CHRM4 cholinergic receptor muscarinic 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHRM4provided by HGNC
Official Full Name: cholinergic receptor muscarinic 4provided by HGNC
Primary source: HGNC:HGNC:1953
See related: Ensembl:ENSG00000180720 MIM:118495; AllianceGenome:HGNC:1953
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HM4; M4R
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, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The clinical implications of this receptor are unknown; however, mouse studies link its function to adenylyl cyclase inhibition. [provided by RefSeq, Jul 2008]
Orthologs: mouse all
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Genomic context

Location:: 11p11.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (46383789..46391776, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (46539864..46547851, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (46405339..46413326, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Muscarinic Receptors Expression in the Peripheral Blood Cells Differentiate Dementia with Lewy Bodies from Alzheimer's Disease.
Title: Muscarinic Receptors Expression in the Peripheral Blood Cells Differentiate Dementia with Lewy Bodies from Alzheimer's Disease.
Group II muscarinic acetylcholine receptors attenuate hepatic injury via Nrf2/ARE pathway.
Title: Group II muscarinic acetylcholine receptors attenuate hepatic injury via Nrf2/ARE pathway.
Authors discuss how M4 activity regulates DA release and signaling, the potential sources of ACh that can regulate M4 activity, and the implications of targeting M4 activity for the treatment of the motor symptoms in movement disorders. [Review]
Title: Roles of the M(4) acetylcholine receptor in the basal ganglia and the treatment of movement disorders.
the association of the African-specific CHRM4 SNP with cocaine dependence survived correction for multiple testing
Title: African-specific variability in the acetylcholine muscarinic receptor M4: association with cocaine and heroin addiction.
crystal structures of the M1 and M4 muscarinic receptors bound to the inverse agonist, tiotropium
Title: Crystal structures of the M1 and M4 muscarinic acetylcholine receptors.
This study demonstrated that CD4+ and CD8+ T cells expressed M2 and M4 muscarinic receptors which density were significantly increased in asthmatic children in comparison with controls.
Title: Modified expression of peripheral blood lymphocyte muscarinic cholinergic receptors in asthmatic children.
This study identify suppression of the PVHSIM1-->PAGvl/DR circuit connection as sufficient to induce overeating behavior.
Title: Chemogenetic synaptic silencing of neural circuits localizes a hypothalamus→midbrain pathway for feeding behavior.
[(3)H]LY2119620 to probe specifically the human M2 and M4 muscarinic receptor allosteric binding sites.
Title: Development of a radioligand, [(3)H]LY2119620, to probe the human M(2) and M(4) muscarinic receptor allosteric binding sites.
Data indicate that compounds derived from VU0152100 showed M4 muscarinic receptor (M4 mAChR) direct agoinst properties.
Title: Probing structural requirements of positive allosteric modulators of the M4 muscarinic receptor.
The data of this study suggested that the rs2067482 polymorphism may help to predict susceptibility to schizophrenia and/or therapeutic responsiveness.
Title: Cholinergic muscarinic M4 receptor gene polymorphisms: a potential risk factor and pharmacogenomic marker for schizophrenia.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-M16405 (e-PCR)
- UniSTS:8706

GDB:197831 (e-PCR)
- UniSTS:155954

UniSTS:481077 (e-PCR)
- UniSTS:481077

RH78928 (e-PCR)
- UniSTS:70478

RH27302 (e-PCR)
- UniSTS:88424

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled acetylcholine receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables G protein-coupled serotonin receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in G protein-coupled acetylcholine receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	IBA Inferred from Biological aspect of Ancestor more info
involved_in G protein-coupled serotonin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of locomotion	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: muscarinic acetylcholine receptor M4

Names: acetylcholine receptor, muscarinic 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_000741.5 → NP_000732.2 muscarinic acetylcholine receptor M4

See identical proteins and their annotated locations for NP_000732.2

Status: REVIEWED

Source sequence(s)

AC116021

Consensus CDS

CCDS44581.1

UniProtKB/Swiss-Prot

B2RPP4, P08173, Q0VD60, Q4VBK7

UniProtKB/TrEMBL

Q96RG8

Related

ENSP00000507561.1, ENST00000682254.1

Conserved Domains (1) summary

cd15298
Location:33 → 464

7tmA_mAChR_M4; muscarinic acetylcholine receptor subtype M4, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_001366692.2 → NP_001353621.1 muscarinic acetylcholine receptor M4

Status: REVIEWED

Source sequence(s)

AC116021

Consensus CDS

CCDS44581.1

UniProtKB/Swiss-Prot

B2RPP4, P08173, Q0VD60, Q4VBK7

UniProtKB/TrEMBL

Q96RG8

Related

ENSP00000409378.2, ENST00000433765.3

Conserved Domains (1) summary

cd15298
Location:33 → 464

7tmA_mAChR_M4; muscarinic acetylcholine receptor subtype M4, member of the class A family of seven-transmembrane G protein-coupled receptors