CHRM5 (cholinergic receptor muscarinic 5)

2016-10-01  

Identity

HGNC
LOCATION
15q14
LOCUSID
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

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

References

Pubmed IDYearTitleCitations
253751312014Cigarette smoking promotes inflammation in patients with COPD by affecting the polarization and survival of Th/Tregs through up-regulation of muscarinic receptor 3 and 5 expression.19
253751312014Cigarette smoking promotes inflammation in patients with COPD by affecting the polarization and survival of Th/Tregs through up-regulation of muscarinic receptor 3 and 5 expression.19
199447662010A pilot multivariate parallel ICA study to investigate differential linkage between neural networks and genetic profiles in schizophrenia.28
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
199447662010A pilot multivariate parallel ICA study to investigate differential linkage between neural networks and genetic profiles in schizophrenia.28
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
190587892009A common variant in DRD3 receptor is associated with autism spectrum disorder.31
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.39
191561682009Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.49
198745742009Genetical genomic determinants of alcohol consumption in rats and humans.107
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
190587892009A common variant in DRD3 receptor is associated with autism spectrum disorder.31
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.39

Citation

Dessen P

CHRM5 (cholinergic receptor muscarinic 5)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56099/js/lib/css/gene-fusions-explorer/