CHRNG
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Summary
CHRNG (cholinergic receptor nicotinic gamma subunit, HGNC:1967) is a protein-coding gene on chromosome 2q37.1, encoding Acetylcholine receptor subunit gamma (P07510). After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.
Source: NCBI Gene 1146 — RefSeq curated summary.
At a glance
- Gene–disease (curated): CHRNG-associated hypo-akinesia disorder of prenatal onset (Definitive, ClinGen) — +3 more curated relationships
- GWAS associations: 2
- Clinical variants (ClinVar): 542 total — 36 pathogenic, 33 likely-pathogenic (top 6% of genes corpus-wide)
- GTEx eGene: eQTL in 2 tissues, sQTL in 1 (q < 0.05)
- Phenotypes (HPO): 122
- Drug target: yes — 14 via a complex or family; 10 molecules with ChEMBL bioactivity (top 3% of genes corpus-wide)
- Approved drugs acting on a complex or family including it: 14 — Atracurium Besylate, Cisatracurium Besylate, Decamethonium Bromide, +11 more (Muscle-type nicotinic acetylcholine receptor)
- Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.29 (unconstrained)
- MANE Select transcript:
NM_005199
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1967 |
| Approved symbol | CHRNG |
| Name | cholinergic receptor nicotinic gamma subunit |
| Location | 2q37.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000196811 |
| Ensembl biotype | protein_coding |
| OMIM | 100730 |
| Entrez | 1146 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron
MANE Select: ENST00000651502
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2
ENST00000651502, ENST00000389492, ENST00000485094
RefSeq mRNA: 1 — MANE Select: NM_005199
NM_005199
CCDS: CCDS33400
Canonical transcript exons
ENST00000651502 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000922599 | 232541374 | 232541529 |
| ENSE00000922600 | 232542423 | 232542520 |
| ENSE00000922601 | 232542882 | 232543082 |
| ENSE00000922602 | 232543275 | 232543389 |
| ENSE00000922604 | 232544367 | 232544580 |
| ENSE00000922605 | 232544772 | 232544902 |
| ENSE00001506031 | 232543585 | 232543699 |
| ENSE00003487420 | 232540602 | 232540711 |
| ENSE00003524326 | 232539992 | 232540131 |
| ENSE00003650506 | 232540381 | 232540425 |
| ENSE00003843733 | 232539692 | 232539802 |
| ENSE00003845666 | 232545543 | 232548115 |
Expression profiles
Bgee: expression breadth broad, 54 present calls, max score 86.22.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.0970 / max 178.8929, expressed in 109 samples.
Highest expression (Bgee): pancreatic ductal cell, gastrocnemius, muscle of leg, hindlimb stylopod muscle, muscle organ.
Genetic regulation across tissues (GTEx eQTL / sQTL)
CHRNG is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 2 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
3 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Muscle Skeletal | eqtl | 4.1e-55 | +0.54 | 2:232537797:C:T |
| Muscle Skeletal | sqtl | 4.1e-18 | +0.61 | 2:232537797:C:T |
| Minor Salivary Gland | eqtl | 2.1e-02 | -0.31 | 2:232504907:C:A |
FANTOM5 promoters
3 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 25992 | 0.5045 | 67 |
| 25994 | 0.4026 | 86 |
| 25993 | 0.1899 | 58 |
Top tissues by expression
showing 100 of 200 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 86.22 | silver quality |
| gastrocnemius | UBERON:0001388 | 84.84 | gold quality |
| muscle of leg | UBERON:0001383 | 83.14 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 78.28 | gold quality |
| muscle organ | UBERON:0001630 | 77.57 | gold quality |
| endothelial cell | CL:0000115 | 73.66 | silver quality |
| epithelial cell of pancreas | CL:0000083 | 72.58 | gold quality |
| cervix epithelium | UBERON:0004801 | 72.57 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 72.32 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 72.20 | silver quality |
| body of tongue | UBERON:0011876 | 71.87 | gold quality |
| cerebellar vermis | UBERON:0004720 | 70.62 | silver quality |
| cardia of stomach | UBERON:0001162 | 70.43 | gold quality |
| gluteal muscle | UBERON:0002000 | 70.41 | silver quality |
| synovial joint | UBERON:0002217 | 70.39 | silver quality |
| vena cava | UBERON:0004087 | 70.35 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 69.94 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 69.88 | gold quality |
| pericardium | UBERON:0002407 | 69.80 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 69.71 | gold quality |
| ventral tegmental area | UBERON:0002691 | 69.65 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 69.60 | gold quality |
| pons | UBERON:0000988 | 69.52 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 69.49 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 69.17 | gold quality |
| penis | UBERON:0000989 | 68.87 | silver quality |
| triceps brachii | UBERON:0001509 | 68.33 | gold quality |
| periodontal ligament | UBERON:0008266 | 68.07 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 68.04 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 66.87 | gold quality |
| oviduct epithelium | UBERON:0004804 | 66.82 | gold quality |
| thymus | UBERON:0002370 | 66.36 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 65.57 | gold quality |
| deltoid | UBERON:0001476 | 65.44 | silver quality |
| olfactory bulb | UBERON:0002264 | 65.44 | gold quality |
| type B pancreatic cell | CL:0000169 | 64.45 | gold quality |
| globus pallidus | UBERON:0001875 | 64.33 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 63.75 | gold quality |
| medial globus pallidus | UBERON:0002477 | 62.94 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 62.63 | gold quality |
| muscle tissue | UBERON:0002385 | 62.55 | gold quality |
| squamous epithelium | UBERON:0006914 | 62.47 | gold quality |
| parotid gland | UBERON:0001831 | 62.37 | gold quality |
| bone marrow cell | CL:0002092 | 61.90 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 61.64 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 61.47 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 61.08 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 60.67 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 60.50 | gold quality |
| quadriceps femoris | UBERON:0001377 | 60.43 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 60.21 | gold quality |
| decidua | UBERON:0002450 | 59.79 | gold quality |
| vastus lateralis | UBERON:0001379 | 59.58 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 59.24 | gold quality |
| oocyte | CL:0000023 | 58.83 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 58.69 | gold quality |
| myocardium | UBERON:0002349 | 58.67 | gold quality |
| diaphragm | UBERON:0001103 | 58.60 | gold quality |
| cartilage tissue | UBERON:0002418 | 58.12 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 57.95 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 57.86 | gold quality |
| oral cavity | UBERON:0000167 | 57.81 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 57.78 | gold quality |
| male germ cell | CL:0000015 | 57.76 | gold quality |
| mammalian vulva | UBERON:0000997 | 57.59 | gold quality |
| ileal mucosa | UBERON:0000331 | 57.43 | silver quality |
| hair follicle | UBERON:0002073 | 57.42 | gold quality |
| secondary oocyte | CL:0000655 | 57.22 | gold quality |
| mammary duct | UBERON:0001765 | 57.18 | gold quality |
| renal glomerulus | UBERON:0000074 | 57.15 | gold quality |
| skin of hip | UBERON:0001554 | 57.04 | silver quality |
| sperm | CL:0000019 | 56.75 | gold quality |
| gingival epithelium | UBERON:0001949 | 56.48 | gold quality |
| nephron tubule | UBERON:0001231 | 55.97 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 55.96 | gold quality |
| sural nerve | UBERON:0015488 | 55.46 | silver quality |
| tibia | UBERON:0000979 | 55.25 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 55.15 | gold quality |
| kidney epithelium | UBERON:0004819 | 55.06 | gold quality |
| seminal vesicle | UBERON:0000998 | 54.92 | silver quality |
| pleura | UBERON:0000977 | 54.73 | gold quality |
| colonic mucosa | UBERON:0000317 | 54.39 | gold quality |
| upper leg skin | UBERON:0004262 | 54.29 | silver quality |
| buccal mucosa cell | CL:0002336 | 54.14 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 54.05 | gold quality |
| parietal pleura | UBERON:0002400 | 53.92 | gold quality |
| jejunum | UBERON:0002115 | 53.81 | gold quality |
| visceral pleura | UBERON:0002401 | 53.55 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 53.08 | gold quality |
| cranial nerve II | UBERON:0000941 | 52.44 | silver quality |
| blood | UBERON:0000178 | 52.42 | gold quality |
| placenta | UBERON:0001987 | 52.06 | gold quality |
| postcentral gyrus | UBERON:0002581 | 51.67 | gold quality |
| inferior olivary complex | UBERON:0002127 | 51.66 | gold quality |
| bronchus | UBERON:0002185 | 51.55 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 51.35 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 50.89 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 50.48 | gold quality |
| biceps brachii | UBERON:0001507 | 50.31 | gold quality |
| adrenal tissue | UBERON:0018303 | 49.61 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-5061 | yes | 243.54 |
| E-ANND-3 | yes | 3.22 |
HPA expression
RNA tissue specificity: Tissue enriched
40 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM |
|---|---|---|
| Skeletal muscle | tissue | 19.6 |
| Tongue | tissue | 1.3 |
| Nucleus accumbens | tissue | 0.9 |
| Hippocampus | tissue | 0.9 |
| Locus coeruleus | tissue | 0.7 |
| Basal ganglia | tissue | 0.6 |
| Choroid plexus | tissue | 0.6 |
| Postcentral gyrus | tissue | 0.6 |
| Olfactory bulb | tissue | 0.6 |
| Cerebral cortex | tissue | 0.5 |
| Putamen | tissue | 0.5 |
| Amygdala | tissue | 0.5 |
| Hypothalamus | tissue | 0.5 |
| Hippocampal formation | tissue | 0.5 |
| Entorhinal cortex | tissue | 0.5 |
| Periaqueductal gray | tissue | 0.5 |
| Septum | tissue | 0.5 |
| Insular cortex | tissue | 0.5 |
| Prefrontal cortex | tissue | 0.4 |
| Pons | tissue | 0.4 |
| Cerebellum | tissue | 0.4 |
| Substantia nigra | tissue | 0.4 |
| Thymus | tissue | 0.4 |
| Ventral forebrain | tissue | 0.4 |
| Temporal cortex | tissue | 0.4 |
| Epididymis | tissue | 0.3 |
| Motor cortex | tissue | 0.3 |
| Midbrain | tissue | 0.3 |
| Medulla oblongata | tissue | 0.3 |
| Thalamus | tissue | 0.3 |
| Superior colliculi | tissue | 0.3 |
| Spinal cord | tissue | 0.3 |
| Corpus callosum | tissue | 0.3 |
| Prostate | tissue | 0.3 |
| Retrosplenial and cingulate cortex | tissue | 0.3 |
| Somatosensory cortex | tissue | 0.3 |
| Retrosplenial cortex | tissue | 0.3 |
| Occipital cortex | tissue | 0.3 |
| Breast | tissue | 0.1 |
| Seminal vesicle | tissue | 0.1 |
Brain sub-regions (HPA Brain Atlas): detected in 188; highest nTPM — Nucleus ambiguus (1.1), Orbitofrontal gyrus, anterior (1.1), Corticomedial amygdala (1.0), Piriform cortex (1.0), Arcuate nucleus (0.9).
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYOD1, MYOG, TCF3
miRNA regulators (miRDB)
Targeting CHRNG by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
showing 30 of 37 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-1251-3P | 99.64 | 67.21 | 1408 |
| HSA-MIR-6861-3P | 99.60 | 68.46 | 444 |
| HSA-MIR-6716-5P | 99.56 | 68.62 | 1244 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-4284 | 99.36 | 65.25 | 1293 |
| HSA-MIR-5589-3P | 99.29 | 68.30 | 1443 |
| HSA-MIR-5693 | 99.24 | 66.67 | 1106 |
| HSA-MIR-4758-3P | 99.12 | 63.96 | 869 |
| HSA-MIR-4270 | 99.02 | 66.26 | 1987 |
| HSA-MIR-4774-3P | 98.90 | 67.82 | 737 |
| HSA-MIR-583 | 98.71 | 67.44 | 1791 |
| HSA-MIR-6754-5P | 98.60 | 65.54 | 1627 |
| HSA-MIR-7114-3P | 98.42 | 66.53 | 569 |
| HSA-MIR-1262 | 98.17 | 66.52 | 757 |
| HSA-MIR-1180-5P | 98.16 | 65.32 | 460 |
| HSA-MIR-4494 | 97.86 | 64.93 | 850 |
| HSA-MIR-3664-3P | 97.85 | 67.62 | 1452 |
| HSA-MIR-4432 | 97.80 | 67.87 | 705 |
| HSA-MIR-4741 | 97.69 | 64.14 | 883 |
| HSA-MIR-4675 | 97.69 | 64.82 | 774 |
| HSA-MIR-510-5P | 97.66 | 65.82 | 916 |
| HSA-MIR-4678 | 97.59 | 68.31 | 902 |
| HSA-MIR-3189-5P | 97.55 | 66.71 | 655 |
| HSA-MIR-5699-5P | 97.36 | 67.03 | 1014 |
Functional genomics
gnomAD constraint: pLI 4.42e-25, LOEUF 1.29, missense Z 0.991 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD RMC): no regional variation along ENST00000651502 — one region, missense o/e 0.94.
Literature-anchored findings (GeneRIF, showing 13)
- A good correlation was found between the expression of PAX3/7-FKHR and AChR, while MyoD1 was more sensitive but less specific. (PMID:16435141)
- CHRNG mutations identified in families with Escobar syndrome show that the trait is a congenital dysmorphology caused by transient inactivation of the neuromuscular endplate. (PMID:16826520)
- Mutations cxause lethal and nonlethal forms of multiple pterygium syndrome. (PMID:16826531)
- constructed and characterized four AChR gamma extracellular domain variants (PMID:18502212)
- This study suggests for the first time in humans, a possible role for genetic variation in the neuromuscular nicotinic acetylcholine receptor, particularly the gamma subunit, in systolic blood pressure regulation (PMID:18625075)
- Detection of PAX3/7-FKHR fusion gene by one-step RT-PCR is useful in the diagnosis of rhabdomyosarcomas (RMS) and that AChR-gamma is overexpressed in Chinese RMS patients. (PMID:18988640)
- We did not identify a clear difference in mutation spectrum of the CHRNG gene between lethal form and non-lethal forms of multiple pterygium syndromes (PMID:22167768)
- No mutations were found in CHRNG, CHRND and CHRNA1 genes of Indian families with Escobar syndrome. (PMID:23448903)
- Two siblings with Escobar syndrome caused by homozygous mutations of the CHRNG gene were identified. (PMID:25411939)
- Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations. (PMID:25608830)
- CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome (PMID:27245440)
- A homozygous nonsense CHRNG variant c.136C>T (p.R46*), predicted to produce a truncated protein that leads to acetylcholine receptor deficiency was detected in a consanguineous Pakistani family with Escobar syndrome. (PMID:30461311)
- Our study contributes to further define the phenotypic spectrum of CHRNG-related nonlethal MPS, including muscle imaging features, which may be useful in distinguishing it from other diffuse arthrogryposis entities. (PMID:30868735)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | chrng | ENSDARG00000086647 |
| mus_musculus | Chrng | ENSMUSG00000026253 |
| rattus_norvegicus | Chrng | ENSRNOG00000077483 |
Paralogs (45): GABRA3 (ENSG00000011677), GABRA1 (ENSG00000022355), CHRNA3 (ENSG00000080644), GABRP (ENSG00000094755), CHRNA4 (ENSG00000101204), GLRA2 (ENSG00000101958), GABRE (ENSG00000102287), CHRNE (ENSG00000108556), GABRA4 (ENSG00000109158), GLRB (ENSG00000109738), GABRR2 (ENSG00000111886), GABRG2 (ENSG00000113327), CHRNB4 (ENSG00000117971), CHRNA2 (ENSG00000120903), CHRNA10 (ENSG00000129749), CHRND (ENSG00000135902), CHRNA1 (ENSG00000138435), GLRA3 (ENSG00000145451), GABRA6 (ENSG00000145863), GABRB2 (ENSG00000145864), GLRA1 (ENSG00000145888), GABRR1 (ENSG00000146276), CHRNB3 (ENSG00000147432), CHRNA6 (ENSG00000147434), HTR3B (ENSG00000149305), GABRA2 (ENSG00000151834), CHRNB2 (ENSG00000160716), GABRG1 (ENSG00000163285), GABRB1 (ENSG00000163288), GABRB3 (ENSG00000166206), CHRFAM7A (ENSG00000166664), HTR3A (ENSG00000166736), CHRNA5 (ENSG00000169684), CHRNB1 (ENSG00000170175), CHRNA9 (ENSG00000174343), CHRNA7 (ENSG00000175344), HTR3C (ENSG00000178084), GABRG3 (ENSG00000182256), GABRR3 (ENSG00000183185), HTR3E (ENSG00000186038), HTR3D (ENSG00000186090), GABRA5 (ENSG00000186297), ZACN (ENSG00000186919), GABRD (ENSG00000187730), GABRQ (ENSG00000268089)
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:87895) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 24 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| abnormal neuromuscular synapse morphology | 2 |
| abnormal miniature endplate potential | 2 |
| hindlimb paralysis | 1 |
| thin diaphragm muscle | 1 |
| abnormal motor neuron morphology | 1 |
| no spontaneous movement | 1 |
| dehydration | 1 |
| abnormal suckling behavior | 1 |
| trunk curl | 1 |
| cyanosis | 1 |
| decreased embryo size | 1 |
| abnormal breathing pattern | 1 |
| abnormal skin pigmentation | 1 |
| abnormal muscle physiology | 1 |
| abnormal diaphragm morphology | 1 |
| abnormal neuron morphology | 1 |
| abnormal skeletal muscle fiber morphology | 1 |
| increased motor neuron number | 1 |
| abnormal dendrite morphology | 1 |
| abnormal neurite morphology | 1 |
| increased variability of skeletal muscle fiber size | 1 |
| postnatal lethality, complete penetrance | 1 |
| neonatal lethality, complete penetrance | 1 |
| perinatal lethality, incomplete penetrance | 1 |
Additional cross-species homologs
Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.
| Organism | UniProt | Identity | Method |
|---|---|---|---|
| Tetronarce californica | P02710 | 99.1% | Diamond |
| Torpedo marmorata | P02711 | 99.1% | Diamond |
| Pan troglodytes | Q5IS77 | 98.4% | Diamond |
| Crocidura russula | P54248 | 94.0% | Diamond |
| Bos taurus | P04758 | 92.1% | Diamond |
| Caenorhabditis elegans | P54245 | 90.2% | Diamond |
| Gallus gallus | P09484 | 82.8% | Diamond |
| Caenorhabditis briggsae | Q60S81 | 80.6% | Diamond |
| Mustela putorius furo | Q19AE6 | 80.0% | Diamond |
| Xenopus laevis | P05376 | 71.1% | Diamond |
| Carassius auratus | P19370 | 69.1% | Diamond |
| Oncorhynchus mykiss | Q68RJ7 | 67.3% | Diamond |
| Drosophila melanogaster | P04755 | 48.3% | Diamond |
Genomic neighbors (locus context)
Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).
| Symbol | Type | Entrez |
|---|---|---|
| CHRND | protein-coding | 1144 |
| TIGD1 | protein-coding | 200765 |
| EFHD1 | protein-coding | 80303 |
| EIF4E2 | protein-coding | 9470 |
| MIR5001 | ncRNA | 100847037 |
| PRSS56 | protein-coding | 646960 |
| ECEL1 | protein-coding | 9427 |
Protein
Protein identifiers
Acetylcholine receptor subunit gamma — P07510 (reviewed: P07510)
All UniProt accessions (2): A0A6F7YAP6, P07510
UniProt curated annotations — full annotation on UniProt →
Function. After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
Subunit / interactions. Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains.
Subcellular location. Postsynaptic cell membrane. Cell membrane.
Disease relevance. Multiple pterygium syndrome, lethal type (LMPS) [MIM:253290] Multiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent. The disease is caused by variants affecting the gene represented in this entry. Multiple pterygium syndrome, Escobar variant (EVMPS) [MIM:265000] Non-lethal form of arthrogryposis multiplex congenita. It is an autosomal recessive condition characterized by excessive webbing (pterygia), congenital contractures (arthrogryposis), and scoliosis. Variable other features include intrauterine death, congenital respiratory distress, short stature, faciocranial dysmorphism, ptosis, low-set ears, arachnodactyly and cryptorchism in males. Congenital contractures are common and may be caused by reduced fetal movements at sensitive times of development. Possible causes of decreased fetal mobility include space constraints such as oligohydramnion, drugs, metabolic conditions or neuromuscular disorders including myasthenia gravis. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Gamma/CHRNG sub-subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P07510-1 | 1 | yes |
| P07510-2 | 2 |
RefSeq proteins (1): NP_005190* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002394 | Nicotinic_acetylcholine_rcpt | Family |
| IPR006029 | Neurotrans-gated_channel_TM | Domain |
| IPR006201 | Neur_channel | Family |
| IPR006202 | Neur_chan_lig-bd | Domain |
| IPR018000 | Neurotransmitter_ion_chnl_CS | Conserved_site |
| IPR036719 | Neuro-gated_channel_TM_sf | Homologous_superfamily |
| IPR036734 | Neur_chan_lig-bd_sf | Homologous_superfamily |
| IPR038050 | Neuro_actylchol_rec | Homologous_superfamily |
Pfam: PF02931, PF02932
Catalyzed reactions (Rhea)
- K(+)(in) = K(+)(out) (RHEA:29463)
- Na(+)(in) = Na(+)(out) (RHEA:34963)
UniProt features (16 total): transmembrane region 4, sequence variant 3, topological domain 2, glycosylation site 2, signal peptide 1, chain 1, disulfide bond 1, splice variant 1, sequence conflict 1
Structure
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P07510-F1 | 81.91 | 0.47 |
Human Protein Atlas
Protein class: Transporters, Transporter channels and pores, Predicted membrane proteins, Disease related genes, Potential drug targets, Human disease related genes, Congenital malformations, Other congenital malformations
Protein evidence: Evidence at protein level
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (1)
| Type | Positions |
|---|---|
| Disulfide bond | 150–164 |
Glycosylation sites (2)
| Type | Positions |
|---|---|
| N-linked (glcnac…) asparagine | 52, 163 |
Function
Pathways and Gene Ontology
Reactome pathways
1 curated (TAS) of 7; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
7 pathways:
| ID | Pathway | Evidence |
|---|---|---|
| R-HSA-629587 | Highly sodium permeable postsynaptic acetylcholine nicotinic receptors | curated |
| R-HSA-181431 | Acetylcholine binding and downstream events | — |
| R-HSA-112316 | Neuronal System | — |
| R-HSA-112314 | Neurotransmitter receptors and postsynaptic signal transmission | — |
| R-HSA-622327 | Postsynaptic nicotinic acetylcholine receptors | — |
| R-HSA-622323 | Presynaptic nicotinic acetylcholine receptors | — |
| R-HSA-112315 | Transmission across Chemical Synapses | — |
MSigDB gene sets: 380 (showing top):
GOBP_MEMBRANE_DEPOLARIZATION, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_SYNAPTIC_TRANSMISSION_CHOLINERGIC, AP4_Q6, GOBP_MULTICELLULAR_ORGANISMAL_MOVEMENT, TAL1ALPHAE47_01, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_SKELETAL_MUSCLE_CONTRACTION, CAGCTG_AP4_Q5, GOBP_CELL_CELL_SIGNALING, MYOD_01, GOBP_MUSCLE_CONTRACTION, GOBP_REGULATION_OF_POSTSYNAPTIC_MEMBRANE_POTENTIAL, KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND
GO Biological Process (12): skeletal muscle contraction (GO:0003009), muscle contraction (GO:0006936), signal transduction (GO:0007165), chemical synaptic transmission (GO:0007268), monoatomic ion transmembrane transport (GO:0034220), membrane depolarization (GO:0051899), acetylcholine receptor signaling pathway (GO:0095500), monoatomic ion transport (GO:0006811), calcium ion transport (GO:0006816), synaptic transmission, cholinergic (GO:0007271), regulation of postsynaptic membrane potential (GO:0060078), excitatory postsynaptic potential (GO:0060079)
GO Molecular Function (8): channel activity (GO:0015267), acetylcholine receptor activity (GO:0015464), acetylcholine-gated monoatomic cation-selective channel activity (GO:0022848), transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential (GO:1904315), transmembrane signaling receptor activity (GO:0004888), monoatomic ion channel activity (GO:0005216), extracellular ligand-gated monoatomic ion channel activity (GO:0005230), protein binding (GO:0005515)
GO Cellular Component (6): plasma membrane (GO:0005886), acetylcholine-gated channel complex (GO:0005892), neuron projection (GO:0043005), synapse (GO:0045202), postsynaptic membrane (GO:0045211), membrane (GO:0016020)
Reactome top-level categories
6 top-level categories:
| Category | Pathways |
|---|---|
| Acetylcholine binding and downstream events | 2 |
| Presynaptic nicotinic acetylcholine receptors | 1 |
| Postsynaptic nicotinic acetylcholine receptors | 1 |
| Transmission across Chemical Synapses | 1 |
| Neuronal System | 1 |
| Neurotransmitter receptors and postsynaptic signal transmission | 1 |
GO top-level categories
43 GO namespaces:
| Category | Terms |
|---|---|
| regulation of membrane potential | 2 |
| regulation of postsynaptic membrane potential | 2 |
| postsynaptic neurotransmitter receptor activity | 2 |
| striated muscle contraction | 1 |
| musculoskeletal movement | 1 |
| muscle system process | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| anterograde trans-synaptic signaling | 1 |
| monoatomic ion transport | 1 |
| transmembrane transport | 1 |
| acetylcholine receptor activity | 1 |
| postsynaptic signal transduction | 1 |
| cellular response to acetylcholine | 1 |
| transport | 1 |
| metal ion transport | 1 |
| chemical synaptic transmission | 1 |
| chemical synaptic transmission, postsynaptic | 1 |
| passive transmembrane transporter activity | 1 |
| transmembrane signaling receptor activity | 1 |
| synaptic transmission, cholinergic | 1 |
| acetylcholine binding | 1 |
| excitatory extracellular ligand-gated monoatomic ion channel activity | 1 |
| ligand-gated monoatomic cation channel activity | 1 |
| transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential | 1 |
| transmitter-gated monoatomic ion channel activity | 1 |
| signaling receptor activity | 1 |
| monoatomic ion transmembrane transporter activity | 1 |
| channel activity | 1 |
| ligand-gated monoatomic ion channel activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| monoatomic ion channel complex | 1 |
| plasma membrane signaling receptor complex | 1 |
| plasma membrane bounded cell projection | 1 |
| cell junction | 1 |
| synaptic membrane | 1 |
| postsynapse | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
showing 16 of 668 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CHRNG | RAPSN | Q13702 | 885 |
| CHRNG | MUSK | O15146 | 771 |
| CHRNG | DOK7 | Q18PE1 | 655 |
| CHRNG | COLQ | Q9Y215 | 648 |
| CHRNG | AGRN | O00468 | 636 |
| CHRNG | TNNI2 | P48788 | 613 |
| CHRNG | MYH2 | Q9UKX2 | 567 |
| CHRNG | TNNT3 | P45378 | 556 |
| CHRNG | COMMD6 | Q7Z4G1 | 513 |
| CHRNG | COL6A3 | P12111 | 506 |
| CHRNG | TPM2 | P06468 | 503 |
| CHRNG | UTRN | P46939 | 492 |
| CHRNG | CAST | P20810 | 487 |
| CHRNG | MYMK | A6NI61 | 485 |
| CHRNG | MYOG | P15173 | 468 |
| CHRNG | MYH3 | P11055 | 468 |
IntAct
Human interaction partners of CHRNG in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
7 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| NOTCH2NLA | physical association | 0.740 | 5 |
| KRT31 | physical association | 0.670 | 4 |
| KRTAP10-7 | physical association | 0.670 | 4 |
| KRTAP10-8 | physical association | 0.670 | 4 |
| KRTAP10-9 | physical association | 0.670 | 4 |
| ACTL6B | physical association | 0.400 | 1 |
| KRTAP10-3 | physical association | 0.370 | 1 |
BioGRID (41 interactions; top human partners by supporting records): KRT31 (Two-hybrid; 4 records), KRTAP10-8 (Two-hybrid; 4 records), KRTAP10-9 (Two-hybrid; 4 records), NOTCH2NL (Two-hybrid; 4 records), KRTAP10-3 (Two-hybrid; 3 records), KRTAP10-7 (Two-hybrid; 3 records), ACTL6B (Affinity Capture-MS; 2 records), MDFI (Two-hybrid; 2 records), ADAMTSL4 (Two-hybrid), CHRNA1 (Co-fractionation), CYSRT1 (Two-hybrid), KRT34 (Two-hybrid), KRTAP1-1 (Two-hybrid), KRTAP1-3 (Two-hybrid), KRTAP12-3 (Two-hybrid)
SIGNOR signaling
1 signaling interactions:
| A | Effect | B | Mechanism |
|---|---|---|---|
| CHRNG | “form complex” | “Muscle-type nicotinic acetylcholine receptor complex, alpha1-beta1-delta-gamma” | binding |
Ligand–receptor pairs (CellPhoneDB) (1)
Curated ligand–receptor partners (cell-cell communication), distinct from the protein–protein interactions above.
1 ligand–receptor pairs:
| Partner | This gene’s role | Signaling class |
|---|---|---|
| CHRNA1;CHRNB1;CHRND;CHRNG | Signaling by Choline acetyltransferase |
Disease & clinical
Genetic variants
Variant evidence for CHRNG: 542 ClinVar records (69 pathogenic / likely pathogenic); 2 GWAS associations. Per-variant detail is on Sugi Variant.
ClinVar
542 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 36 |
| Likely pathogenic | 33 |
| Uncertain significance | 113 |
| Likely benign | 272 |
| Benign | 29 |
Top pathogenic / likely-pathogenic (15)
Showing the 15 best-reviewed of 69 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.
| Variant ID | HGVS | Classification | Review | Submitters |
|---|---|---|---|---|
| 18342 | NM_005199.5(CHRNG):c.753_754del (p.Val253fs) | Pathogenic | criteria provided, multiple submitters, no conflicts | 19 |
| 449338 | NM_005199.5(CHRNG):c.459dup (p.Val154fs) | Pathogenic | criteria provided, multiple submitters, no conflicts | 17 |
| 419026 | NM_005199.5(CHRNG):c.401_402del (p.Pro134fs) | Pathogenic | criteria provided, multiple submitters, no conflicts | 11 |
| 195239 | NM_005199.5(CHRNG):c.117dup (p.Asn40fs) | Pathogenic | criteria provided, multiple submitters, no conflicts | 10 |
| 18337 | NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys) | Pathogenic | criteria provided, multiple submitters, no conflicts | 9 |
| 18341 | NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter) | Pathogenic | criteria provided, multiple submitters, no conflicts | 8 |
| 431955 | NM_005199.5(CHRNG):c.397del (p.Ser133fs) | Pathogenic | criteria provided, multiple submitters, no conflicts | 6 |
| 217751 | NM_005199.5(CHRNG):c.428C>G (p.Pro143Arg) | Pathogenic | criteria provided, multiple submitters, no conflicts | 4 |
| 1322085 | NM_005199.5(CHRNG):c.56-1G>A | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 |
| 2506924 | NM_005199.5(CHRNG):c.420G>A (p.Trp140Ter) | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 |
| 930743 | NM_005199.5(CHRNG):c.1143G>A (p.Trp381Ter) | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 |
| 2859850 | NM_005199.5(CHRNG):c.807dup (p.Gly270fs) | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 |
| 2961828 | NM_005199.5(CHRNG):c.562C>T (p.Gln188Ter) | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 |
| 692272 | NM_005199.5(CHRNG):c.710_711delinsAA (p.Ile237Lys) | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 |
| 1804085 | NM_005199.5(CHRNG):c.351-2A>G | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 |
Per-variant reference — Sugi Variant
Explore CHRNG’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 31 predictions of 937):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 2:232540132–232540133 | donor_loss | 1.0000 | 5 |
| 2:232542410–232542411 | acceptor_gain | 1.0000 | 2 |
| 2:232542421–232542422 | acceptor_loss | 1.0000 | 5 |
| 2:232542521–232542522 | donor_loss | 1.0000 | 4 |
| 2:232543100 | donor_gain | 1.0000 | |
| 2:232544577 | donor_gain | 1.0000 | |
| 2:232539830 | donor_gain | 0.9900 | |
| 2:232540600–232540601 | acceptor_loss | 0.9900 | 6 |
| 2:232540712–232540713 | donor_loss | 0.9900 | 5 |
| 2:232541547 | donor_gain | 0.9900 |
AlphaMissense
1,014 missense substitutions predicted likely pathogenic (of 3,342 scored), across 283 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:
| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
|---|---|---|---|
| D84 | 8 | 0.984 | 0.993 |
| F168 | 8 | 0.979 | 0.998 |
| D160 | 8 | 0.964 | 0.979 |
| N116 | 8 | 0.958 | 0.996 |
| F157 | 8 | 0.942 | 0.993 |
| F159 | 8 | 0.934 | 0.989 |
| F122 | 8 | 0.932 | 0.995 |
| N203 | 8 | 0.911 | 0.995 |
| F287 | 8 | 0.910 | 0.980 |
| D119 | 8 | 0.899 | 0.974 |
| D196 | 8 | 0.853 | 0.964 |
| D111 | 8 | 0.817 | 0.955 |
| D473 | 8 | 0.805 | 0.910 |
| F311 | 8 | 0.775 | 0.944 |
| C150 | 7 | 0.997 | 0.999 |
| W206 | 7 | 0.997 | 1.000 |
| C164 | 7 | 0.996 | 0.999 |
| W108 | 7 | 0.995 | 0.999 |
| W89 | 7 | 0.988 | 0.998 |
| F200 | 7 | 0.988 | 0.997 |
HPA cancer prognostics
RNA cancer specificity: Cancer enhanced (Uterine Corpus Endometrial Carcinoma)
Disease associations
OMIM: gene MIM:100730 | disease phenotypes: MIM:265000, MIM:253290, MIM:617468, MIM:208150
GenCC curated gene-disease
3 curated gene-disease records:
| Disease | Classification | Inheritance | Records |
|---|---|---|---|
| autosomal recessive multiple pterygium syndrome | Definitive | Autosomal recessive | 3 |
| transient neonatal myasthenia gravis | Strong | Autosomal recessive | |
| lethal multiple pterygium syndrome | Strong | Autosomal recessive | 2 |
ClinGen Gene-Disease Validity
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
1 validity classifications:
| Disease | Classification | Inheritance |
|---|---|---|
| CHRNG-associated hypo-akinesia disorder of prenatal onset | Definitive | AR |
Genomics England panels (PanelApp)
Clinical diagnostic gene panels including this gene (9 panels, 9 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.
9 panels:
| Panel | Rating |
|---|---|
| Arthrogryposis | green |
| Clefting | green |
| Congenital myaesthenic syndrome | green |
| DDG2P | green |
| Fetal anomalies | green |
| Fetal hydrops | green |
| Hypotonic infant | green |
| Other rare neuromuscular disorders | green |
| Paediatric disorders | green |
Mondo (7): autosomal recessive multiple pterygium syndrome (MONDO:0009926), lethal multiple pterygium syndrome (MONDO:0009668), scoliosis (MONDO:0005392), peripheral neuropathy (MONDO:0005244), arthrogryposis multiplex congenita (MONDO:0015168), fetal akinesia deformation sequence 1 (MONDO:0100101), transient neonatal myasthenia gravis (MONDO:0018326)
Orphanet (4): Autosomal recessive multiple pterygium syndrome (Orphanet:2990), Lethal multiple pterygium syndrome (Orphanet:33108), Arthrogryposis multiplex congenita (Orphanet:1037), Fetal akinesia deformation sequence (Orphanet:994)
HPO phenotypes
showing 60 of 122 phenotypes (HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000023 | Inguinal hernia |
| HP:0000028 | Cryptorchidism |
| HP:0000046 | Small scrotum |
| HP:0000047 | Hypospadias |
| HP:0000135 | Hypogonadism |
| HP:0000157 | Abnormality of the tongue |
| HP:0000160 | Narrow mouth |
| HP:0000175 | Cleft palate |
| HP:0000202 | Orofacial cleft |
| HP:0000207 | Triangular mouth |
| HP:0000218 | High palate |
| HP:0000252 | Microcephaly |
| HP:0000268 | Dolichocephaly |
| HP:0000276 | Long face |
| HP:0000286 | Epicanthus |
| HP:0000307 | Pointed chin |
| HP:0000316 | Hypertelorism |
| HP:0000324 | Facial asymmetry |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000364 | Hearing abnormality |
| HP:0000365 | Hearing impairment |
| HP:0000369 | Low-set ears |
| HP:0000405 | Conductive hearing impairment |
| HP:0000457 | Depressed nasal ridge |
| HP:0000465 | Webbed neck |
| HP:0000470 | Short neck |
| HP:0000476 | Cystic hygroma |
| HP:0000486 | Strabismus |
| HP:0000492 | Abnormal eyelid morphology |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000506 | Telecanthus |
| HP:0000508 | Ptosis |
| HP:0000689 | Dental malocclusion |
| HP:0000766 | Abnormal sternum morphology |
| HP:0000767 | Pectus excavatum |
| HP:0000776 | Congenital diaphragmatic hernia |
| HP:0000883 | Thin ribs |
| HP:0000890 | Long clavicle |
| HP:0000902 | Rib fusion |
| HP:0000969 | Edema |
| HP:0001040 | Multiple pterygia |
| HP:0001059 | Pterygium |
| HP:0001060 | Axillary pterygium |
| HP:0001159 | Syndactyly |
| HP:0001166 | Arachnodactyly |
| HP:0001249 | Intellectual disability |
| HP:0001288 | Gait disturbance |
| HP:0001371 | Flexion contracture |
| HP:0001373 | Joint dislocation |
| HP:0001376 | Limitation of joint mobility |
| HP:0001488 | Bilateral ptosis |
| HP:0001508 | Failure to thrive |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001537 | Umbilical hernia |
| HP:0001558 | Decreased fetal movement |
| HP:0001561 | Polyhydramnios |
| HP:0001646 | Abnormal aortic valve morphology |
| HP:0001760 | Abnormal foot morphology |
GWAS associations
2 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST010002_411 | Refractive error | 1e-123 |
| GCST001858_8 | Refractive error | 5e-11 |
MeSH disease descriptors
1 disease descriptors:
| Descriptor | Name | Tree numbers |
|---|---|---|
| D012600 | Scoliosis | C05.116.900.800.875 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (3): CHEMBL1907588 (PROTEIN COMPLEX), CHEMBL2362997 (PROTEIN COMPLEX GROUP), CHEMBL4524133 (PROTEIN COMPLEX GROUP)
Drugs acting on a complex or family that includes this protein
Curated ChEMBL mechanism-of-action drugs whose target is a protein complex or family of ≤10 members that includes CHRNG — the drug acts on the assembly or class, not necessarily on this subunit alone.
14 drugs via a complex or family:
| Drug | Target (ChEMBL) | Members | Max phase |
|---|---|---|---|
| ATRACURIUM BESYLATE | Muscle-type nicotinic acetylcholine receptor | 5 | 4 |
| CISATRACURIUM BESYLATE | Muscle-type nicotinic acetylcholine receptor | 5 | 4 |
| DECAMETHONIUM BROMIDE | Muscle-type nicotinic acetylcholine receptor | 5 | 4 |
| DOXACURIUM CHLORIDE | Muscle-type nicotinic acetylcholine receptor | 5 | 4 |
| GALLAMINE TRIETHIODIDE | Muscle-type nicotinic acetylcholine receptor | 5 | 4 |
| METOCURINE IODIDE | Muscle-type nicotinic acetylcholine receptor | 5 | 4 |
| MIVACURIUM CHLORIDE | Muscle-type nicotinic acetylcholine receptor | 5 | 4 |
| PANCURONIUM BROMIDE | Muscle-type nicotinic acetylcholine receptor | 5 | 4 |
| PIPECURONIUM BROMIDE | Muscle-type nicotinic acetylcholine receptor | 5 | 4 |
| RAPACURONIUM BROMIDE | Muscle-type nicotinic acetylcholine receptor | 5 | 4 |
| ROCURONIUM BROMIDE | Muscle-type nicotinic acetylcholine receptor | 5 | 4 |
| SUCCINYLCHOLINE CHLORIDE | Muscle-type nicotinic acetylcholine receptor | 5 | 4 |
| TUBOCURARINE CHLORIDE | Muscle-type nicotinic acetylcholine receptor | 5 | 4 |
| VECURONIUM BROMIDE | Muscle-type nicotinic acetylcholine receptor | 5 | 4 |
Molecules with ChEMBL bioactivity
Phase ≥1, by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 260,190 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
10 molecules by phase:
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL894 | BUPROPION | 4 | 37,410 |
| CHEMBL267936 | MECAMYLAMINE | 4 | 5,654 |
| CHEMBL3 | NICOTINE | 4 | 187,543 |
| CHEMBL56564 | TROPISETRON | 4 | 19,468 |
| CHEMBL1076903 | VARENICLINE | 4 | 5,898 |
| CHEMBL497939 | CYTISINICLINE | 3 | 2,806 |
| CHEMBL2103881 | DEXMECAMYLAMINE | 3 | 19 |
| CHEMBL134713 | GTS-21 | 2 | 275 |
| CHEMBL1172928 | RADAFAXINE | 2 | 1,085 |
| CHEMBL504652 | TC-2216 | 1 | 32 |
PharmGKB: 1 entry (CPIC guideline: no)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: lgic — Nicotinic acetylcholine receptors (nACh)
Binding affinities (BindingDB)
52 measured of 70 human assays (71 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.
| Ligand | Measure | Value |
|---|---|---|
| (3-ENDO)-8-METHYL-8-AZABICYCLO[3.2.1]OCT-3-YL 1H-INDOLE-3-CARBOXYLATE | KI | 5.3 nM |
| (1R,9R)-7,11-diazatricyclo[7.3.1.0 | EC50 | 11 nM |
| 9-Chloro-1,2,3,4,5,6-hexahydro-1,5-methano-pyrido[1,2-a][1,5]diazocin-8-one | EC50 | 28 nM |
| 9-Bromo-1,2,3,4,5,6-hexahydro-1,5-methano-pyrido[1,2-a][1,5]diazocin-8-one | EC50 | 31 nM |
| 11,11-dimethyl-6-oxo-7-aza-11-azoniatricyclo[7.3.1.0 | EC50 | 37 nM |
| 9-Iodo-1,2,3,4,5,6-hexahydro-1,5-methano-pyrido[1,2-a][1,5]diazocin-8-one | EC50 | 45 nM |
| (2R,4S)-2-(6-Iodo-pyridin-3-yl)-7-aza-bicyclo[2.2.1]heptane | IC50 | 160 nM |
| N-[(3R)-1-azabicyclo[2.2.2]oct-3-yl]-1-benzothiophene-6-carboxamide | IC50 | 188 nM |
| 2-(tert-butylamino)-1-(3-chlorophenyl)propan-1-one | IC50 | 330 nM |
| N-[(3R)-1-azabicyclo[2.2.2]oct-3-yl]-1-benzofuran-5-carboxamide | IC50 | 580 nM |
| (R)-4-chloro-N-(quinuclidin-3-yl)benzamide | KI | 930 nM |
| N-[(3R)-1-azabicyclo[2.2.2]oct-3-yl]-1-benzofuran-6-carboxamide | IC50 | 962 nM |
| 3-(1H-Indole-3-carbonyloxy)-8,8-dimethyl-8-azonia-bicyclo[3.2.1]octane | KI | 3000 nM |
| CHEMBL342235 | IC50 | 5330 nM |
| (2S,3S)-2-Biphenyl-4-yl-3,5,5-trimethylmorpholin-2-ol | IC50 | 5900 nM |
| (2S,3S)-2-(Naphthalen-1-yl)-3,5,5-trimethylmorpholin-2-ol | IC50 | 6600 nM |
| (+/-)2-(3,5-Dichlorophenyl)-3,5,5-trimethylmorpholin-2-ol | IC50 | 7200 nM |
| (+/-)2-(3,4-Dichlorophenyl)-3,5,5-trimethylmorpholin-2-ol | IC50 | 7200 nM |
| (2S,3S)-2-(3-Chlorophenyl)-3,5,5-trimethylmorpholin-2-ol | IC50 | 7600 nM |
| (2S,3S)-2-(3-Chlorophenyl)-5,5-dimethyl-3-propyl-morpholin-2-ol | IC50 | 10000 nM |
| CHEMBL140652 | IC50 | 10100 nM |
| CHEMBL141954 | IC50 | 10900 nM |
| (2S,3S)-2-(Naphthalen-2-yl)-3,5,5-trimethylmorpholin-2-ol | IC50 | 11000 nM |
| N-[1-{3-[4-(3-Amino-propylamino)-butylamino]-propylcarbamoyl}-2-(4-hydroxy-phenyl)-ethyl]-butyramide | IC50 | 11800 nM |
| CHEMBL139085 | IC50 | 12600 nM |
| CHEMBL137909 | IC50 | 13200 nM |
| (2S,3S)-2-(3-Chlorophenyl)-3-ethyl-5,5-dimethylmorpholin-2-ol | IC50 | 14000 nM |
| NSC_6442277 | EC50 | 15000 nM |
| N-[(S)-1-(12-Amino-dodecylcarbamoyl)-2-(4-hydroxy-phenyl)-ethyl]-butyramide | IC50 | 15100 nM |
| CHEMBL140491 | IC50 | 17200 nM |
| (2S,3S)-2-(3-Bromophenyl)-3,5,5-trimethylmorpholin-2-ol | IC50 | 18000 nM |
| (2S,3S)-2-(4-Chlorophenyl)-3,5,5-trimethylmorpholin-2-ol | IC50 | 19000 nM |
| (2S,3S)-3,5,5-Trimethyl-2-(4-methylphenyl)morpholin-2-ol | IC50 | 20000 nM |
| CHEMBL137820 | IC50 | 22300 nM |
| (2S,3S)-2-(3,5-Difluorophenyl)-3,5,5-trimethylmorpholin-2-ol | IC50 | 23000 nM |
| (2S,3S)-2-(4-Methoxyphenyl)-3,5,5-trimethylmorpholin-2-ol | IC50 | 25000 nM |
| CHEMBL141800 | IC50 | 25300 nM |
| CHEMBL140056 | IC50 | 25900 nM |
| (2R,3R)-2-(3-Chlorophenyl)-3,5,5-trimethylmorpholin-2-ol | IC50 | 28000 nM |
| CHEMBL342258 | IC50 | 30700 nM |
| (2S,3S)-2-(m-Tolyl)-3,5,5-trimethylmorpholin-2-ol | IC50 | 33000 nM |
| (2S,3S)-2-(3,4-Difluorophenyl)-3,5,5-trimethylmorpholin-2-ol | IC50 | 36000 nM |
| (2S,3S)-2-(4-Chlorophenyl)-3,4,5,5-tetramethylmorpholin-2-ol | IC50 | 43000 nM |
| (2S,3S)-2-(3-Methoxyphenyl)-3,5,5-trimethylmorpholin-2-ol | IC50 | 49000 nM |
| (2S,3S)-2-(3-Chlorophenyl)-3,4,5,5-tetramethylmorpholin-2-ol | IC50 | 57000 nM |
| (2S,3S)-2-(4-Fluorophenyl)-3,5,5-trimethylmorpholin-2-ol | IC50 | 69000 nM |
| (2S,3S)-2-(3-Nitrophenyl)-3,5,5-trimethylmorpholin-2-ol | IC50 | 96000 nM |
| CHEMBL342483 | IC50 | 104000 nM |
| CHEMBL141037 | IC50 | 105000 nM |
| CHEMBL336882 | IC50 | 110000 nM |
ChEMBL bioactivities
83 potent at pChembl≥5 of 133 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 10.28 | EC50 | 0.053 | nM | EPIBATIDINE |
| 8.82 | IC50 | 1.5 | nM | CHEMBL566050 |
| 8.70 | IC50 | 2 | nM | CHEMBL569465 |
| 8.57 | IC50 | 2.7 | nM | CHEMBL566208 |
| 8.41 | IC50 | 3.9 | nM | CHEMBL566886 |
| 8.24 | IC50 | 5.7 | nM | CHEMBL565844 |
| 8.24 | IC50 | 5.8 | nM | CHEMBL592854 |
| 8.19 | IC50 | 6.5 | nM | CHEMBL599846 |
| 8.12 | IC50 | 7.6 | nM | CHEMBL566001 |
| 8.04 | IC50 | 9.2 | nM | CHEMBL589250 |
| 8.01 | IC50 | 9.8 | nM | CHEMBL568140 |
| 8.00 | IC50 | 10 | nM | CHEMBL565396 |
| 7.96 | EC50 | 11 | nM | CYTISINICLINE |
| 7.96 | IC50 | 11 | nM | CHEMBL566832 |
| 7.92 | IC50 | 12 | nM | CHEMBL566207 |
| 7.92 | IC50 | 12 | nM | CHEMBL565845 |
| 7.85 | IC50 | 14 | nM | CHEMBL566000 |
| 7.80 | IC50 | 16 | nM | CHEMBL603620 |
| 7.80 | IC50 | 16 | nM | CHEMBL578612 |
| 7.80 | IC50 | 16 | nM | CHEMBL567481 |
| 7.77 | IC50 | 17 | nM | CHEMBL578611 |
| 7.72 | IC50 | 19 | nM | CHEMBL596775 |
| 7.72 | IC50 | 19 | nM | CHEMBL599230 |
| 7.62 | IC50 | 24 | nM | CHEMBL578610 |
| 7.58 | IC50 | 26 | nM | CHEMBL605501 |
| 7.55 | EC50 | 28 | nM | CHEMBL64496 |
| 7.55 | IC50 | 28 | nM | CHEMBL566420 |
| 7.51 | EC50 | 31 | nM | CHEMBL305106 |
| 7.50 | IC50 | 32 | nM | CHEMBL576063 |
| 7.43 | EC50 | 37 | nM | CHEMBL181840 |
| 7.39 | IC50 | 41 | nM | CHEMBL598026 |
| 7.35 | EC50 | 45 | nM | CHEMBL62858 |
| 7.28 | IC50 | 53 | nM | CHEMBL589494 |
| 7.16 | IC50 | 69 | nM | CHEMBL565386 |
| 7.06 | IC50 | 87 | nM | CHEMBL580143 |
| 6.60 | Ki | 250 | nM | CYTISINICLINE |
| 6.52 | IC50 | 300 | nM | 2(R)-MECAMYLAMINE |
| 6.50 | Ki | 314 | nM | CHEMBL59986 |
| 6.28 | Ki | 520 | nM | CHEMBL196626 |
| 6.28 | Ki | 530 | nM | CHEMBL1209305 |
| 6.24 | Ki | 580 | nM | CHEMBL2057714 |
| 6.22 | IC50 | 600 | nM | DEXMECAMYLAMINE |
| 6.19 | Ki | 650 | nM | CHEMBL194204 |
| 6.10 | IC50 | 790 | nM | CHEMBL15998 |
| 5.99 | Ki | 1020 | nM | CHEMBL1209070 |
| 5.83 | Ki | 1480 | nM | NICOTINE |
| 5.78 | Ki | 1680 | nM | CHEMBL1209124 |
| 5.61 | IC50 | 2430 | nM | CHEMBL342483 |
| 5.52 | Ki | 3000 | nM | CHEMBL111583 |
| 5.52 | IC50 | 3000 | nM | CHEMBL1812748 |
PubChem BioAssay actives
83 with measured affinity, of 504 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 2-(6-chloro-3-pyridinyl)-7-azabicyclo[2.2.1]heptane | 246397: Change in membrane potential in TE-671 cells expressing acetylcholine neuromuscular receptors | ec50 | 0.0001 | uM |
| 2-(tert-butylamino)-1-(3,4-dichlorophenyl)pentan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0015 | uM |
| 2-(tert-butylamino)-1-(3-chlorophenyl)pentan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0020 | uM |
| 2-(tert-butylamino)-1-(3,4-dichlorophenyl)butan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0027 | uM |
| 2-(tert-butylamino)-1-(3-chlorophenyl)butan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0039 | uM |
| 2-(tert-butylamino)-1-(3-chloro-4-methylphenyl)propan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0057 | uM |
| 2-(cyclopentylamino)-1-(3-methylphenyl)propan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0058 | uM |
| 1-(3-bromophenyl)-2-(cyclopentylamino)propan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0065 | uM |
| 1-(4-bromophenyl)-2-(tert-butylamino)propan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0076 | uM |
| Bupropion | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0079 | uM |
| 2-(cyclopentylamino)-1-(3-methoxyphenyl)propan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0092 | uM |
| 2-(tert-butylamino)-1-(3,4-dichlorophenyl)propan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0098 | uM |
| 1-(3-bromophenyl)-2-(tert-butylamino)propan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0100 | uM |
| cytisinicline | 246397: Change in membrane potential in TE-671 cells expressing acetylcholine neuromuscular receptors | ec50 | 0.0110 | uM |
| 2-(tert-butylamino)-1-(3-methylphenyl)propan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0110 | uM |
| 1-(4-bromo-3-methylphenyl)-2-(tert-butylamino)propan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0120 | uM |
| 2-(tert-butylamino)-1-(4-methylphenyl)propan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0120 | uM |
| 2-(tert-butylamino)-1-(4-chlorophenyl)propan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0140 | uM |
| 2-[tert-butyl(methyl)amino]-1-(3-chlorophenyl)propan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0160 | uM |
| 3-(tert-butylamino)-1-(3-chlorophenyl)-2-methylpropan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0160 | uM |
| 2-(tert-butylamino)-1-(3-methoxyphenyl)propan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0160 | uM |
| 2-(tert-butylamino)-1-(3,5-dichlorophenyl)propan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0170 | uM |
| 2-(cyclopentylamino)-1-(3-nitrophenyl)propan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0190 | uM |
| 1-(3-bromophenyl)-2-piperidin-1-ylpropan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0190 | uM |
| 2-(tert-butylamino)-1-(3,4-difluorophenyl)propan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0240 | uM |
| 2-(cyclopentylamino)-1-(3-fluorophenyl)propan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0260 | uM |
| 1-(3-chlorophenyl)-2-piperidin-1-ylpropan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0280 | uM |
| 5-chloro-7,11-diazatricyclo[7.3.1.02,7]trideca-2,4-dien-6-one | 246397: Change in membrane potential in TE-671 cells expressing acetylcholine neuromuscular receptors | ec50 | 0.0280 | uM |
| 5-bromo-7,11-diazatricyclo[7.3.1.02,7]trideca-2,4-dien-6-one | 246397: Change in membrane potential in TE-671 cells expressing acetylcholine neuromuscular receptors | ec50 | 0.0310 | uM |
| 2-(tert-butylamino)-1-(3-fluorophenyl)propan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0320 | uM |
| 11,11-dimethyl-7-aza-11-azoniatricyclo[7.3.1.02,7]trideca-2,4-dien-6-one iodide | 246397: Change in membrane potential in TE-671 cells expressing acetylcholine neuromuscular receptors | ec50 | 0.0370 | uM |
| 2-(tert-butylamino)-1-(3-nitrophenyl)propan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0410 | uM |
| 5-iodo-7,11-diazatricyclo[7.3.1.02,7]trideca-2,4-dien-6-one | 246397: Change in membrane potential in TE-671 cells expressing acetylcholine neuromuscular receptors | ec50 | 0.0450 | uM |
| 1-(3-methylphenyl)-2-piperidin-1-ylpropan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0530 | uM |
| 2-(tert-butylamino)-1-thiophen-2-ylpropan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0690 | uM |
| 1-(3-methoxyphenyl)-2-piperidin-1-ylpropan-1-one | 459717: Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | ic50 | 0.0870 | uM |
| (1R,2R,4S)-N,2,3,3-tetramethylbicyclo[2.2.1]heptan-2-amine | 1179333: Antagonist activity at human alpha1beta1gammadelta nAChR | ic50 | 0.3000 | uM |
| 3-[[(2S)-azetidin-2-yl]methoxy]pyridine | 1179333: Antagonist activity at human alpha1beta1gammadelta nAChR | ki | 0.3140 | uM |
| 10-azatricyclo[6.3.1.02,7]dodeca-2(7),3,5-triene-4-carbonitrile | 254522: Binding affinity to human Nicotinic acetylcholine receptor alpha-1-beta-gamma-delta expressed in HEK 293 cells using [3H]alpha-bungarotoxin | ki | 0.5200 | uM |
| N-[5-[2-[[(1R,5R,6S)-3-azabicyclo[3.2.1]octan-6-yl]oxy]phenyl]-3-pyridinyl]acetamide;hydrochloride | 495032: Binding affinity to alpha-1-beta-gamma-delta nicotinic receptor | ki | 0.5300 | uM |
| 1’-pyridin-3-ylspiro[1-azabicyclo[2.2.1]heptane-7,3’-pyrrolidine] | 673332: Binding affinity to human muscle nAChR alpha1beta1gammadelta expressed in human TE-671 cells | ki | 0.5800 | uM |
| (1R,2S,4S)-N,2,3,3-tetramethylbicyclo[2.2.1]heptan-2-amine | 1179333: Antagonist activity at human alpha1beta1gammadelta nAChR | ic50 | 0.6000 | uM |
| 1-(10-azatricyclo[6.3.1.02,7]dodeca-2(7),3,5-trien-4-yl)ethanone | 254522: Binding affinity to human Nicotinic acetylcholine receptor alpha-1-beta-gamma-delta expressed in HEK 293 cells using [3H]alpha-bungarotoxin | ki | 0.6500 | uM |
| N-[(2S)-1-(12-aminododecylamino)-3-(4-hydroxyphenyl)-1-oxopropan-2-yl]butanamide | 225872: Antagonist activity at human muscle-type nAChR (embryonic muscle) expressed in TE671 cells; (end value). | ic50 | 0.7900 | uM |
| (1R,5R,6S)-6-(2-pyridin-3-ylphenoxy)-3-azabicyclo[3.2.1]octane;hydrochloride | 495032: Binding affinity to alpha-1-beta-gamma-delta nicotinic receptor | ki | 1.0200 | uM |
| Nicotine | 495032: Binding affinity to alpha-1-beta-gamma-delta nicotinic receptor | ki | 1.4800 | uM |
| 5-[2-[[(1R,5R,6S)-3-azabicyclo[3.2.1]octan-6-yl]oxy]phenyl]pyridin-3-ol;hydrochloride | 495032: Binding affinity to alpha-1-beta-gamma-delta nicotinic receptor | ki | 1.6800 | uM |
| N-[(2S)-1-(12-aminododecylamino)-3-(3-hydroxyphenyl)-1-oxopropan-2-yl]butanamide | 225872: Antagonist activity at human muscle-type nAChR (embryonic muscle) expressed in TE671 cells; (end value). | ic50 | 2.4300 | uM |
| (8,8-dimethyl-8-azoniabicyclo[3.2.1]octan-3-yl) 1H-indole-3-carboxylate | 145855: In vitro Binding affinity towards alpha-1-beta-1-gamma-delta nAChR was determined | ki | 3.0000 | uM |
| 5-[(1R,2S,3S,5S)-3-(4-chloro-3-methylphenyl)-8-methyl-8-azabicyclo[3.2.1]octan-2-yl]-3-phenyl-1,2-oxazole | 610460: Antagonist activity against human muscle-type alpha1beta1gammadelta nAChR in TE671/RD cells assessed as inhibition of carbamylcholine induced 86Rb+ efflux | ic50 | 3.0000 | uM |
CTD chemical–gene interactions
15 total (human), top 15 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, decreases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| licochalcone B | decreases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Persistent Organic Pollutants | increases abundance, increases expression | 1 |
| Acetylcholine | affects binding, increases activity | 1 |
| Carmustine | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Pesticides | increases expression, increases abundance | 1 |
| Phthalic Acids | increases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
ChEMBL screening assays
67 unique, capped per target: 36 binding, 31 functional
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1039312 | Binding | Activity at alpha-1-beta-1-gamma-delta nAChR in human TE671 cells assessed as effect on membrane potential by FLIPR assay | SAR and biological evaluation of SEN12333/WAY-317538: Novel alpha 7 nicotinic acetylcholine receptor agonist. — *Bioorg Med Chem* |
| CHEMBL1068092 | Functional | Antagonist activity at alpha-1-beta-1-gamma-delta nAChR receptor expressed in human TE671/RD cells assessed as inhibition of carbamylcholine-induced 86Rb+ efflux by liquid scintillation counting | Synthesis and biological evaluation of bupropion analogues as potential pharmacotherapies for smoking cessation. — *J Med Chem* |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
showing 60 of 301 trials:
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00508066 | Phase 4 | COMPLETED | Continuous Local Infusion of Anesthetic at the Incisional Site for Scoliosis Surgery |
| NCT00510575 | Phase 4 | COMPLETED | Surgical Outcomes Using Variable Rod Diameters in the Treatment of Idiopathic Scoliosis |
| NCT00768313 | Phase 4 | WITHDRAWN | Phase IV Comparing Rods of Yield Strengths to Correct Adolescent Idiopathic Scoliosis. |
| NCT00880607 | Phase 4 | COMPLETED | Intrathecal Morphine Versus Epidural Extended Release Morphine for Pediatric Patients Undergoing Spinal Fusion |
| NCT00958581 | Phase 4 | COMPLETED | Tranexamic Acid (TXA) Versus Epsilon Aminocaproic Acid (EACA) Versus Placebo for Spine Surgery |
| NCT01852747 | Phase 4 | TERMINATED | Comparison of Actifuse ABX and Local Bone in Spinal Surgery |
| NCT02464813 | Phase 4 | COMPLETED | Effect of Pregabalin on Immediate Post-operative and Longterm Pain |
| NCT02465099 | Phase 4 | TERMINATED | Posterior Spinal Fusion With Two Energy Dissection Techniques |
| NCT06540885 | Phase 4 | COMPLETED | A Comparison Between Palonosetron Versus Granisetron as PONV Prophylaxis in Scoliotic Patients Undergoing Spine Surgery |
| NCT06616220 | Phase 4 | COMPLETED | Dexamethasone for ESPB in Pain Management After Pediatric Idiopathic Scoliosis Surgery |
| NCT06789016 | Phase 4 | COMPLETED | Dexmedetomidine for ESPB in Pain Management After Pediatric Idiopathic Scoliosis Surgery |
| NCT00380965 | Phase 4 | COMPLETED | Evaluation of the Efficacy of Cesamet™ for the Treatment of Pain in Patients With Chemotherapy-Induced Neuropathy |
| NCT00487981 | Phase 4 | TERMINATED | Spinal Cord Stimulation for Painful Diabetic Neuropathy |
| NCT00904202 | Phase 4 | COMPLETED | A Study Of Lidocaine Patch 5% Alone, Gabapentin Alone, And Lidocaine Patch 5% And Gabapentin In Combination For The Relief Of Pain In Patients With Diverse Peripheral Neuropathic Pain Conditions |
| NCT01192113 | Phase 4 | COMPLETED | Safety and Efficacy of Mecobalamin Injection in Peripheral Neuropathies Patients (Study JGAZSY091109) |
| NCT01373983 | Phase 4 | COMPLETED | Intrathecal Bolus Doses of Ziconotide |
| NCT01458015 | Phase 4 | TERMINATED | Tapentadol Versus Oxycodone - a Mechanism-based Treatment Approach in Neuropathic Pain |
| NCT02074267 | Phase 4 | COMPLETED | Clinical Study for Assessment of the Efficacy of Gabapentin (Carbatin and Neurontin) in Patients With Neuropathy Pain |
| NCT02372149 | Phase 4 | UNKNOWN | IVIg for Demyelination in Diabetes Mellitus |
| NCT02670161 | Phase 4 | ENROLLING_BY_INVITATION | Quality Improvement and Practice Based Research in Neurology Using the EMR |
| NCT07022938 | Phase 4 | COMPLETED | Nutritional Supplement for Treating Chemotherapy Induced Neuropathy |
| NCT07025005 | Phase 4 | RECRUITING | Fenofibrate Role in the Prophylaxis From Peripheral Neuropathy Induced by Bortezomib, Lenalidomide and Dexamethasone (VRd) Protocol in the Treatment of Patients With Multiple Myeloma (MM) |
| NCT00323752 | Phase 3 | COMPLETED | Recombinant Human Erythropoietin Compared to Autologous Pre-Donation Prior to Scoliosis Surgery in Children. |
| NCT00684112 | Phase 3 | COMPLETED | Analgesic Effects of Gabapentin After Scoliosis Surgery in Children |
| NCT00737997 | Phase 3 | COMPLETED | Effect of Early Morphine Administration on the Development of Acute Opioid Tolerance During Pediatric Scoliosis Surgery |
| NCT01103115 | Phase 3 | COMPLETED | Calcium + Vitamin D Supplementation for Low Bone Mass in Adolescent Idiopathic Scoliosis (AIS) |
| NCT01108211 | Phase 3 | COMPLETED | Improving Low Bone Mass With Vibration Therapy in Adolescent Idiopathic Scoliosis (AIS) |
| NCT01205256 | Phase 3 | COMPLETED | IRB-HSR# 14145 R,S Methadone: Analgesia and Pharmacokinetics in Adolescents Undergoing Scoliosis Correction |
| NCT02558010 | Phase 3 | COMPLETED | Perioperative Methadone Use to Decrease Opioid Requirement in Pediatric Spinal Fusion Patients |
| NCT03537612 | Phase 3 | TERMINATED | Sensorial and Physiological Mechanism-based Assessments of Perioperative Pain |
| NCT00058071 | Phase 3 | COMPLETED | Amifostine in Treating Peripheral Neuropathy in Patients Who Have Received Chemotherapy for Cancer |
| NCT00125268 | Phase 3 | TERMINATED | Near Infrared Light for the Treatment of Painful Peripheral Neuropathy |
| NCT00195013 | Phase 3 | COMPLETED | Randomized Placebo-Controlled Trial of Glutamine for Breast Cancer Patients With Peripheral Neuropathy |
| NCT00232141 | Phase 3 | COMPLETED | Study of Pregabalin Versus Placebo in the Treatment of Nerve Pain Associated With HIV Neuropathy |
| NCT00264875 | Phase 3 | COMPLETED | Open Label Safety And Efficacy Study Of Pregabalin In Subjects With Nerve Pain Asociated With Human Immunodeficiency Virus (HIV) Neuropathy |
| NCT00369564 | Phase 3 | COMPLETED | Glutamic Acid in Reducing Nerve Damage Caused by Vincristine in Young Patients With Cancer |
| NCT00471445 | Phase 3 | COMPLETED | Topical Amitriptyline and Ketamine Cream in Treating Peripheral Neuropathy Caused by Chemotherapy in Cancer Patients |
| NCT00489411 | Phase 3 | COMPLETED | Duloxetine in Treating Peripheral Neuropathy Caused by Chemotherapy in Patients With Cancer |
| NCT00710554 | Phase 3 | COMPLETED | A Study of Sativex® for Pain Relief of Peripheral Neuropathic Pain, Associated With Allodynia |
| NCT00711880 | Phase 3 | COMPLETED | A Study of Sativex® for Relief of Peripheral Neuropathic Pain Associated With Allodynia. |
| NCT00713323 | Phase 3 | COMPLETED | A Study to Compare the Safety and Tolerability of Sativex® in Patients With Neuropathic Pain. |
| NCT00713817 | Phase 3 | COMPLETED | A Study to Determine the Maintenance of Effect After Long-term Treatment of Sativex® in Subjects With Neuropathic Pain |
| NCT00775645 | Phase 3 | COMPLETED | S0715: Acetyl-L-Carnitine in Preventing Neuropathy in Women With Stage I, II, or IIIA Breast Cancer Undergoing Chemo |
| NCT00872352 | Phase 3 | UNKNOWN | Evaluation of Bortezomib Induced Peripheral Neuropathy of Multiple Myeloma (MM) Patients |
| NCT00998738 | Phase 3 | TERMINATED | Calcium and Magnesium in Preventing Peripheral Neuropathy Caused by Ixabepilone in Patients With Breast Cancer |
| NCT01049217 | Phase 3 | TERMINATED | Pregabalin Versus Placebo In The Treatment Of Neuropathic Pain Associated With HIV Neuropathy |
| NCT01099449 | Phase 3 | COMPLETED | Calcium Gluconate and Magnesium Sulfate in Preventing Neurotoxicity in Patients With Colon Cancer or Rectal Cancer Receiving Oxaliplatin-Based Combination Chemotherapy |
| NCT01288937 | Phase 3 | TERMINATED | A Placebo Controlled, Randomized, Double Blind Trial of Milnacipran for the Treatment of Idiopathic Neuropathy Pain |
| NCT01492920 | Phase 3 | WITHDRAWN | Acetyl-L-Carnitine Hydrochloride in Preventing Peripheral Neuropathy in Patients With Recurrent Ovarian Epithelial Cancer, Primary Peritoneal Cavity Cancer, or Fallopian Tube Cancer Undergoing Chemotherapy |
| NCT01775449 | Phase 3 | COMPLETED | Prevention of Oxaliplatin-induced Neuropathic Pain by a Specific Diet |
| NCT02024191 | Phase 3 | UNKNOWN | The Role of Glutamine for Preventing Oxaliplatin-Induced Peripheral Neuropathy |
| NCT02217267 | Phase 3 | COMPLETED | Long Term Outcome After Serial Lidocaine Infusion in Peripheral Neuropathic Pain |
| NCT02294149 | Phase 3 | UNKNOWN | Vit D3 and Omega 3 in Chemo Induced Neuropathy |
| NCT02311907 | Phase 3 | COMPLETED | Glutathione in Preventing Peripheral Neuropathy Caused by Paclitaxel and Carboplatin in Patients With Ovarian Cancer, Fallopian Tube Cancer, and/or Primary Peritoneal Cancer |
| NCT06071936 | Phase 3 | UNKNOWN | Efficacy and Tolerability of AP707 in Patients With Chronic Pain Due to Traumatic or Post-operative Peripheral Neuropathy |
| NCT06071975 | Phase 3 | UNKNOWN | Long Term Efficacy and Tolerability of AP707 in Patients With Chronic Pain Due to Diabetic Polyneuropathy |
| NCT06071988 | Phase 3 | UNKNOWN | Long Term Efficacy and Tolerability of AP707 in Patients With Chronic Pain Due to Traumatic or Post-operative Peripheral Neuropathy |
| NCT06072573 | Phase 3 | UNKNOWN | Efficacy and Tolerability of AP707 in Patients With Chronic Pain Due to Diabetic Polyneuropathy |
| NCT07287592 | Phase 3 | NOT_YET_RECRUITING | Glutamine for the Prophylaxis of Vincristine-induced Neuropathy in Children and Adolescents With Cancer. |
| NCT00273598 | Phase 2 | COMPLETED | Comparing Two Instrumentation Systems for the Treatment of Adolescent Scoliosis |
Predicted chemistry — Sugi Predict
The predicted patent-compound landscape for CHRNG across ~30M SureChEMBL compounds — explore on Sugi Predict.
Related Atlas pages
- Associated diseases: autosomal recessive multiple pterygium syndrome, transient neonatal myasthenia gravis, lethal multiple pterygium syndrome, CHRNG-associated hypo-akinesia disorder of prenatal onset
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): arthrogryposis multiplex congenita, autosomal recessive multiple pterygium syndrome, CHRNG-associated hypo-akinesia disorder of prenatal onset, fetal akinesia deformation sequence 1, lethal multiple pterygium syndrome, multiple pterygium syndrome, peripheral neuropathy, scoliosis, transient neonatal myasthenia gravis