholine Receptor, Muscarinic 3 2 3
  • M3 Muscarinic Receptor 3
  • EGBRS 3
  • HM3 3
  • PBS 3

External Ids for CHRM3 Gene

Previous GeneCards Identifiers for CHRM3 Gene

  • GC01P238144
  • GC01P235523
  • GC01P235846
  • GC01P237111
  • GC01P236396
  • GC01P237858
  • GC01P239549
  • GC01P210250

Summaries for CHRM3 Gene

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. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]

GeneCards Summary for CHRM3 Gene

CHRM3 (Cholinergic Receptor Muscarinic 3) is a Protein Coding gene. Diseases associated with CHRM3 include Prune Belly Syndrome and Cholinergic Urticaria. Among its related pathways are Monoamine GPCRs and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and drug binding. An important paralog of this gene is CHRM5.

UniProtKB/Swiss-Prot Summary for CHRM3 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 Pi turnover.

Tocris Summary for CHRM3 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 CHRM3 Gene

Additional gene information for CHRM3 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHRM3 Gene

Genomics for CHRM3 Gene

GeneHancer (GH) Regulatory Elements for CHRM3 Gene

Promoters and enhancers for CHRM3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J239386 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas 500.7 +0.7 736 3.4 USF1 CTCF ZIC2 ZBTB10 POLR2A ZBTB26 MXI1 EZH2 HDAC2 SMC3 CHRM3 lnc-CHRM3-1 RF01045-017
GH01J239771 Promoter 0.3 EPDnew 500 +384.9 384897 0.1 CHRM3-AS2 CHRM3 piR-42002-001 lnc-CHRM3-1
GH01J239717 Promoter/Enhancer 1.1 Ensembl ENCODE dbSUPER 11.3 +333.2 333225 5.3 EP300 TRIM28 GATA3 GABPA SPI1 REST RCOR1 POLR2A MYC MAX CHRM3-AS2 CHRM3 HE856000 piR-32461-013 lnc-CHRM3-1
GH01J239361 Enhancer 0.6 FANTOM5 Ensembl 17.4 -24.7 -24670 1 FOS EZH2 ZFHX2 STAT3 EGR2 HSALNG0011878 CHRM3 lnc-CHRM3-1
GH01J239408 Promoter 0.7 Ensembl 13.1 +21.8 21836 0.8 HCFC1 POLR2A POLR2H ZNF335 REST L3MBTL2 ZNF384 ZNF362 CHRM3 RF01045-017 lnc-CHRM3-1 piR-56341-009
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHRM3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHRM3

Top Transcription factor binding sites by QIAGEN in the CHRM3 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXO4
  • HTF
  • POU2F1a

Genomic Locations for CHRM3 Gene

Genomic Locations for CHRM3 Gene
chr1:239,386,565-239,915,452
(GRCh38/hg38)
Size:
528,888 bases
Orientation:
Plus strand
chr1:239,549,865-240,078,750
(GRCh37/hg19)
Size:
528,886 bases
Orientation:
Plus strand

Genomic View for CHRM3 Gene

Genes around CHRM3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHRM3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHRM3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHRM3 Gene

Proteins for CHRM3 Gene

  • Protein details for CHRM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20309-ACM3_HUMAN
    Recommended name:
    Muscarinic acetylcholine receptor M3
    Protein Accession:
    P20309
    Secondary Accessions:
    • Q0VAJ8
    • Q4QRI3
    • Q5VXY2
    • Q9HB60

    Protein attributes for CHRM3 Gene

    Size:
    590 amino acids
    Molecular mass:
    66128 Da
    Quaternary structure:
    • Homodimer; the dimers can form tetramers (PubMed:23521066). Interacts with NALCN (By similarity).

    Three dimensional structures from OCA and Proteopedia for CHRM3 Gene

neXtProt entry for CHRM3 Gene

Post-translational modifications for CHRM3 Gene

  • Glycosylation at Asn5, Asn6, Asn15, Asn41, and Asn48
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CHRM3 Gene

Domains & Families for CHRM3 Gene

Gene Families for CHRM3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted membrane proteins

Protein Domains for CHRM3 Gene

Blocks:
  • Muscarinic acetylcholine receptor signature
  • Muscarinic M3 receptor signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CHRM3 Gene

GenScript: Design optimal peptide antigens:
  • Muscarinic acetylcholine receptor M3 (ACM3_HUMAN)
  • M3 muscarinic receptor (Q8NG01_HUMAN)
  • M3 muscarinic cholinergic receptor (Q96RG9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20309

UniProtKB/Swiss-Prot:

ACM3_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family. Muscarinic acetylcholine receptor subfamily. CHRM3 sub-subfamily.
Family:
  • Belongs to the G-protein coupled receptor 1 family. Muscarinic acetylcholine receptor subfamily. CHRM3 sub-subfamily.
genes like me logo Genes that share domains with CHRM3: view

Function for CHRM3 Gene

Molecular function for CHRM3 Gene

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 Pi turnover.
GENATLAS Biochemistry:
cholinergic receptor,muscarinic 3,G protein coupled receptor superfamily

Phenotypes From GWAS Catalog for CHRM3 Gene

Gene Ontology (GO) - Molecular Function for CHRM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004435 phosphatidylinositol phospholipase C activity TAS 1905013
GO:0004930 G protein-coupled receptor activity IBA 21873635
GO:0004993 G protein-coupled serotonin receptor activity IBA 21873635
GO:0005515 protein binding IPI 19575010
GO:0008144 drug binding IEA --
genes like me logo Genes that share ontologies with CHRM3: view
genes like me logo Genes that share phenotypes with CHRM3: view

Human Phenotype Ontology for CHRM3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHRM3 Gene

MGI Knock Outs for CHRM3:

Animal Model Products

CRISPR Products

miRNA for CHRM3 Gene

miRTarBase miRNAs that target CHRM3

Clone Products

  • Addgene plasmids for CHRM3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CHRM3 Gene

Localization for CHRM3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHRM3 Gene

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHRM3 gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CHRM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IEA --
genes like me logo Genes that share ontologies with CHRM3: view

Pathways & Interactions for CHRM3 Gene

genes like me logo Genes that share pathways with CHRM3: view

SIGNOR curated interactions for CHRM3 Gene

Activates:

Gene Ontology (GO) - Biological Process for CHRM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003056 regulation of vascular smooth muscle contraction IBA 21873635
GO:0006464 cellular protein modification process TAS 10051746
GO:0006939 smooth muscle contraction IEA --
GO:0007165 signal transduction TAS 10940357
GO:0007186 G protein-coupled receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with CHRM3: view

Drugs & Compounds for CHRM3 Gene

(220) Drugs for CHRM3 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Atropine Approved, Vet_approved Pharma Antagonist, antagonist, Target MAChRs antagonist 197
Darifenacin Approved, Investigational Pharma Antagonist, Inverse agonist, antagonist, Target M3 receptor antagonist and antimuscarinic agents 26
Cevimeline Approved Pharma agonist, Target Muscarinic receptor agonist 5
Ipratropium Approved, Experimental Pharma Antagonist, antagonist, Target 154
Pilocarpine Approved, Investigational Pharma Partial agonist, Agonist, agonist, Target 37

(25) Additional Compounds for CHRM3 Gene - From: HMDB, IUPHAR, and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(-)aceclidine
Partial agonist, Agonist
(+)aceclidine
Full agonist, Agonist
Gouml 7874
Negative, Allosteric regulator, Neutral
HHSiD
Antagonist
N-Dealkylated tolterodine

(4) Tocris Compounds for CHRM3 Gene

Compound Action Cas Number
4-DAMP Muscarinic M3 antagonist 1952-15-4
DAU 5884 hydrochloride M3 receptor antagonist 131780-48-8
J 104129 fumarate Potent, selective M3 antagonist 257603-40-0
Zamifenacin fumarate Selective M3 antagonist 127308-98-9

(67) ApexBio Compounds for CHRM3 Gene

Compound Action Cas Number
(+)-Muscarine iodide 24570-49-8
(±)-Acetylcarnitine chloride cholinergic agonist 2504-11-2
(±)-Decanoylcarnitine chloride cholinergic agonist 14919-36-9
(±)-Hexanoylcarnitine chloride cholinergic agonist 6920-35-0
(±)-Lauroylcarnitine chloride 7023-03-2
(±)-Myristoylcarnitine chloride cholinergic agonist 14919-38-1
(±)-Octanoylcarnitine chloride 18822-86-1
(±)-Propionylcarnitine chloride 18828-58-5
(R)-(+)-Tolterodine 124937-51-5
(S)-(+)-Dimethindene maleate 136152-65-3
4-DAMP 1952-15-4
5-hydroxymethyl Tolterodine (PNU 200577, 5-HMT, 5-HM) 207679-81-0
5-Methylfurmethiodide 1197-60-0
Aclidinium Bromide LAMAs antagonist 320345-99-1
AF-DX 116 102394-31-0
AF-DX 384 118290-26-9
Arecaidine but-2-ynyl ester tosylate 119630-77-2
Arecaidine propargyl ester tosylate 147202-94-6
Arecoline Muscarinic acetylcholine receptors agonist 300-08-3
Arecoline hydrobromide Muscarinic receptor agonist 300-08-3
Atropine MAChRs antagonist 5908-99-6
Bethanechol chloride Muscarinic receptor agonist 590-63-6
Biperiden HCl Anticholinergic drug 1235-82-1
Cevimeline Muscarinic receptor agonist 107233-08-9
Cevimeline hydrochloride hemihydrate Agonist of muscarinic receptor (M1/M3) 153504-70-2
Darifenacin M3 receptor antagonist and antimuscarinic agents 133099-04-4
Darifenacin HBr 133099-07-7
DAU 5884 hydrochloride 131780-48-8
Dicyclomine HCl 67-92-5
Diphenidol HCl 3254-89-5
Diphenylpyraline HCl 132-18-3
Fesoterodine Fumarate 286930-03-8
Glycopyrrolate 596-51-0
Homatropine Bromide Muscarinic AChR antagonist 51-56-9
Homatropine Methylbromide Muscarinic AChR antagonist 80-49-9
J 104129 fumarate 257603-40-0
McN-A 343 55-45-8
Mepenzolate Bromide mAChR antagonist 76-90-4
Methscopolamine Muscarinic acetylcholine receptor blocker 155-41-9
Milameline hydrochloride 139886-04-7
Nitrocaramiphen hydrochloride 98636-73-8
Oxotremorine M 3854-04-4
Oxotremorine sesquifumarate 17360-35-9
PD 102807 23062-91-1
Pirenzepine dihydrochloride 29868-97-1
Pridinol Methanesulfonate 6856-31-1
PTAC oxalate 201939-40-4
Scopolamine butylbromide 149-64-4
Scopolamine hydrobromide 114-49-8
Solifenacin hydrochloride 180468-39-7
Solifenacin succinate Muscarinic receptor antagonist 242478-38-2
Tarafenacin M3 muscarinic receptor antagonist 385367-47-5
Tarafenacin D-tartrate 1159101-48-0
Telenzepine dihydrochloride 147416-96-4
Tiotropium Bromide MAChR M antagonist 136310-93-5
Tiotropium Bromide hydrate Muscarinic antagonist 139404-48-1
Tolterodine tartrate 124937-52-6
Tropicamide Antimuscarinic drug 1508-75-4
Trospium chloride Antimuscarinic agent 10405-02-4
Umeclidinium bromide MAChR antagonist 869113-09-7
VU 0238429 1160247-92-6
VU 0255035 1135243-19-4
VU 0357017 hydrochloride 1135242-13-5
VU 0365114 1208222-39-2
VU 10010 633283-39-3
W-84 dibromide 21093-51-6
Zamifenacin fumarate 127308-98-9
genes like me logo Genes that share compounds with CHRM3: view

Drug Products

Transcripts for CHRM3 Gene

mRNA/cDNA for CHRM3 Gene

10 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for CHRM3

Alternative Splicing Database (ASD) splice patterns (SP) for CHRM3 Gene

No ASD Table

Relevant External Links for CHRM3 Gene

GeneLoc Exon Structure for
CHRM3

Expression for CHRM3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CHRM3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CHRM3 Gene

This gene is overexpressed in Pancreas (x4.9), Esophagus - Muscularis (x4.7), and Bladder (x4.0).

Protein differential expression in normal tissues from HIPED for CHRM3 Gene

This gene is overexpressed in Heart (21.4), Retina (19.7), Pancreas (15.8), and Frontal cortex (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CHRM3 Gene



Protein tissue co-expression partners for CHRM3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHRM3

SOURCE GeneReport for Unigene cluster for CHRM3 Gene:

Hs.7138

Evidence on tissue expression from TISSUES for CHRM3 Gene

  • Nervous system(4.6)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHRM3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • salivary gland
  • skull
  • tongue
Thorax:
  • chest wall
  • heart
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
Pelvis:
  • anus
  • pelvis
  • placenta
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
Limb:
  • femur
  • foot
  • hip
  • lower limb
  • thigh
General:
  • blood
  • blood vessel
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with CHRM3: view

No data available for mRNA Expression by UniProt/SwissProt for CHRM3 Gene

Orthologs for CHRM3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRM3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHRM3 31 30
  • 99.6 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CHRM3 31 30
  • 90.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CHRM3 31 30
  • 88.34 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chrm3 30
  • 87.61 (n)
mouse
(Mus musculus)
Mammalia Chrm3 17 31 30
  • 87.04 (n)
oppossum
(Monodelphis domestica)
Mammalia CHRM3 31
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHRM3 31
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHRM3 31 30
  • 76.6 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHRM3 31
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493547 30
  • 65.04 (n)
zebrafish
(Danio rerio)
Actinopterygii chrm3a 31 30
  • 64.77 (n)
OneToMany
chrm3b 31
  • 61 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7918 32
  • 36 (a)
mAcR-60C 31 32
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gar-3 31
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
OneToMany
Species where no ortholog for CHRM3 was found in the sources mined by GeneCards:
  • 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 CHRM3 Gene

ENSEMBL:
Gene Tree for CHRM3 (if available)
TreeFam:
Gene Tree for CHRM3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CHRM3: view image

Paralogs for CHRM3 Gene

(7) SIMAP similar genes for CHRM3 Gene using alignment to 4 proteins:

  • ACM3_HUMAN
  • B1AN12_HUMAN
  • Q8NG01_HUMAN
  • Q96RG9_HUMAN
genes like me logo Genes that share paralogs with CHRM3: view

Variants for CHRM3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHRM3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs587776862 Pathogenic: Prune belly syndrome 239,908,624(+) GCCTGAGGAGGA/T FRAMESHIFT_VARIANT
rs16839102 - p.Leu431Pro
rs2067481 - p.Val65Ile

Additional dbSNP identifiers (rs#s) for CHRM3 Gene

Structural Variations from Database of Genomic Variants (DGV) for CHRM3 Gene

Variant ID Type Subtype PubMed ID
dgv81e214 CNV gain 21293372
esv1778820 CNV insertion 17803354
esv2376547 CNV deletion 18987734
esv2725851 CNV deletion 23290073
esv2725862 CNV deletion 23290073
esv2759009 CNV gain 17122850
esv3373255 CNV insertion 20981092
esv35011 CNV gain 17911159
esv3589279 CNV loss 21293372
esv3589280 CNV loss 21293372
esv3589282 CNV gain 21293372
esv3589283 CNV gain 21293372
esv3589284 CNV gain 21293372
esv3589285 CNV gain 21293372
esv3891259 CNV gain 25118596
esv5899 CNV gain 19470904
nsv1127068 CNV deletion 24896259
nsv5065 CNV insertion 18451855
nsv506986 OTHER sequence alteration 20534489
nsv508067 OTHER sequence alteration 20534489
nsv519393 CNV gain 19592680
nsv549435 CNV gain 21841781
nsv549438 CNV gain 21841781
nsv549439 CNV loss 21841781
nsv827531 CNV gain 20364138
nsv954002 CNV duplication 24416366

Variation tolerance for CHRM3 Gene

Residual Variation Intolerance Score: 49% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.14; 38.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHRM3 Gene

Human Gene Mutation Database (HGMD)
CHRM3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHRM3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHRM3 Gene

Disorders for CHRM3 Gene

MalaCards: The human disease database

(19) MalaCards diseases for CHRM3 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
prune belly syndrome
  • pbs
cholinergic urticaria
ureterolithiasis
  • calculus of ureter
lower urinary tract calculus
  • calculus of lower urinary tract
urethral calculus
  • urethral stone
- elite association - COSMIC cancer census association via MalaCards
Search CHRM3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACM3_HUMAN
  • Prune belly syndrome (PBS) [MIM:100100]: A syndrome characterized by thin abdominal musculature with overlying lax skin, cryptorchism, megacystis with disorganized detrusor muscle, and urinary tract abnormalities. {ECO:0000269 PubMed:22077972}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CHRM3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CHRM3: view

No data available for Genatlas for CHRM3 Gene

Publications for CHRM3 Gene

  1. Muscarinic M3 receptor stimulation increases cigarette smoke-induced IL-8 secretion by human airway smooth muscle cells. (PMID: 19460789) Gosens R … Zuyderduyn S (The European respiratory journal 2009) 3 23 26 54
  2. Sequence variation in the promoter region of the cholinergic receptor muscarinic 3 gene and asthma and atopy. (PMID: 12642833) Donfack J … Ober C (The Journal of allergy and clinical immunology 2003) 3 23 41 54
  3. The muscarinic M3 acetylcholine receptor exists as two differently sized complexes at the plasma membrane. (PMID: 23521066) Patowary S … Raicu V (The Biochemical journal 2013) 3 4 54
  4. Family-based analysis of genetic variation underlying psychosis-inducing effects of cannabis: sibling analysis and proband follow-up. (PMID: 21041608) van Winkel R … Genetic Risk and Outcome of Psychosis (GROUP) Investigators (Archives of general psychiatry 2011) 3 41 54
  5. Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. (PMID: 22077972) Weber S … Woolf AS (American journal of human genetics 2011) 3 4 54

Products for CHRM3 Gene

Sources for CHRM3 Gene