• Gene id: 1132

Gene Summary

• Gene Symbol: CHRM4   Gene   UCSC   Ensembl
• Aliases: HM4, M4R
• Gene name: cholinergic receptor muscarinic 4
• Alternate names: muscarinic acetylcholine receptor M4, acetylcholine receptor, muscarinic 4,
• Gene location: 11p11.2 (46391775: 46383788)     Exons: 2     NC_000011.10
• Gene summary(Entrez): 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

SNPs

rs3212293

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000024.10   g.13479612C>G
NC_000024.10   g.13479612C>T
NC_000024.9   g.15591492C>G
NC_000024.9   g.15591492C>T
NM_007125.4   c.54G>C
NM_007125.4   c.54G>A
XM_006724875.4   c.54G>C
XM_006724875.4   c.54G>A
XM_005262518.4   c.54G>C
XM_005262518.4   c.54G>A
XM_005262518  

Protein Summary

• Protein general information: P08173  
  • Name: Muscarinic acetylcholine receptor M4
  • Length: 479  
  • Mass: 53049
• Sequence:

  MANFTPVNGSSGNQSVRLVTSSSHNRYETVEMVFIATVTGSLSLVTVVGNILVMLSIKVNRQLQTVNNYFLFSLA
  CADLIIGAFSMNLYTVYIIKGYWPLGAVVCDLWLALDYVVSNASVMNLLIISFDRYFCVTKPLTYPARRTTKMAG
  LMIAAAWVLSFVLWAPAILFWQFVVGKRTVPDNQCFIQFLSNPAVTFGTAIAAFYLPVVIMTVLYIHISLASRSR
  VHKHRPEGPKEKKAKTLAFLKSPLMKQSVKKPPPGEAAREELRNGKLEEAPPPALPPPPRPVADKDTSNESSSGS
  ATQNTKERPATELSTTEATTPAMPAPPLQPRALNPASRWSKIQIVTKQTGNECVTAIEIVPATPAGMRPAANVAR
  KFASIARNQVRKKRQMAARERKVTRTIFAILLAFILTWTPYNVMVLVNTFCQSCIPDTVWSIGYWLCYVNSTINP
  ACYALCNATFKKTFRHLLLCQYRNIGTAR

• Structural information:
  • Interpro: IPR000276  IPR017452  IPR001432  IPR000995  
  • Prosite: PS00237 PS50262
  • PDB: 5DSG 6D9H
  • PDBsum: 5DSG 6D9H
  • DIP: 61455
  • STRING: ENSP00000409378
• Other Databases: GeneCards:  CHRM4  Malacards:  CHRM4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030425	dendrite	IBA	cellular component
GO:0016907	G protein-coupled acetylcholine receptor activity	IBA	molecular function
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0007187	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	IBA	biological process
GO:0004993	G protein-coupled serotonin receptor activity	IBA	molecular function
GO:0045202	synapse	IBA	cellular component
GO:0030594	neurotransmitter receptor activity	IBA	molecular function
GO:0007197	adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0004930	G protein-coupled receptor activity	IBA	molecular function
GO:0016907	G protein-coupled acetylcholine receptor activity	IEA	molecular function
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0040012	regulation of locomotion	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016907	G protein-coupled acetylcholine receptor activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
GO:0007213	G protein-coupled acetylcholine receptor signaling pathway	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0007197	adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway	IEA	biological process
GO:0016907	G protein-coupled acetylcholine receptor activity	IEA	molecular function
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0098664	G protein-coupled serotonin receptor signaling pathway	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04810	Regulation of actin cytoskeleton
hsa04725	Cholinergic synapse

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq