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mutLBSgeneDB |
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| Gene summary for CHRM2 |
 Gene summary |
| Basic gene Info. | Gene symbol | CHRM2 |
| Gene name | cholinergic receptor, muscarinic 2 | |
| Synonyms | HM2 | |
| Cytomap | UCSC genome browser: 7q31-q35 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000739.2, NM_001006626.1,NM_001006627.1,NM_001006628.1,NM_001006629.1, NM_001006630.1,NM_001006631.1,NM_001006632.1,NM_001006633.1, | |
| Description | 7TM receptoracetylcholine receptor, muscarinic 2muscarinic M2 receptormuscarinic acetylcholine receptor M2 | |
| Modification date | 20141212 | |
| dbXrefs | MIM : 118493 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000181072 | ||
| HPRD : 00328 | ||
| Vega : OTTHUMG00000155658 | ||
| Protein | UniProt: P08172 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CHRM2 | |
| BioGPS: 1129 | ||
| Pathway | NCI Pathway Interaction Database: CHRM2 | |
| KEGG: CHRM2 | ||
| REACTOME: CHRM2 | ||
| Pathway Commons: CHRM2 | ||
| Context | iHOP: CHRM2 | |
| ligand binding site mutation search in PubMed: CHRM2 | ||
| UCL Cancer Institute: CHRM2 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0007213 | G-protein coupled acetylcholine receptor signaling pathway | 24256733 | GO:0051482 | positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway | 24256733 |
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| Ligand binding site mutations for CHRM2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | N419 | P418T | LUAD | 1 | N404 | M406I | LUAD | 1 | A194 | A194S | LUAD | 1 | W422 | V421L | LUAD | 1 | A414 | P415T | LUSC | 1 | N419 | P418T | LUSC | 1 | N419 | P418H | LUSC | 1 | W155 | P157S | SKCM | 1 | V111 | S110L | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for CHRM2 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | N419 | P418H | -1.2898498 | W422 | V421L | -1.1813244 | N419 | P418T | -1.1478164 | W155 | P157S | -1.0057021 | A414 | P415T | -0.9797684 | A194 | A194S | -0.7811414 | N404 | M406I | -0.58483395 | V111 | S110L | -0.4756638 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for CHRM2 from PDB |
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| Differential gene expression and gene-gene network for CHRM2 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for CHRM2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0005697 | Urinary Bladder, Neurogenic | 2 | Biomarker, Therapeutic |
| umls:C0428977 | Bradycardia | 1 | Biomarker |
| umls:C0270611 | Brain Injuries | 1 | Biomarker |
| umls:C0011853 | Diabetes Mellitus, Experimental | 1 | Biomarker |
| umls:C0011854 | Diabetes Mellitus, Type 1 | 1 | Biomarker |
| umls:C0011882 | Diabetic Neuropathies | 1 | Therapeutic |
| umls:C0014544 | Epilepsy | 1 | Biomarker |
| umls:C0236969 | Substance-Related Disorders | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CHRM2 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB00202 | Succinylcholine | Small molecule |  |
| Approved | DB00246 | Ziprasidone | Small molecule |  |
| Approved | DB00280 | Disopyramide | Small molecule |  |
| Approved | DB00321 | Amitriptyline | Small molecule |  |
| Approved | DB00332 | Ipratropium bromide | Small molecule |  |
| Approved|investigational | DB00334 | Olanzapine | Small molecule |  |
| Approved | DB00340 | Metixene | Small molecule |  |
| Withdrawn | DB00342 | Terfenadine | Small molecule |  |
| Approved | DB00363 | Clozapine | Small molecule |  |
| Approved | DB00376 | Trihexyphenidyl | Small molecule |  |
| Approved | DB00383 | Oxyphencyclimine | Small molecule |  |
| Approved | DB00387 | Procyclidine | Small molecule |  |
| Approved | DB00392 | Ethopropazine | Small molecule |  |
| Approved | DB00408 | Loxapine | Small molecule |  |
| Approved | DB00411 | Carbachol | Small molecule |  |
| Approved|vet_approved | DB00420 | Promazine | Small molecule |  |
| Approved | DB00424 | Hyoscyamine | Small molecule |  |
| Approved | DB00434 | Cyproheptadine | Small molecule |  |
| Approved | DB00458 | Imipramine | Small molecule |  |
| Approved | DB00462 | Methylscopolamine bromide | Small molecule |  |
| Approved | DB00483 | Gallamine Triethiodide | Small molecule |  |
| Approved|investigational | DB00496 | Darifenacin | Small molecule |  |
| Withdrawn | DB00505 | Tridihexethyl | Small molecule |  |
| Approved|vet_approved | DB00508 | Triflupromazine | Small molecule |  |
| Approved | DB00517 | Anisotropine Methylbromide | Small molecule |  |
| Approved | DB00540 | Nortriptyline | Small molecule |  |
| Approved|vet_approved | DB00572 | Atropine | Small molecule |  |
| Approved | DB00622 | Nicardipine | Small molecule |  |
| Approved|investigational | DB00715 | Paroxetine | Small molecule |  |
| Approved | DB00725 | Homatropine Methylbromide | Small molecule |  |
| Approved | DB00728 | Rocuronium | Small molecule |  |
| Approved | DB00747 | Scopolamine | Small molecule |  |
| Withdrawn | DB00767 | Benzquinamide | Small molecule |  |
| Approved | DB00777 | Propiomazine | Small molecule |  |
| Approved | DB00785 | Cryptenamine | Small molecule |  |
| Approved | DB00804 | Dicyclomine | Small molecule |  |
| Approved | DB00809 | Tropicamide | Small molecule |  |
| Approved | DB00835 | Brompheniramine | Small molecule |  |
| Approved|illicit | DB00907 | Cocaine | Small molecule |  |
| Approved | DB00934 | Maprotiline | Small molecule |  |
| Approved|investigational|vet_approved | DB00986 | Glycopyrronium | Small molecule |  |
| Approved | DB01019 | Bethanechol | Small molecule |  |
| Approved|investigational | DB01036 | Tolterodine | Small molecule |  |
| Approved|investigational | DB01062 | Oxybutynin | Small molecule |  |
| Approved | DB01069 | Promethazine | Small molecule |  |
| Approved | DB01075 | Diphenhydramine | Small molecule |  |
| Approved | DB01085 | Pilocarpine | Small molecule |  |
| Approved | DB01135 | Doxacurium chloride | Small molecule |  |
| Approved | DB01142 | Doxepin | Small molecule |  |
| Approved | DB01148 | Flavoxate | Small molecule |  |
| Approved | DB01151 | Desipramine | Small molecule |  |
| Approved | DB01224 | Quetiapine | Small molecule |  |
| Approved | DB01226 | Mivacurium | Small molecule |  |
| Approved|withdrawn | DB01231 | Diphenidol | Small molecule |  |
| Approved|investigational | DB01238 | Aripiprazole | Small molecule |  |
| Approved|withdrawn | DB01239 | Chlorprothixene | Small molecule |  |
| Approved | DB01336 | Metocurine | Small molecule |  |
| Approved | DB01337 | Pancuronium | Small molecule |  |
| Approved | DB01338 | Pipecuronium | Small molecule |  |
| Approved | DB01403 | Methotrimeprazine | Small molecule |  |
| Approved | DB01409 | Tiotropium | Small molecule |  |
| Approved | DB01591 | Solifenacin | Small molecule |  |
| Investigational | DB05752 | ALKS 27 | Small molecule |  |
| Approved | DB06702 | Fesoterodine | Small molecule |  |
| Approved | DB08801 | Dimetindene | Small molecule |  |
| Approved | DB08897 | Aclidinium | Small molecule |  |
| Approved | DB09076 | Umeclidinium | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CHRM2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 2CU | 3-AMINO-5-CHLORO-N-CYCLOPROPYL-4-METHYL-6-[2-(4- METHYLPIPERAZIN-1-YL)-2-OXOETHOXY]THIENO[2,3- B]PYRIDINE-2-CARBOXAMIDE | 4mqt | A | A414 N419 W422 | IXO | IPEROXO | 4-(4,5-DIHYDRO-1,2-OXAZOL-3-YLOXY)-N,N,N-TRIMETHYLBUT- 2-YN-1-AMINIUM | 4mqs | A | V111 W155 A194 N404 | IXO | IPEROXO | 4-(4,5-DIHYDRO-1,2-OXAZOL-3-YLOXY)-N,N,N-TRIMETHYLBUT- 2-YN-1-AMINIUM | 4mqt | A | V111 W155 A194 N404 |
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| Conservation information for LBS of CHRM2 |
| Multiple alignments for P08172 in multiple species |
| LBS | AA sequence | # species | Species | A194 | GTAIAAFYLPV | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | A414 | INTFCAPCIPN | 3 | Homo sapiens, Mus musculus, Bos taurus | A414 | INSFCASCIPG | 1 | Gallus gallus | C429 | IGYWLCYINST | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | D103 | LWLALDYVVSN | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | F181 | CYIQFFSNAAV | 3 | Homo sapiens, Mus musculus, Bos taurus | F181 | CYIQFFSNPAV | 1 | Gallus gallus | F195 | TAIAAFYLPVI | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | N404 | TWAPYNVMVLI | 3 | Homo sapiens, Mus musculus, Bos taurus | N404 | TWTPYNVMVLI | 1 | Gallus gallus | N410 | VMVLINTFCAP | 3 | Homo sapiens, Mus musculus, Bos taurus | N410 | VMVLINSFCAS | 1 | Gallus gallus | N419 | APCIPNTVWTI | 3 | Homo sapiens, Mus musculus, Bos taurus | N419 | ASCIPGTVWTI | 1 | Gallus gallus | S107 | LDYVVSNASVM | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | T423 | PNTVWTIGYWL | 3 | Homo sapiens, Mus musculus, Bos taurus | T423 | PGTVWTIGYWL | 1 | Gallus gallus | V111 | VSNASVMNLLI | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | W155 | LSFILWAPAIL | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | W400 | AFIITWAPYNV | 3 | Homo sapiens, Mus musculus, Bos taurus | W400 | AFIITWTPYNV | 1 | Gallus gallus | W422 | IPNTVWTIGYW | 3 | Homo sapiens, Mus musculus, Bos taurus | W422 | IPGTVWTIGYW | 1 | Gallus gallus | Y104 | WLALDYVVSNA | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | Y177 | EDGECYIQFFS | 3 | Homo sapiens, Mus musculus, Bos taurus | Y177 | PDKDCYIQFFS | 1 | Gallus gallus | Y403 | ITWAPYNVMVL | 3 | Homo sapiens, Mus musculus, Bos taurus | Y403 | ITWTPYNVMVL | 1 | Gallus gallus | Y426 | VWTIGYWLCYI | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | Y430 | GYWLCYINSTI | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | Y80 | FSMNLYTLYTV | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | Y83 | NLYTLYTVIGY | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus |
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