CHRM5 (cholinergic receptor muscarinic 5)

2016-10-01  

Identity

HGNC
CHRM5
LOCATION
15q14
LOCUSID
1133
ALIAS
HM5

Other Information

Locus ID:

NCBI: 1133
MIM: 118496
HGNC: 1954
Ensembl: ENSG00000184984

Variants:

dbSNP: 1133
ClinVar: 1133
TCGA: ENSG00000184984
COSMIC: CHRM5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184984ENST00000383263P08912
ENSG00000184984ENST00000383263A0A024R9I2
ENSG00000184984ENST00000557872P08912
ENSG00000184984ENST00000557872A0A024R9I2
ENSG00000184984ENST00000560035H0YKC0

Expression (GTEx)

0
1
2
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Calcium signaling pathwayKEGGko04020
Neuroactive ligand-receptor interactionKEGGko04080
Regulation of actin cytoskeletonKEGGko04810
Calcium signaling pathwayKEGGhsa04020
Neuroactive ligand-receptor interactionKEGGhsa04080
Regulation of actin cytoskeletonKEGGhsa04810
Cholinergic synapseKEGGhsa04725
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class A/1 (Rhodopsin-like receptors)REACTOMER-HSA-373076
Amine ligand-binding receptorsREACTOMER-HSA-375280
Muscarinic acetylcholine receptorsREACTOMER-HSA-390648
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (q) signalling eventsREACTOMER-HSA-416476
Gastrin-CREB signalling pathway via PKC and MAPKREACTOMER-HSA-881907

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
198745742009Genetical genomic determinants of alcohol consumption in rats and humans.93
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
191561682009Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.46
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
199447662010A pilot multivariate parallel ICA study to investigate differential linkage between neural networks and genetic profiles in schizophrenia.26
152926652004Linkage of M5 muscarinic and alpha7-nicotinic receptor genes on 15q13 to schizophrenia.21
190587892009A common variant in DRD3 receptor is associated with autism spectrum disorder.19
168772672006The presence of m1 to m5 receptors in human sclera: evidence of the sclera as a potential site of action for muscarinic receptor antagonists.17
176089382007Variation in the gene coding for the M5 muscarinic receptor (CHRM5) influences cigarette dose but is not associated with dependence to drugs of addiction: evidence from a prospective population based cohort study of young adults.15

Citation

Dessen P

CHRM5 (cholinergic receptor muscarinic 5)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56099/chrm5-(cholinergic-receptor-muscarinic-5)