CHRNB1

Summary

CHRNB1 (cholinergic receptor nicotinic beta 1 subunit, HGNC:1961) is a protein-coding gene on chromosome 17p13.1, encoding Acetylcholine receptor subunit beta (P11230). 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 muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome.

Source: NCBI Gene 1140 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital myasthenic syndrome 2C (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 6
• Clinical variants (ClinVar): 616 total — 18 pathogenic, 17 likely-pathogenic (top 5% of genes corpus-wide)
• GTEx eGene: eQTL in 46 tissues, sQTL in 1 (q < 0.05)
• Phenotypes (HPO): 31
• 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 1.05 (unconstrained)
• MANE Select transcript: NM_000747

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1961
Approved symbol	CHRNB1
Name	cholinergic receptor nicotinic beta 1 subunit
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000170175
Ensembl biotype	protein_coding
OMIM	100710
Entrez	1140

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 12 protein_coding, 2 retained_intron

MANE Select: ENST00000306071

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 4, TSL 3: 1, TSL 4: 1, TSL 5: 1

ENST00000306071, ENST00000536404, ENST00000570557, ENST00000572857, ENST00000573209, ENST00000574054, ENST00000575379, ENST00000576360, ENST00001021053, ENST00001021054, ENST00001021055, ENST00001076253, ENST00001076255, ENST00001139685

RefSeq mRNA: 1 — MANE Select: NM_000747 NM_000747

CCDS: CCDS11106

Canonical transcript exons

ENST00000306071 — 11 exons

Exon	Start	End
ENSE00001147886	7455284	7455456
ENSE00001147902	7447503	7447650
ENSE00001147910	7447043	7447151
ENSE00001147919	7446833	7446942
ENSE00001147940	7445270	7445409
ENSE00001147955	7445061	7445185
ENSE00001202416	7455794	7455941
ENSE00001202452	7456583	7457710
ENSE00003504077	7446069	7446113
ENSE00003537244	7454297	7454520
ENSE00003655520	7448579	7448788

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 97.36.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.8745 / max 294.6666, expressed in 1655 samples.

Highest expression (Bgee): gastrocnemius, hindlimb stylopod muscle, muscle of leg, muscle organ, skeletal muscle tissue.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CHRNB1 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 46 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 47 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Muscle Skeletal	eqtl	1.2e-93	-0.55	17:7455611:G:A
Nerve Tibial	eqtl	1.9e-51	+0.47	17:7455542:T:C
Adipose Subcutaneous	eqtl	6.8e-49	+0.45	17:7455542:T:C
Artery Tibial	eqtl	1.7e-46	+0.47	17:7455542:T:C
Testis	eqtl	4.8e-40	+1.05	17:7453283:A:G
Cells Cultured fibroblasts	eqtl	1.1e-35	+0.31	17:7455542:T:C
Adipose Visceral Omentum	eqtl	2.0e-29	+0.31	17:7459769:T:C
Skin Not Sun Exposed Suprapubic	eqtl	3.5e-26	+0.47	17:7458218:G:A
Esophagus Muscularis	eqtl	8.0e-26	+0.48	17:7455542:T:C
Skin Sun Exposed Lower leg	eqtl	4.6e-24	+0.41	17:7458218:G:A
Esophagus Gastroesophageal Junction	eqtl	4.6e-23	+0.50	17:7455542:T:C
Whole Blood	eqtl	8.4e-22	+0.37	17:7452302:A:C
Esophagus Mucosa	eqtl	1.8e-21	+0.51	17:7455201:C:T
Lung	eqtl	7.4e-20	+0.32	17:7455542:T:C
Stomach	eqtl	1.4e-18	+0.53	17:7455542:T:C
Artery Aorta	eqtl	7.1e-17	+0.35	17:7443723:A:C
Brain Caudate basal ganglia	eqtl	8.0e-17	+0.37	17:7470276:T:C
Colon Sigmoid	eqtl	8.4e-17	+0.40	17:7455542:T:C
Breast Mammary Tissue	eqtl	4.3e-16	-0.35	17:7473092:C:T
Pituitary	eqtl	5.8e-15	+0.48	17:7449657:G:T

FANTOM5 promoters

5 alternative TSS:

Promoter ID	TPM avg	Samples expressed
159198	4.1037	593
159202	2.1929	1228
159201	0.6477	397
159200	0.5107	274
159199	0.4194	272

Top tissues by expression

showing 100 of 137 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	97.36	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.60	gold quality
muscle of leg	UBERON:0001383	96.47	gold quality
muscle organ	UBERON:0001630	96.44	gold quality
skeletal muscle tissue	UBERON:0001134	95.65	gold quality
right adrenal gland cortex	UBERON:0035827	91.42	gold quality
right adrenal gland	UBERON:0001233	91.35	gold quality
muscle tissue	UBERON:0002385	90.54	gold quality
left adrenal gland	UBERON:0001234	90.52	gold quality
left adrenal gland cortex	UBERON:0035825	90.47	gold quality
adrenal gland	UBERON:0002369	88.79	gold quality
placenta	UBERON:0001987	87.05	gold quality
right lobe of liver	UBERON:0001114	84.41	gold quality
amygdala	UBERON:0001876	83.34	gold quality
granulocyte	CL:0000094	83.33	gold quality
temporal lobe	UBERON:0001871	83.33	gold quality
prefrontal cortex	UBERON:0000451	83.26	gold quality
islet of Langerhans	UBERON:0000006	83.25	gold quality
pancreas	UBERON:0001264	83.14	gold quality
body of pancreas	UBERON:0001150	83.05	gold quality
monocyte	CL:0000576	82.93	gold quality
leukocyte	CL:0000738	82.91	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	82.87	gold quality
apex of heart	UBERON:0002098	82.60	gold quality
putamen	UBERON:0001874	82.44	gold quality
substantia nigra	UBERON:0002038	82.35	gold quality
caudate nucleus	UBERON:0001873	82.26	gold quality
Ammon’s horn	UBERON:0001954	82.17	gold quality
cortical plate	UBERON:0005343	82.08	gold quality
anterior cingulate cortex	UBERON:0009835	81.94	gold quality
bone marrow	UBERON:0002371	81.93	gold quality
thyroid gland	UBERON:0002046	81.90	gold quality
left lobe of thyroid gland	UBERON:0001120	81.88	gold quality
heart left ventricle	UBERON:0002084	81.87	gold quality
right lobe of thyroid gland	UBERON:0001119	81.82	gold quality
right atrium auricular region	UBERON:0006631	81.79	gold quality
frontal cortex	UBERON:0001870	81.68	gold quality
frontal lobe	UBERON:0016525	81.68	gold quality
cerebral cortex	UBERON:0000956	81.27	gold quality
liver	UBERON:0002107	81.19	gold quality
nucleus accumbens	UBERON:0001882	81.11	gold quality
heart	UBERON:0000948	81.05	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	80.37	gold quality
hypothalamus	UBERON:0001898	80.21	gold quality
metanephros cortex	UBERON:0010533	80.03	gold quality
right frontal lobe	UBERON:0002810	79.95	gold quality
bone marrow cell	CL:0002092	79.72	gold quality
adult mammalian kidney	UBERON:0000082	79.72	gold quality
brain	UBERON:0000955	79.71	gold quality
Brodmann (1909) area 9	UBERON:0013540	79.27	gold quality
lower esophagus mucosa	UBERON:0035834	79.04	gold quality
colonic epithelium	UBERON:0000397	78.66	gold quality
cortex of kidney	UBERON:0001225	78.54	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.34	gold quality
adrenal tissue	UBERON:0018303	78.15	gold quality
saliva-secreting gland	UBERON:0001044	77.83	gold quality
right coronary artery	UBERON:0001625	77.77	gold quality
minor salivary gland	UBERON:0001830	77.76	gold quality
lymph node	UBERON:0000029	77.74	gold quality
material anatomical entity	UBERON:0000465	77.68	gold quality
multicellular organism	UBERON:0000468	77.68	gold quality
left coronary artery	UBERON:0001626	77.65	gold quality
kidney	UBERON:0002113	77.64	gold quality
smooth muscle tissue	UBERON:0001135	77.61	gold quality
ganglionic eminence	UBERON:0004023	77.50	gold quality
descending thoracic aorta	UBERON:0002345	76.98	gold quality
thoracic aorta	UBERON:0001515	76.92	gold quality
skin of leg	UBERON:0001511	76.79	gold quality
ascending aorta	UBERON:0001496	76.75	gold quality
mucosa of transverse colon	UBERON:0004991	76.64	gold quality
blood	UBERON:0000178	76.61	gold quality
zone of skin	UBERON:0000014	76.59	gold quality
superior frontal gyrus	UBERON:0002661	76.51	gold quality
lower esophagus	UBERON:0013473	76.51	gold quality
lower esophagus muscularis layer	UBERON:0035833	76.48	gold quality
esophagus	UBERON:0001043	76.38	gold quality
esophagus mucosa	UBERON:0002469	76.34	gold quality
ectocervix	UBERON:0012249	76.32	gold quality
skin of abdomen	UBERON:0001416	76.28	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	76.21	gold quality
endocervix	UBERON:0000458	76.20	gold quality
vagina	UBERON:0000996	76.19	gold quality
spleen	UBERON:0002106	76.19	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	76.18	gold quality
adipose tissue	UBERON:0001013	75.80	gold quality
omental fat pad	UBERON:0010414	75.79	gold quality
subcutaneous adipose tissue	UBERON:0002190	75.76	gold quality
primary visual cortex	UBERON:0002436	75.49	gold quality
mucosa of stomach	UBERON:0001199	75.48	gold quality
body of uterus	UBERON:0009853	75.29	gold quality
transverse colon	UBERON:0001157	75.27	gold quality
adenohypophysis	UBERON:0002196	75.20	gold quality
popliteal artery	UBERON:0002250	75.20	gold quality
tibial artery	UBERON:0007610	75.18	gold quality
fallopian tube	UBERON:0003889	75.10	gold quality
colon	UBERON:0001155	74.97	gold quality
muscle layer of sigmoid colon	UBERON:0035805	74.93	gold quality
fundus of stomach	UBERON:0001160	74.88	gold quality
duodenum	UBERON:0002114	74.86	gold quality
pituitary gland	UBERON:0000007	74.78	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.60

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 79 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Skeletal muscle	tissue	59.7	not detected
Tongue	tissue	53.8
Choroid plexus	tissue	11.1
Pancreas	tissue	9.6	low
Adrenal gland	tissue	9.0	low
Parathyroid gland	tissue	8.6	low
Bone marrow	tissue	8.6	low
Corpus callosum	tissue	8.1
Vagina	tissue	7.0	low
Thyroid gland	tissue	7.0	low
Hippocampus	tissue	6.9	medium
Pituitary gland	tissue	6.5
Placenta	tissue	6.3	medium
Superior colliculi	tissue	6.2
Spinal cord	tissue	6.2
Heart muscle	tissue	6.1	not detected
Nucleus accumbens	tissue	6.1
Thymus	tissue	6.0
Midbrain	tissue	5.8
Medulla oblongata	tissue	5.8
Substantia nigra	tissue	5.8
Liver	tissue	5.5	low
Locus coeruleus	tissue	5.5
Thalamus	tissue	5.4
Cerebellum	tissue	5.4	medium
Periaqueductal gray	tissue	5.3
Pons	tissue	5.1
Postcentral gyrus	tissue	5.1
Skin 1	tissue	4.9	low
Hypothalamus	tissue	4.9
Epididymis	tissue	4.8	medium
Putamen	tissue	4.8
Hippocampal formation	tissue	4.5
Ventral forebrain	tissue	4.5
Amygdala	tissue	4.4
Cerebral cortex	tissue	4.3	medium
Septum	tissue	4.3
Insular cortex	tissue	4.3
Motor cortex	tissue	4.1
Prefrontal cortex	tissue	3.9
Esophagus	tissue	3.9	low
Basal ganglia	tissue	3.9	medium
Spleen	tissue	3.9	medium
Occipital cortex	tissue	3.9
Cervix	tissue	3.8	medium
Olfactory bulb	tissue	3.8
Retrosplenial cortex	tissue	3.8
Ovary	tissue	3.7	not detected
Entorhinal cortex	tissue	3.7
Salivary gland	tissue	3.6	low
Tonsil	tissue	3.6	medium
Retrosplenial and cingulate cortex	tissue	3.6
Temporal cortex	tissue	3.6
Kidney	tissue	3.5	medium
Lymph node	tissue	3.4	low
Somatosensory cortex	tissue	3.4
Adipose tissue	tissue	3.3	not detected
Fallopian tube	tissue	3.2	medium
Breast	tissue	3.1	low
Retina	tissue	3.0

Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Dorsal funiculus (white matter) (9.4), Globus pallidus, externus (8.8), Nucleus raphe obscurus (8.4), Inferior olive (8.2), Anterior funiculus (white matter) (8.1).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC, TEF

miRNA regulators (miRDB)

Targeting CHRNB1 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

30 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-186-3P	99.51	66.24	1685
HSA-MIR-217-5P	99.49	69.93	1419
HSA-MIR-4999-5P	99.35	69.15	926
HSA-MIR-504-3P	99.30	67.18	1745
HSA-MIR-6807-3P	99.15	69.23	1275
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-6506-5P	99.04	65.66	1386
HSA-MIR-6770-5P	98.97	66.76	1853
HSA-MIR-455-3P	98.94	67.68	878
HSA-MIR-2355-5P	98.83	65.51	1589
HSA-MIR-4272	98.76	68.74	1810
HSA-MIR-619-5P	98.57	64.97	1988
HSA-MIR-5089-5P	98.45	66.06	1388
HSA-MIR-302F	98.44	69.02	1776
HSA-MIR-5008-5P	98.42	65.87	1019
HSA-MIR-6792-5P	98.39	68.16	1330
HSA-MIR-653-3P	98.31	67.71	1542
HSA-MIR-744-3P	97.99	67.76	637
HSA-MIR-4733-5P	97.75	67.44	866
HSA-MIR-4653-3P	96.26	67.03	725

Functional genomics

gnomAD constraint: pLI 1.01e-13, LOEUF 1.05, missense Z 1.23 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000306071 — one region, missense o/e 0.92.

Literature-anchored findings (GeneRIF, showing 10)

• Association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence. (PMID:16874522)
• the beta1 subunit showed significantly increased expression in lung tumors as compared to non-tumor bronchial tissue (PMID:17015027)
• No CHRNA1, CHRNB1, or CHRND mutations were detected, but a homozygous RAPSN frameshift mutation, c.1177-1178delAA, was identified in a family with three children affected with lethal fetal akinesia sequence. (PMID:18179903)
• Extracellular beta1-beta2 and cysteine-loops bridge the pre-M1 transmembrane domain and M2-M3 linker to transduce agonist binding into channel gating. (PMID:19279256)
• Single nucleotide polymorphisms , rs55633891 (alpha9, C>T) and rs17856697 (beta1, A>G), did not exhibit a significant trend to be associated with cervical lesions. (PMID:22406075)
• These findings identify novel Golgi retention signals in the beta and delta subunit loops that regulate surface trafficking of assembled AChR and may help prevent surface expression of unassembled subunits. (PMID:24240098)
• Study traced the cause of congenital myasthenia syndrome in unrelated patients with dominant missense mutations in the M2 domain of AChR. A valine residue is replaced by a smaller alanine either in the epsilon subunit or an equivalent position in the beta one. Also, each valine in the valine ring was found to contribute to channel kinetics equally, and the valine ring has bee optimized during evolution to govern channe… (PMID:27375219)
• This study reports on the presence of the CHRNB1 at the cellular level in human skeletal muscle and placenta and that mRNA expression mirrors that of protein within cell types. (PMID:28153524)
• CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum. (PMID:33296147)
• Reply to Zhu et al.: Implications of CHRNB1 and ERBB2 in the pathobiology of myasthenia gravis. (PMID:35969799)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	chrnb1l	ENSDARG00000022532
danio_rerio	chrnb1	ENSDARG00000069660
mus_musculus	Chrnb1	ENSMUSG00000041189
rattus_norvegicus	Chrnb1	ENSRNOG00000014698

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), CHRNA9 (ENSG00000174343), CHRNA7 (ENSG00000175344), HTR3C (ENSG00000178084), GABRG3 (ENSG00000182256), GABRR3 (ENSG00000183185), HTR3E (ENSG00000186038), HTR3D (ENSG00000186090), GABRA5 (ENSG00000186297), ZACN (ENSG00000186919), GABRD (ENSG00000187730), CHRNG (ENSG00000196811), GABRQ (ENSG00000268089)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:87890) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 11 distinct phenotype terms.

Mouse phenotype (MP)	Records
cleft palate	1
abnormal neuromuscular synapse morphology	1
abnormal locomotor behavior	1
abnormal gait	1
abnormal embryo size	1
edema	1
hemorrhage	1
abnormal facial morphology	1
abnormal miniature endplate potential	1
preweaning lethality, complete penetrance	1
preweaning 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
Pan troglodytes	Q5IS75	100.0%	Diamond
Tetronarce californica	P02710	99.1%	Diamond
Torpedo marmorata	P02711	99.1%	Diamond
Macaca mulatta	Q866A2	99.0%	Diamond
Bos taurus	P02709	96.7%	Diamond
Caenorhabditis briggsae	A8WQK3	95.6%	Diamond
Caenorhabditis elegans	P48180	95.6%	Diamond
Crocidura russula	P54248	94.0%	Diamond
Gallus gallus	P22770	91.7%	Diamond
Xenopus laevis	P05377	82.6%	Diamond
Carassius auratus	P13908	82.6%	Diamond
Mustela putorius furo	Q19AE6	80.0%	Diamond
Drosophila melanogaster	P17644	79.7%	Diamond
Schistocerca gregaria	P23414	79.7%	Diamond
Onchocerca volvulus	P54247	68.5%	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
TNFSF12-TNFSF13	protein-coding	407977
POLR2A	protein-coding	5430
ZBTB4	protein-coding	57659
SLC35G6	protein-coding	643664
TNFSF13	protein-coding	8741
TNFSF12	protein-coding	8742
SPEM3	protein-coding	107983988
SPEM2	protein-coding	201243
FGF11	protein-coding	2256
TMEM102	protein-coding	284114

Protein

Protein identifiers

Acetylcholine receptor subunit beta — P11230 (reviewed: P11230)

All UniProt accessions (5): P11230, I3L1T7, I3L3Q9, I3L4N5, I3L535

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. The muscle heteropentamer composed of alpha-1, beta-1, delta, epsilon subunits interacts with the alpha-conotoxin ImII.

Subcellular location. Postsynaptic cell membrane. Cell membrane.

Disease relevance. Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A) [MIM:616313] A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS2A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. The disease is caused by variants affecting the gene represented in this entry. Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency (CMS2C) [MIM:616314] A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS2C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. CMS2C is clinically characterized by early-onset muscle weakness with variable severity. 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. Beta-1/CHRNB1 sub-subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
P11230-1	1	yes
P11230-2	2

RefSeq proteins (1): NP_000738* (*=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 (59 total): helix 17, strand 15, turn 7, sequence variant 6, transmembrane region 4, sequence conflict 2, topological domain 2, signal peptide 1, chain 1, disulfide bond 1, splice variant 1, modified residue 1, glycosylation site 1

Structure

Experimental structures (PDB)

25 structures by resolution:

PDB	Title	Method	Resolution (Å)
9DMS	Human muscle nAChR with fab6-bound	ELECTRON MICROSCOPY	1.92
9DMG	Human muscle nAChR apo state	ELECTRON MICROSCOPY	2.05
9DMH	Human muscle nAChR ACh-bound state	ELECTRON MICROSCOPY	2.06
9DMQ	Human muscle nAChR with fab3-bound	ELECTRON MICROSCOPY	2.06
9DMV	Human muscle nAChR with fab9-bound	ELECTRON MICROSCOPY	2.13
9DMT	Human muscle nAChR with fab7-bound	ELECTRON MICROSCOPY	2.18
9DMJ	Human muscle nAChR with two fab1b-bound	ELECTRON MICROSCOPY	2.19
9YER	Human muscle nAChR SCCMS eT264P ACh bound	ELECTRON MICROSCOPY	2.19
9YE8	Human muscle nAChR SCCMS eL269F ACh bound	ELECTRON MICROSCOPY	2.22
9DML	Human muscle nAChR with fab2-bound	ELECTRON MICROSCOPY	2.24
9YEI	Human muscle nAChR SCCMS eL269F ACh, Reboxetine bound (lower 1)	ELECTRON MICROSCOPY	2.36
9YET	Human muscle nAChR SCCMS eT264P ACh, Reboxetine bound	ELECTRON MICROSCOPY	2.36
9YEU	Human muscle nAChR SCCMS bV266M ACh bound	ELECTRON MICROSCOPY	2.39
9YE7	Human muscle nAChR FCCMS eP121L ACh, XG-590 bound	ELECTRON MICROSCOPY	2.44
9DMK	Human muscle nAChR with one fab1b-bound	ELECTRON MICROSCOPY	2.46
9YEH	Human muscle nAChR SCCMS eL269F ACh, Reboxetine bound (upper)	ELECTRON MICROSCOPY	2.46
9YE6	Human muscle nAChR FCCMS eP121L ACh-bound	ELECTRON MICROSCOPY	2.47
9YEX	Human muscle nAChR SCCMS bV266M ACh, Quinidine bound	ELECTRON MICROSCOPY	2.47
9GU1	Human adult muscle nAChR in resting state in nanodisc with alpha-bungarotoxin	ELECTRON MICROSCOPY	2.48
9YEL	Human muscle nAChR SCCMS eL269F ACh, Fluoxetine bound	ELECTRON MICROSCOPY	2.48
9GU3	Human adult muscle nAChR in desensitised state in nanodisc with 1 mM acetylcholine	ELECTRON MICROSCOPY	2.64
9YEK	Human muscle nAChR SCCMS eL269F ACh, Reboxetine bound (lower 2)	ELECTRON MICROSCOPY	2.68
9GU2	Human adult muscle nAChR in desensitised state in nanodisc with 100 uM acetylcholine	ELECTRON MICROSCOPY	2.73
9YF0	Human muscle nAChR SCCMS aV249F ACh, Fluoxetine bound	ELECTRON MICROSCOPY	2.79
9GU0	Human adult muscle nAChR in resting state in detergent with alpha-bungarotoxin	ELECTRON MICROSCOPY	2.96

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P11230-F1	80.01	0.45

Antibody-complex structures (SAbDab)

10 antibodies co-crystallized with this protein: 9DMJ, 9DMK, 9DMQ, 9DMS, 9DMT, 9DMV, 9GU0, 9GU1, 9GU2, 9GU3

Human Protein Atlas

Protein class: Transporters, Transporter channels and pores, Predicted membrane proteins, Predicted intracellular proteins, Disease related genes, Potential drug targets, Human disease related genes

Protein evidence: Evidence at protein level

Antibody reliability (HPA): IH approved

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1)

Type	Positions
Phosphotyrosine	390

Disulfide bonds (1)

Type	Positions
Disulfide bond	151–165

Glycosylation sites (1)

Type	Positions
N-linked (glcnac…) asparagine	164

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 331 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, MODULE_92, GOBP_MEMBRANE_DEPOLARIZATION, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, MODULE_328, MODULE_274, GOBP_BEHAVIOR, ENK_UV_RESPONSE_KERATINOCYTE_UP, GCANCTGNY_MYOD_Q6, GOBP_ADULT_BEHAVIOR, MODULE_64, AREB6_03, GOBP_SYNAPTIC_TRANSMISSION_CHOLINERGIC, GOBP_MULTICELLULAR_ORGANISMAL_MOVEMENT, MODULE_329

GO Biological Process (18): postsynaptic membrane organization (GO:0001941), skeletal muscle contraction (GO:0003009), monoatomic cation transport (GO:0006812), muscle contraction (GO:0006936), signal transduction (GO:0007165), synaptic transmission, cholinergic (GO:0007271), neuromuscular synaptic transmission (GO:0007274), monoatomic ion transmembrane transport (GO:0034220), behavioral response to nicotine (GO:0035095), regulation of membrane potential (GO:0042391), nervous system process (GO:0050877), membrane depolarization (GO:0051899), muscle cell development (GO:0055001), acetylcholine receptor signaling pathway (GO:0095500), monoatomic ion transport (GO:0006811), calcium ion transport (GO:0006816), regulation of postsynaptic membrane potential (GO:0060078), excitatory postsynaptic potential (GO:0060079)

GO Molecular Function (11): transmembrane signaling receptor activity (GO:0004888), channel activity (GO:0015267), ligand-gated monoatomic ion channel activity (GO:0015276), acetylcholine-gated monoatomic cation-selective channel activity (GO:0022848), acetylcholine binding (GO:0042166), transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential (GO:1904315), monoatomic ion channel activity (GO:0005216), extracellular ligand-gated monoatomic ion channel activity (GO:0005230), protein binding (GO:0005515), acetylcholine receptor activity (GO:0015464), neurotransmitter receptor activity (GO:0030594)

GO Cellular Component (8): plasma membrane (GO:0005886), acetylcholine-gated channel complex (GO:0005892), neuromuscular junction (GO:0031594), neuron projection (GO:0043005), synapse (GO:0045202), postsynaptic specialization membrane (GO:0099634), membrane (GO:0016020), postsynaptic membrane (GO:0045211)

GO top-level categories

57 GO namespaces:

Category	Terms
monoatomic ion transport	2
chemical synaptic transmission	2
regulation of membrane potential	2
regulation of postsynaptic membrane potential	2
signaling receptor activity	2
postsynaptic neurotransmitter receptor activity	2
synaptic membrane	2
membrane organization	1
postsynapse organization	1
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
transmembrane transport	1
adult behavior	1
response to nicotine	1
monoatomic ion transmembrane transport	1
regulation of biological quality	1
system process	1
muscle cell differentiation	1
cell development	1
acetylcholine receptor activity	1
postsynaptic signal transduction	1
cellular response to acetylcholine	1
transport	1
metal ion transport	1
chemical synaptic transmission, postsynaptic	1
passive transmembrane transporter activity	1
monoatomic ion channel activity	1
ligand-gated channel activity	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
cation binding	1
transmitter-gated monoatomic ion channel activity	1
monoatomic ion transmembrane transporter activity	1
channel activity	1
ligand-gated monoatomic ion channel activity	1
binding	1
transmembrane signaling receptor activity	1
synaptic transmission, cholinergic	1
acetylcholine binding	1
membrane	1
cell periphery	1
monoatomic ion channel complex	1
plasma membrane signaling receptor complex	1
synapse	1
plasma membrane bounded cell projection	1
cell junction	1
postsynaptic membrane	1
postsynaptic specialization	1
cellular anatomical structure	1
postsynapse	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 14 of 37 annotations. The rest are phylogenetic / computational / electronic (IEA).

14 experimentally-supported GO terms:

GO term	NS	Evidence
behavioral response to nicotine	BP	mutant phenotype
monoatomic cation transport	BP	mutant phenotype
muscle cell development	BP	mutant phenotype
muscle contraction	BP	mutant phenotype
nervous system process	BP	mutant phenotype
neuromuscular synaptic transmission	BP	mutant phenotype
postsynaptic membrane organization	BP	mutant phenotype
signal transduction	BP	mutant phenotype
synaptic transmission, cholinergic	BP	mutant phenotype
acetylcholine-gated channel complex	CC	mutant phenotype
neuromuscular junction	CC	direct assay
synapse	CC	mutant phenotype
channel activity	MF	mutant phenotype
transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 550 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CHRNB1	RAPSN	Q13702	909
CHRNB1	DOK7	Q18PE1	786
CHRNB1	COLQ	Q9Y215	783
CHRNB1	MUSK	O15146	774
CHRNB1	CHRNA1	P02708	598
CHRNB1	ACHE	P22303	540
CHRNB1	ALG14	Q96F25	526
CHRNB1	DPAGT1	Q9H3H5	514
CHRNB1	SCN4A	P35499	505
CHRNB1	GFPT1	Q06210	493
CHRNB1	AGRN	O00468	478
CHRNB1	CHRND	Q07001	472
CHRNB1	CHRM5	P08912	459
CHRNB1	TGFB3	P10600	429
CHRNB1	FGA	P02671	427

IntAct

Human interaction partners of CHRNB1 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

7 partners by confidence:

Partner	Interaction type	MIscore	Records
ASB6	physical association	0.560	3
WLS	association	0.530	1
BET1	association	0.350	1
CHRND	association	0.350	1
CLGN	association	0.350	1
DUOXA2	association	0.350	1
COPS6	physical association	0.000	1

BioGRID (28 interactions; top human partners by supporting records): AGTRAP (Affinity Capture-MS), APOL2 (Affinity Capture-MS), ASB6 (Two-hybrid), ATF6 (Affinity Capture-MS), BET1 (Affinity Capture-MS), BNIP1 (Affinity Capture-MS), C1orf43 (Affinity Capture-MS), CISD2 (Affinity Capture-MS), DAG1 (Affinity Capture-MS), DNAJC18 (Affinity Capture-MS), DNAJC30 (Affinity Capture-MS), EDA (Affinity Capture-MS), FAM63A (Affinity Capture-MS), GHDC (Affinity Capture-MS), LEMD2 (Affinity Capture-MS)

SIGNOR signaling

2 signaling interactions:

A	Effect	B	Mechanism
CHRNB1	“form complex”	“Muscle-type nicotinic acetylcholine receptor complex, alpha1-beta1-delta-epsilon”	binding
CHRNB1	“form complex”	“Muscle-type nicotinic acetylcholine receptor complex, alpha1-beta1-delta-gamma”	binding

Protein complexes (CORUM) (1)

Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).

1 complexes by size:

Complex	Subunits	Members
★ CHRNA1-CHRNB1-CHRND-CHRNE-CHRNA7 complex	5	CHRNA1, CHRNA7, CHRNB1, CHRND, CHRNE

Ligand–receptor pairs (CellPhoneDB) (2)

Curated ligand–receptor partners (cell-cell communication), distinct from the protein–protein interactions above.

2 ligand–receptor pairs:

Partner	This gene’s role	Signaling class
CHRNA1;CHRNB1;CHRND;CHRNE		Signaling by Choline acetyltransferase
CHRNA1;CHRNB1;CHRND;CHRNG		Signaling by Choline acetyltransferase

Disease & clinical

Genetic variants

Variant evidence for CHRNB1: 616 ClinVar records (35 pathogenic / likely pathogenic); 6 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

616 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	18
Likely pathogenic	17
Uncertain significance	312
Likely benign	165
Benign	46

Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 35 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
18372	NM_000747.3(CHRNB1):c.865G>A (p.Val289Met)	Pathogenic	criteria provided, multiple submitters, no conflicts	5
18373	NM_000747.3(CHRNB1):c.853C>A (p.Leu285Met)	Pathogenic	criteria provided, single submitter	2
18374	NM_000747.3(CHRNB1):c.1347_1355del (p.Glu449_Glu451del)	Pathogenic	criteria provided, single submitter	2
280253	NM_000747.3(CHRNB1):c.919del (p.Ile307fs)	Pathogenic	criteria provided, single submitter	1
430426	NM_000747.3(CHRNB1):c.295_299delinsACG (p.Asp99fs)	Pathogenic	criteria provided, single submitter	1
451505	NM_000747.3(CHRNB1):c.645_646del (p.Arg216fs)	Pathogenic	criteria provided, single submitter	1
631787	NM_000747.3(CHRNB1):c.605dup (p.Ile203fs)	Pathogenic	criteria provided, single submitter	1
860460	NM_000747.3(CHRNB1):c.866T>C (p.Val289Ala)	Pathogenic	criteria provided, single submitter	1
1068934	NM_000747.3(CHRNB1):c.759dup (p.Ala254fs)	Pathogenic	criteria provided, single submitter	1
2023085	NM_000747.3(CHRNB1):c.1072_1073del (p.Leu358fs)	Pathogenic	criteria provided, single submitter	1
2118016	NM_000747.3(CHRNB1):c.1102_1103del (p.Asp368fs)	Pathogenic	criteria provided, single submitter	1
3703779	NM_000747.3(CHRNB1):c.270G>A (p.Trp90Ter)	Pathogenic	criteria provided, single submitter	1
4702847	NM_000747.3(CHRNB1):c.863del (p.Thr288fs)	Pathogenic	criteria provided, single submitter	1
661296	NM_000747.3(CHRNB1):c.354-1G>A	Likely pathogenic	criteria provided, single submitter	1
930319	NM_000747.3(CHRNB1):c.687_688insT (p.Gly230fs)	Likely pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore CHRNB1’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; 18 predictions of 939):

Position(s)	Effect	Δscore	Sites
17:7446966	donor_gain	1.0000
17:7447171	donor_gain	1.0000
17:7447175	donor_gain	1.0000
17:7447182	donor_gain	1.0000
17:7447651–7447652	donor_loss	1.0000	5
17:7448789–7448790	donor_loss	1.0000	4
17:7454295	acceptor_gain	1.0000
17:7455558	donor_gain	1.0000
17:7455570	donor_gain	1.0000
17:7455943	donor_loss	1.0000	2

AlphaMissense

1,193 missense substitutions predicted likely pathogenic (of 3,263 scored), across 299 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
D468	8	0.990	0.995
D161	8	0.989	0.995
D85	8	0.986	0.995
F267	8	0.977	0.998
F290	8	0.957	0.995
F169	8	0.956	0.996
F158	8	0.948	0.998
F160	8	0.935	0.990
N117	8	0.906	0.991
F475	8	0.878	0.984
N164	8	0.841	0.943
F314	8	0.840	0.965
F487	8	0.832	0.934
F350	8	0.827	0.932
D459	8	0.825	0.934
H340	8	0.774	0.887
C151	7	0.994	0.998
C165	7	0.994	0.998
W208	7	0.992	0.999
W109	7	0.991	0.998

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

1 prognostic cancer types:

Cancer	Prognostic	p-value
Pancreatic Adenocarcinoma (validation)	unfavorable	0.000206

Disease associations

OMIM: gene MIM:100710 | disease phenotypes: MIM:616313, MIM:616314

GenCC curated gene-disease

2 curated gene-disease records:

Disease	Classification	Inheritance	Records
congenital myasthenic syndrome 2C	Definitive	Autosomal dominant	5
congenital myasthenic syndrome 2A	Strong	Autosomal dominant	3

ClinGen Gene-Disease Validity

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

2 validity classifications:

Disease	Classification	Inheritance
congenital myasthenic syndrome 2A	Moderate	AD
congenital myasthenic syndrome 2C	Definitive	AR

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (7 panels, 7 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

7 panels:

Panel	Rating
Arthrogryposis	green
Congenital myaesthenic syndrome	green
DDG2P	green
Fetal anomalies	green
Hypotonic infant	green
Other rare neuromuscular disorders	green
Paediatric disorders	green

Mondo (2): congenital myasthenic syndrome 2A (MONDO:0014581), congenital myasthenic syndrome 2C (MONDO:0014582)

Orphanet (1): Congenital myasthenic syndrome (Orphanet:590)

HPO phenotypes

31 phenotypes (HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000218	High palate
HP:0000275	Narrow face
HP:0000276	Long face
HP:0000508	Ptosis
HP:0000602	Ophthalmoplegia
HP:0001252	Hypotonia
HP:0001319	Neonatal hypotonia
HP:0001324	Muscle weakness
HP:0001371	Flexion contracture
HP:0001620	Abnormally high-pitched voice
HP:0002033	Poor suck
HP:0002093	Respiratory insufficiency
HP:0002421	Poor head control
HP:0003198	Myopathy
HP:0003202	Skeletal muscle atrophy
HP:0003388	Easy fatigability
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003473	Fatigable weakness
HP:0003555	Muscle fiber splitting
HP:0003557	Increased variability in muscle fiber diameter
HP:0003577	Congenital onset
HP:0003690	Limb muscle weakness
HP:0003803	Type 1 muscle fiber predominance
HP:0006380	Knee flexion contracture
HP:0010628	Facial palsy
HP:0011968	Feeding difficulties
HP:0025336	Delayed ability to sit
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity
HP:0031936	Delayed ability to walk

GWAS associations

6 associations:

Study	Trait	p-value
GCST010002_171	Refractive error	3e-22
GCST010703_308	Brain morphology (MOSTest)	3e-9
GCST90020029_461	Waist circumference adjusted for body mass index	4e-9
GCST009325_83	Parkinson’s disease or first degree relation to individual with Parkinson’s disease	1e-8
GCST012226_660	Waist circumference adjusted for body mass index	3e-8
GCST009308_6	Emotional recognition	1e-6

EFO canonical traits (from GWAS)

3 canonical traits:

EFO ID	Trait name
EFO:0008354	cognitive function measurement
EFO:0004346	neuroimaging measurement
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (6): CHEMBL1907588 (PROTEIN COMPLEX), CHEMBL2111384 (PROTEIN COMPLEX GROUP), CHEMBL2362997 (PROTEIN COMPLEX GROUP), CHEMBL3885508 (PROTEIN COMPLEX), CHEMBL4106145 (PROTEIN COMPLEX), 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 CHRNB1 — 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)

PharmGKB variant annotations

Per-publication pharmacogenomic findings for this gene (significant associations).

1 published findings:

Variant	Drug(s)	Category	Finding	PMID
rs2302764	varenicline	Toxicity	Allele C is associated with increased severity of Nausea when treated with varenicline in people with Tobacco Use Disorder as compared to allele T.	PMID:21606948

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: lgic — Nicotinic acetylcholine receptors (nACh)

Binding affinities (BindingDB)

77 measured of 99 human assays (100 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
CHEMBL4098776	IC50	3.8 nM
(3-ENDO)-8-METHYL-8-AZABICYCLO[3.2.1]OCT-3-YL 1H-INDOLE-3-CARBOXYLATE	KI	5.3 nM
CHEMBL4095046	IC50	9 nM
(1R,9R)-7,11-diazatricyclo[7.3.1.02,7]trideca-2,4-dien-6-one	EC50	11 nM
CHEMBL3898922	IC50	15 nM
CHEMBL4074583	IC50	23 nM
CHEMBL4071859	IC50	23 nM
CHEMBL4084852	IC50	25 nM
CHEMBL4100355	IC50	27 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
CHEMBL4083246	IC50	29 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[7.3.1.02,7]trideca-2,4-diene iodide	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
CHEMBL4097654	IC50	100 nM
CHEMBL4089244	IC50	120 nM
CHEMBL4872191	IC50	131 nM
CHEMBL4075880	IC50	150 nM
CHEMBL4061082	IC50	150 nM
(2R,4S)-2-(6-Iodo-pyridin-3-yl)-7-aza-bicyclo[2.2.1]heptane	IC50	160 nM
CHEMBL4087500	IC50	170 nM
CHEMBL4102804	IC50	180 nM
N-[(3R)-1-azabicyclo[2.2.2]oct-3-yl]-1-benzothiophene-6-carboxamide	IC50	188 nM
CHEMBL4098850	IC50	190 nM
2-(tert-butylamino)-1-(3-chlorophenyl)propan-1-one	IC50	330 nM
CHEMBL4077222	IC50	350 nM
CHEMBL4064914	IC50	440 nM
CHEMBL3918431	IC50	480 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
CHEMBL4063152	IC50	1700 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
CHEMBL4101249	IC50	6700 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
CHEMBL4102566	IC50	9200 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
CHEMBL4079623	IC50	12000 nM
CHEMBL139085	IC50	12600 nM
CHEMBL137909	IC50	13200 nM
(2S,3S)-2-(3-Chlorophenyl)-3-ethyl-5,5-dimethylmorpholin-2-ol	IC50	14000 nM

ChEMBL bioactivities

115 potent at pChembl≥5 of 176 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
6.88	IC50	131	nM	CHEMBL4872191
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
6.16	IC50	690	nM	CHEMBL160950
6.10	IC50	790	nM	CHEMBL346301
6.10	IC50	800	nM	CHEMBL156204
6.10	IC50	790	nM	CHEMBL15998
6.05	IC50	890	nM	CHEMBL157250
5.99	Ki	1020	nM	CHEMBL1209070

PubChem BioAssay actives

115 with measured affinity, of 591 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,6R,9S,12S,15S,18S,21S,24S,27S,30R,33S,36S,42S,45S,50R)-50-[(2-aminoacetyl)amino]-15,21,27-tris(3-carbamimidamidopropyl)-45-(hydroxymethyl)-18,42-bis(1H-imidazol-5-ylmethyl)-12,24-dimethyl-9-(2-methylpropyl)-8,11,14,17,20,23,26,29,32,35,41,44,47,49-tetradecaoxo-33-propan-2-yl-3,4,52,53-tetrathia-7,10,13,16,19,22,25,28,31,34,40,43,46,48-tetradecazatricyclo[28.17.7.036,40]tetrapentacontane-6-carboxamide	1753063: Inhibition of human alpha1beta1deltaepsilon nAChR expressed in Xenopus laevis oocytes assessed as inhibition of acetylcholine-induced current response by two-electrode voltage-clamp method	ic50	0.1310	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
3-[[(2S)-1-methylpyrrolidin-2-yl]methoxy]-5-naphthalen-1-ylpyridine	145503: Antagonistic activity against neuronal nicotinic acetylcholine receptor (alpha3-betaX subunit) in IMR 32 cell line using 100 uM of (-)-nicotine as agonist	ic50	0.6900	uM
3-[[(2S)-1-methylpyrrolidin-2-yl]methoxy]-5-(2-phenylethynyl)pyridine	145503: Antagonistic activity against neuronal nicotinic acetylcholine receptor (alpha3-betaX subunit) in IMR 32 cell line using 100 uM of (-)-nicotine as agonist	ic50	0.7900	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
3-(4-methylphenyl)-5-[[(2S)-1-methylpyrrolidin-2-yl]methoxy]pyridine	145503: Antagonistic activity against neuronal nicotinic acetylcholine receptor (alpha3-betaX subunit) in IMR 32 cell line using 100 uM of (-)-nicotine as agonist	ic50	0.8000	uM
3-(2,4-dichlorophenyl)-5-[[(2S)-1-methylpyrrolidin-2-yl]methoxy]pyridine	145503: Antagonistic activity against neuronal nicotinic acetylcholine receptor (alpha3-betaX subunit) in IMR 32 cell line using 100 uM of (-)-nicotine as agonist	ic50	0.8900	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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	2
Acetylcholine	affects binding, increases activity	2
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	2
Particulate Matter	affects expression, increases methylation	2
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
gaboxadol	affects binding, affects cotreatment, increases activity	1
sulforaphane	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
entinostat	increases expression	1
abrine	decreases expression	1
jinfukang	increases expression	1
incobotulinumtoxinA	decreases expression	1
Sunitinib	decreases expression	1
Ethanol	decreases expression	1
Doxorubicin	decreases expression	1
gamma-Aminobutyric Acid	increases activity, affects binding, affects cotreatment	1
Muscimol	affects binding, affects cotreatment, increases activity	1
Niclosamide	increases expression	1
Oxygen	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Sarin	decreases expression	1
Vanadates	decreases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1
Acrylamide	increases expression	1

ChEMBL screening assays

87 unique, capped per target: 51 binding, 36 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*

Cellosaurus cell lines

2 cell lines: 2 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D1KE	PrecisION hnAChR alpha1/beta1/delta/epsilon-HEK	Transformed cell line	Female
CVCL_YA36	IDG-HEK293T-CHRNB1-V5-OE	Transformed cell line	Female

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

10 trials:

NCT	Phase	Status	Title
NCT00983788	Phase 2	COMPLETED	Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation Defects
NCT01886378	Phase 2	COMPLETED	A Study of UX007 (Triheptanoin) in Participants With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)
NCT02214160	Phase 2	COMPLETED	Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies
NCT01494051	Phase 1/2	COMPLETED	High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders
NCT05411835	Early Phase 1	COMPLETED	Oral Ketones and Exercise Among Patients With Long-chain Fatty Acid Oxidation Disorders
NCT02517307	Not specified	COMPLETED	Fatty Acid Oxidation Defects and Insulin Sensitivity
NCT02635269	Not specified	UNKNOWN	Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
NCT03531554	Not specified	COMPLETED	Acute Nutritional Ketosis in VLCAD Deficiency
NCT03655223	Not specified	ACTIVE_NOT_RECRUITING	Early Check: Expanded Screening in Newborns
NCT05910151	Not specified	UNKNOWN	Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for CHRNB1 across ~30M SureChEMBL compounds — explore on Sugi Predict.