CHRM4 (cholinergic receptor muscarinic 4)

Gene

• Entrez ID: 1132
• Gene name: Cholinergic receptor muscarinic 4
• Gene symbol: CHRM4
• Synonyms (NCBI Gene): HM4, M4R
• Chromosome: 11
• Chromosome location: 11p11.2
• 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 and includes cellular responses such as adenylate cyclase inhibition, pho

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	3037705, 3443095
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	9603968
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	2739737
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	IBA
GO:0007197	Process	Adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway	IBA
GO:0007197	Process	Adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway	IEA
GO:0007213	Process	G protein-coupled acetylcholine receptor signaling pathway	IEA
GO:0007213	Process	G protein-coupled acetylcholine receptor signaling pathway	TAS	3443095
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0016020	Component	Membrane	IEA
GO:0016907	Function	G protein-coupled acetylcholine receptor activity	IBA
GO:0016907	Function	G protein-coupled acetylcholine receptor activity	IEA
GO:0016907	Function	G protein-coupled acetylcholine receptor activity	TAS	9603968
GO:0030425	Component	Dendrite	IBA
GO:0040012	Process	Regulation of locomotion	IEA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA

Other IDs

• MIM: 118495
• HGNC: 1953
• e!Ensembl: ENSG00000180720

Protein

• UniProt ID: P08173
• Protein name: Muscarinic acetylcholine receptor M4
• Protein 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 effec
• PDB: 5DSG, 6D9H, 6KP6, 7LD3, 7LD4, 7TRK, 7TRP, 7TRQ, 7TRS, 7V68, 7V69, 7V6A, 8E9X, 8FX5, 8IYH, 8IYW, 8JER, 8JHN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	49 → 453	7 transmembrane receptor (rhodopsin family)	Family

• Sequence:

  MANFTPVNGSSGNQSVRLVTSSSHNRYETVEMVFIATVTGSLSLVTVVGNILVMLSIKVN
  RQLQTVNNYFLFSLACADLIIGAFSMNLYTVYIIKGYWPLGAVVCDLWLALDYVVSNASV
  MNLLIISFDRYFCVTKPLTYPARRTTKMAGLMIAAAWVLSFVLWAPAILFWQFVVGKRTV
  PDNQCFIQFLSNPAVTFGTAIAAFYLPVVIMTVLYIHISLASRSRVHKHRPEGPKEKKAK
  TLAFLKSPLMKQSVKKPPPGEAAREELRNGKLEEAPPPALPPPPRPVADKDTSNESSSGS
  ATQNTKERPATELSTTEATTPAMPAPPLQPRALNPASRWSKIQIVTKQTGNECVTAIEIV
  PATPAGMRPAANVARKFASIARNQVRKKRQMAARERKVTRTIFAILLAFILTWTPYNVMV
  LVNTFCQSCIPDTVWSIGYWLCYVNSTINPACYALCNATFKKTFRHLLLCQYRNIGTAR

• Sequence length: 479

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Cholinergic synapse
Regulation of actin cytoskeleton

Reactome:

Muscarinic acetylcholine receptors
G alpha (i) signalling events

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CATATONIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREMOR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cardiovascular Diseases	Cardiovascular disease	Pubtator	30466987	Associate	★☆☆☆☆ Found in Text Mining only
Catatonia	Catatonia	CTD_human_DG	15273762		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Catatonia, Malignant	Malignant Catatonia	CTD_human_DG	15273762		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	30466987	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	30466987	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	30466987	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30466987	Associate	★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	23490763		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	30466987	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	31554738		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37142586	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	12476323, 21747397, 23490763, 27269905, 27837920, 31340894		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	12476323		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	21747397, 23490763		★★☆☆☆ Found in Text Mining + Unknown/Other Associations