CHRNB2

Summary

CHRNB2 (cholinergic receptor nicotinic beta 2 subunit, HGNC:1962) is a protein-coding gene on chromosome 1q21.3, encoding Neuronal acetylcholine receptor subunit beta-2 (P17787). Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits known to mediate syna….

Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy.

Source: NCBI Gene 1141 — RefSeq curated summary.

At a glance

• Gene–disease (curated): familial sleep-related hypermotor epilepsy (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 3
• Clinical variants (ClinVar): 704 total — 2 pathogenic, 3 likely-pathogenic (top 5% of genes corpus-wide)
• GTEx eGene: eQTL in 23 tissues, sQTL in 1 (q < 0.05)
• Phenotypes (HPO): 23
• Drug target: yes — 16 via a complex or family; 26 molecules with ChEMBL bioactivity (top 1% of genes corpus-wide)
• Approved drugs acting on a complex or family including it: 3 — Nicotine, Nicotine Polacrilex, Varenicline (Neuronal acetylcholine receptor; alpha4/beta2)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.12 (unconstrained)
• MANE Select transcript: NM_000748

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1962
Approved symbol	CHRNB2
Name	cholinergic receptor nicotinic beta 2 subunit
Location	1q21.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000160716
Ensembl biotype	protein_coding
OMIM	118507
Entrez	1141

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

MANE Select: ENST00000368476

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

ENST00000368476, ENST00000635876, ENST00000636034, ENST00000636695, ENST00000637900, ENST00001144948

RefSeq mRNA: 1 — MANE Select: NM_000748 NM_000748

CCDS: CCDS1070

Canonical transcript exons

ENST00000368476 — 6 exons

Exon	Start	End
ENSE00001053945	154569462	154569607
ENSE00001053946	154569792	154569836
ENSE00001053947	154571189	154572161
ENSE00001053948	154570258	154570367
ENSE00001447217	154575762	154580013
ENSE00001447218	154567778	154568108

Expression profiles

Bgee: expression breadth ubiquitous, 208 present calls, max score 94.34.

FANTOM5 (CAGE): breadth broad, TPM avg 2.6077 / max 112.4383, expressed in 240 samples.

Highest expression (Bgee): tongue squamous epithelium, cervix squamous epithelium, type B pancreatic cell, olfactory bulb, vena cava.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CHRNB2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 23 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 24 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Skin Sun Exposed Lower leg	eqtl	3.7e-28	+0.73	1:154565729:C:T
Esophagus Mucosa	eqtl	8.6e-17	+0.68	1:154565729:C:T
Whole Blood	eqtl	3.0e-13	+0.28	1:154581881:C:T
Brain Caudate basal ganglia	eqtl	7.5e-13	-0.23	1:154576470:C:T
Skin Not Sun Exposed Suprapubic	eqtl	1.7e-08	+0.47	1:154567992:C:T
Brain Putamen basal ganglia	eqtl	3.2e-06	-0.19	1:154578556:C:T
Testis	sqtl	5.7e-06	+0.53	1:154613536:C:T
Brain Anterior cingulate cortex BA24	eqtl	6.9e-06	-0.11	1:154605915:T:C
Brain Cortex	eqtl	1.2e-05	+0.11	1:154581546:C:T
Brain Hippocampus	eqtl	1.7e-04	-0.18	1:154576470:C:T
Brain Cerebellar Hemisphere	eqtl	1.8e-04	+0.60	1:154826793:G:C
Brain Nucleus accumbens basal ganglia	eqtl	2.3e-04	-0.18	1:154577586:GCA:G
Brain Cerebellum	eqtl	5.7e-04	-0.24	1:154586884:G:C
Brain Frontal Cortex BA9	eqtl	1.0e-03	-0.15	1:154578556:C:T
Nerve Tibial	eqtl	5.0e-03	+0.24	1:154593106:G:C
Lung	eqtl	9.8e-03	-0.23	1:154622902:T:TCA
Colon Transverse	eqtl	2.4e-02	+0.41	1:154639415:C:T
Brain Hypothalamus	eqtl	3.1e-02	-0.25	1:154330752:G:A
Thyroid	eqtl	3.4e-02	+0.57	1:155437292:G:A
Pancreas	eqtl	4.3e-02	+0.16	1:154677112:G:A

FANTOM5 promoters

4 alternative TSS:

Promoter ID	TPM avg	Samples expressed
5526	1.2671	218
5525	0.9423	146
5524	0.3770	114
5523	0.0214	6

Top tissues by expression

showing 100 of 248 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
tongue squamous epithelium	UBERON:0006919	94.34	silver quality
cervix squamous epithelium	UBERON:0006922	92.31	silver quality
type B pancreatic cell	CL:0000169	92.16	silver quality
olfactory bulb	UBERON:0002264	91.07	silver quality
vena cava	UBERON:0004087	89.75	silver quality
lateral nuclear group of thalamus	UBERON:0002736	89.74	gold quality
substantia nigra pars reticulata	UBERON:0001966	88.23	gold quality
lateral globus pallidus	UBERON:0002476	87.95	gold quality
subthalamic nucleus	UBERON:0001906	87.42	silver quality
cervix epithelium	UBERON:0004801	87.41	silver quality
pharyngeal mucosa	UBERON:0000355	87.14	silver quality
ventral tegmental area	UBERON:0002691	86.99	silver quality
body of tongue	UBERON:0011876	86.90	silver quality
substantia nigra pars compacta	UBERON:0001965	86.89	gold quality
cardia of stomach	UBERON:0001162	86.88	silver quality
periodontal ligament	UBERON:0008266	86.88	gold quality
upper arm skin	UBERON:0004263	86.80	silver quality
cortical plate	UBERON:0005343	86.75	gold quality
dorsal plus ventral thalamus	UBERON:0001897	86.56	gold quality
inferior vagus X ganglion	UBERON:0005363	86.56	silver quality
tongue	UBERON:0001723	86.53	silver quality
gluteal muscle	UBERON:0002000	86.51	silver quality
right frontal lobe	UBERON:0002810	86.45	gold quality
pylorus	UBERON:0001166	86.28	silver quality
gingival epithelium	UBERON:0001949	86.25	gold quality
buccal mucosa cell	CL:0002336	85.96	silver quality
pericardium	UBERON:0002407	85.86	silver quality
pons	UBERON:0000988	85.47	gold quality
prefrontal cortex	UBERON:0000451	85.43	gold quality
superior surface of tongue	UBERON:0007371	85.32	silver quality
renal medulla	UBERON:0000362	85.14	silver quality
nipple	UBERON:0002030	84.93	silver quality
saphenous vein	UBERON:0007318	84.89	silver quality
superior vestibular nucleus	UBERON:0007227	84.75	gold quality
Brodmann (1909) area 9	UBERON:0013540	84.73	gold quality
trachea	UBERON:0003126	84.65	silver quality
frontal cortex	UBERON:0001870	84.34	gold quality
diaphragm	UBERON:0001103	84.14	gold quality
hair follicle	UBERON:0002073	84.12	silver quality
heart right ventricle	UBERON:0002080	84.02	silver quality
neocortex	UBERON:0001950	83.78	gold quality
jejunum	UBERON:0002115	83.58	gold quality
trigeminal ganglion	UBERON:0001675	83.56	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	83.42	gold quality
synovial joint	UBERON:0002217	83.31	gold quality
medulla oblongata	UBERON:0001896	83.15	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	82.87	silver quality
cingulate cortex	UBERON:0003027	82.79	gold quality
tendon of biceps brachii	UBERON:0008188	82.76	silver quality
biceps brachii	UBERON:0001507	82.75	silver quality
cerebral cortex	UBERON:0000956	82.65	gold quality
nucleus accumbens	UBERON:0001882	82.64	gold quality
anterior cingulate cortex	UBERON:0009835	82.56	gold quality
squamous epithelium	UBERON:0006914	82.48	silver quality
mucosa of urinary bladder	UBERON:0001259	82.41	silver quality
gingiva	UBERON:0001828	82.41	gold quality
dorsal root ganglion	UBERON:0000044	82.26	silver quality
male germ cell	CL:0000015	82.09	silver quality
occipital lobe	UBERON:0002021	81.94	gold quality
telencephalon	UBERON:0001893	81.91	gold quality
ganglionic eminence	UBERON:0004023	81.80	gold quality
embryo	UBERON:0000922	81.78	gold quality
putamen	UBERON:0001874	81.61	gold quality
pancreatic ductal cell	CL:0002079	81.49	silver quality
endothelial cell	CL:0000115	81.48	silver quality
jejunal mucosa	UBERON:0000399	81.38	gold quality
thymus	UBERON:0002370	81.38	silver quality
urethra	UBERON:0000057	81.31	silver quality
sperm	CL:0000019	81.22	silver quality
penis	UBERON:0000989	81.20	gold quality
islet of Langerhans	UBERON:0000006	81.04	gold quality
forebrain	UBERON:0001890	81.00	gold quality
Brodmann (1909) area 46	UBERON:0006483	80.98	silver quality
right hemisphere of cerebellum	UBERON:0014890	80.91	gold quality
brain	UBERON:0000955	80.80	gold quality
primary visual cortex	UBERON:0002436	80.78	gold quality
layer of synovial tissue	UBERON:0007616	80.49	silver quality
superior frontal gyrus	UBERON:0002661	80.30	gold quality
caudate nucleus	UBERON:0001873	80.29	gold quality
entorhinal cortex	UBERON:0002728	80.28	gold quality
central nervous system	UBERON:0001017	80.19	gold quality
left ventricle myocardium	UBERON:0006566	80.12	gold quality
midbrain	UBERON:0001891	79.86	gold quality
hypothalamus	UBERON:0001898	79.72	gold quality
oocyte	CL:0000023	79.70	silver quality
cerebellum	UBERON:0002037	79.68	gold quality
cerebellar cortex	UBERON:0002129	79.59	gold quality
temporal lobe	UBERON:0001871	79.54	gold quality
cerebellar hemisphere	UBERON:0002245	79.54	gold quality
Ammon’s horn	UBERON:0001954	79.32	gold quality
cardiac muscle of right atrium	UBERON:0003379	79.29	gold quality
Brodmann (1909) area 23	UBERON:0013554	79.12	gold quality
substantia nigra	UBERON:0002038	79.10	gold quality
parietal lobe	UBERON:0001872	79.07	gold quality
cerebellar vermis	UBERON:0004720	78.89	silver quality
amygdala	UBERON:0001876	78.78	gold quality
middle temporal gyrus	UBERON:0002771	78.68	gold quality
globus pallidus	UBERON:0001875	78.29	silver quality
postcentral gyrus	UBERON:0002581	77.86	gold quality
bronchus	UBERON:0002185	77.82	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.61

HPA expression

RNA tissue specificity: Group enriched

50 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Postcentral gyrus	tissue	57.0
Thalamus	tissue	50.5
Pons	tissue	38.1
Hippocampal formation	tissue	34.9
Prefrontal cortex	tissue	33.3
Cerebral cortex	tissue	33.3
Somatosensory cortex	tissue	32.9
Midbrain	tissue	32.8
Entorhinal cortex	tissue	31.7
Occipital cortex	tissue	31.3
Hippocampus	tissue	30.6
Superior colliculi	tissue	30.2
Motor cortex	tissue	30.1
Retrosplenial and cingulate cortex	tissue	29.7
Temporal cortex	tissue	29.1
Insular cortex	tissue	28.8
Amygdala	tissue	27.8
Locus coeruleus	tissue	27.6
Retrosplenial cortex	tissue	26.4
Basal ganglia	tissue	25.3
Ventral forebrain	tissue	25.1
Hypothalamus	tissue	24.9
Septum	tissue	24.8
Nucleus accumbens	tissue	24.3
Substantia nigra	tissue	21.0
Putamen	tissue	17.7
Medulla oblongata	tissue	15.1
Periaqueductal gray	tissue	14.6
Olfactory bulb	tissue	13.5
Cerebellum	tissue	13.3
Spinal cord	tissue	11.2
Caudate putamen	tissue	7.8
Retina	tissue	7.7
Frontal cortex	tissue	6.7
Pituitary gland	tissue	3.4
Corpus callosum	tissue	2.8
Choroid plexus	tissue	2.3
Adrenal gland	tissue	1.0
Testis	tissue	0.5
Pancreas	tissue	0.5
Breast	tissue	0.4
Stomach 1	tissue	0.3
Skin 1	tissue	0.2
Duodenum	tissue	0.2
Esophagus	tissue	0.1
Rectum	tissue	0.1
Parathyroid gland	tissue	0.1
Colon	tissue	0.1
Small intestine	tissue	0.1
Appendix	tissue	0.1

Brain sub-regions (HPA Brain Atlas): detected in 188; highest nTPM — Precentral gyrus (50.2), Ventral posterolateral thalamic nucleus (44.5), Pulvinar (44.1), Lateral geniculate body (41.0), Ventral posteromedial thalamic nucleus (40.8).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): REST

miRNA regulators (miRDB)

Targeting CHRNB2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 119 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-3151-5P	99.86	63.83	1069

Functional genomics

gnomAD constraint: pLI 1.68e-09, LOEUF 1.12, missense Z 1.01 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000368476 splits into 2 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
1:154,568,045–154,571,818	333 / 452.6	0.74	no
1:154,571,819–154,575,929	270 / 248.3	1.09	no

Literature-anchored findings (GeneRIF, showing 40)

• Changes in nicotinic acetylcholine receptor subunits expression in brain of patients with Down syndrome and Alzheimer’s disease. (PMID:11771745)
• CHRNB2 is a logical candidate for influencing smoking behavior and nicotine dependence (PMID:11906688)
• autosomal dominant nocturnal frontal lobe epilepsy probands were analyzed for the presence of V287L and V287M mutations in the CHRNB2 gene. No mutations in the analyzed region of CHRNB2 found. (PMID:11952766)
• Mutations of the gene encoding CHRNB2 may be linked to nocturnal frontal lobe epilepsy. (PMID:12185808)
• CHRNB2 subunit is expressed in the soma of the majority of pyramidal cells, with the most beta 2 immunoreactivity observed in CA2-4 and entorhinal cortex and relatively less in CA1 and subicular pyramidal cell soma. (PMID:12663058)
• Mutations in genes coding for the alpha 4 and beta 2 subunits of the neuronal nicotinic acetylcholine receptor receptor (CHRN) are known to cause autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). (PMID:12681012)
• A significant association for Alzheimer’s disease is observed for a non-coding polymorphism in CHRNB2 subunit. (PMID:15026168)
• Nicotinic acetylcholine receptor beta 2 subunit polymorphisms are not a useful marker for prediction of the susceptibility.to febrile seizures. (PMID:15033200)
• Reduced gene expression of the alpha4beta2 nicotinic receptor in the cerebral cortex is a major feature of the neurochemical pathology of autism, whilst post-transcriptional abnormalities of both this and the alpha7 subtype are apparent in the cerebellum (PMID:15046869)
• A common haplotype of the nicotine acetylcholine receptor alpha 4 subunit gene is associated with vulnerability to nicotine addiction in men (PMID:15154117)
• alpha3beta2 nicotinic receptor has a role in regulating gene expression after tobacco exposure in oral epithelial cells (PMID:15681842)
• Here, we report a new CHRNB2 mutation located in transmembrane region 3 (M3), outside the known ADNFLE mutation cluster. The CHRNB2 mutation I312M, which occurred de novo in twins, markedly increases the receptor’s sensitivity to acetylcholine. (PMID:15964197)
• nicotinic modulation of thalamo-cortical circuitry as a key component in the control of conscious awareness in dementia with Lewy bodies (PMID:16023355)
• M1 domains on both alpha4 and beta2 play an important role for efficient expression of extracellular domain alpha4beta2 nAChRs that are high fidelity structural models of full-length alpha4beta2 nAChR (PMID:16174636)
• nicotine-induced up-regulation of alpha4beta2 acetylcholine receptors resulted primarily from an increase in assembly from large pools of unassembled subunits, but up-regulation also resulted from a 5-fold increase in the lifetime in the surface membrane (PMID:16183856)
• analysis of single channel conductance within the large cytoplasmic loop of 5-hydroxytryptamine type 3 and alpha4beta2 nicotinic acetylcholine receptors (PMID:16407231)
• Our present study provided the first line of direct evidence suggesting that the CHRNA4 gene combined with CHRNB2 receptor gene may be linked to schizophrenia. (PMID:16636791)
• Greater beta2*-nAChR availability during early abstinence may impact the ability of smokers to maintain abstinence. (PMID:16928859)
• This study provides the first evidence for association between the CHRNB2 gene and nicotine- and alcohol-related phenotypes, and suggests that polymorphisms in CHRNB2 may be important in mediating early responses to nicotine and alcohol. (PMID:17226798)
• To our knowledge, this is the third family reported presenting a mutation in CHRNB2 in nocturnal frontal lobe epilepsy. (PMID:17900292)
• results do not demonstrate a significant genetic difference in 7 markers from the CHRNA4 and CHRNB2 genes between schizophrenia patients who smoke and those who do not (PMID:18043764)
• These results in living human subjects corroborate postmortem reports of decline in high affinity nicotine binding with age and may aid in elucidating the role of beta(2)-nAChRs in cognitive aging. (PMID:18242781)
• Genetic testing revealed the CHRNB2 mutation I312M in transmembrane region 3 (M3) of the neuronal nicotinic acetylcholine receptor. (PMID:18534914)
• An SNP (rs2072661) in the 3’ UTR region of the CHRNB2 has an impact on abstinence rates at the end of treatment and after a 6-month follow-up period. (PMID:18593715)
• CHRNA4 and CHRNB2 do not play a major role in Japanese schizophrenia. (PMID:18762859)
• Results suggest that neither CHRNA4 nor CHRNB2 plays a major role in Japanese methamphetamine-use disorder. (PMID:18991851)
• Results report that overexpression of VILIP-1 enhances ACh responsiveness, whereas siRNA against VILIP-1 reduces alpha4beta2 nAChR currents of hippocampal neurons. (PMID:19063970)
• results indicate activation of protein kinase A & protein kinase C leads to phosphorylation of alpha4beta2 receptors at different stages of receptor formation & maturation & has different effects on expression & function of alpha4beta2 receptors (PMID:19101612)
• 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)
• There was no evidence of association of any of the SNPs in CHRNAB2 (rs2072661, rs4845378) or CHRNAB3 (rs4953, rs6474413) with smoking status (p=0.30) or, among daily smokers, of association with cotinine levels (p=0.08). (PMID:19482438)
• analysis of the agonist bindnig site of alpha4beta2 nicotinic acetylcholine receptors (PMID:19620239)
• association of a 3’ untranslated region polymorphism (rs2072661) in the nicotinic acetylcholine receptor beta2 subunit (CHRNB2) gene with quitting success in response to nicotine versus placebo patch during a short-term test of patch effects. (PMID:19755656)
• Data suggests that beta(2)*-nAChRs play a role in pain sensitivity but not pain tolerance during tobacco smoking withdrawal. (PMID:20371741)
• Using high-resolution NMR spectroscopy, we solved the structure of the entire transmembrane domain (TM1234) of the beta2 subunit. We found that TM1234 formed a four-helix bundle in the absence of the extracellular and intracellular domains. (PMID:20441771)
• A novel mutant mouse harboring the human ADNFLE mutation in the Chrnb2 gene was generated and used to study the roles of beta2* nicotinic receptors in complex biological processes including the activity-rest cycle, natural reward and anxiety. (PMID:20603624)
• Used analysis of non-stationary noise to estimate the maximal probability the nicotinic alpha4beta2 receptor is open. (PMID:20649589)
• variation in the promoter region of CHRNB2 gene may be important in mediating levels of expression of the beta2 nicotinic receptor subunit, which may be associated with variation in subjective response to nicotine (PMID:20854418)
• The high sensitivity to activation and desensitization of (alpha4beta2)alpha5 nAChRbeta2 by nicotine results in a narrow concentration range in which activation and desensitization curves overlap. (PMID:20881005)
• Concatameric pentamers and pentamers formed from combinations of trimers, dimers, and monomers of alpha6beta2beta3* acetylcholine receptors exhibit similar properties, indicating that the linkers between subunits do not alter their functional properties. (PMID:20923852)
• A signaling cascade involving Janus kinase-2 and signal transducer and activator of transcription 3 mediates anti-inflammatory effects through alpha4beta2 nicotinic receptors. (PMID:20943775)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	chrnb2	ENSDARG00000017790
mus_musculus	Chrnb2	ENSMUSG00000027950
rattus_norvegicus	Chrnb2	ENSRNOG00000020778

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), 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), CHRNG (ENSG00000196811), GABRQ (ENSG00000268089)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:87891) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 47 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal brain morphology	2
abnormal lateral geniculate nucleus morphology	2
abnormal behavior	2
decreased B cell number	2
abnormal nicotine-mediated receptor currents	2
enlarged heart	1
abnormal superior colliculus morphology	1
persistence of hyaloid vascular system	1
abnormal social investigation	1
decreased anxiety-related response	1
hyperactivity	1
abnormal response to new environment	1
abnormal immune system physiology	1
apnea	1
decreased chemically-elicited antinociception	1
abnormal associative learning	1
seizures	1
premature death	1
abnormal nervous system electrophysiology	1
abnormal tidal volume	1
abnormal pulmonary ventilation	1
decreased immunoglobulin level	1
abnormal immunoglobulin level	1
increased IgG level	1
abnormal epididymis morphology	1

+22 more (showing top 25).

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
Naja naja	P14143	98.1%	Diamond
Natrix tessellata	P14144	98.1%	Diamond
Felis catus	P54250	97.6%	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
Erinaceus concolor	P54249	94.0%	Diamond
Gallus gallus	P22770	91.7%	Diamond
Herpestes ichneumon	P54251	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
TDRD10	protein-coding	126668
SHE	protein-coding	126669
IL6R	protein-coding	3570
UBE2Q1	protein-coding	55585
KCNN3	protein-coding	3782
UBE2Q1-AS1	ncRNA	100874097
ADAR	protein-coding	103

Protein

Protein identifiers

Neuronal acetylcholine receptor subunit beta-2 — P17787 (reviewed: P17787)

All UniProt accessions (4): A0A1B0GTH5, A0A1B0GVD7, P17787, Q5SXY3

UniProt curated annotations — full annotation on UniProt →

Function. Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits known to mediate synaptic transmission in the nervous system and the neuromuscular junction. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, cation permeability, and binding to allosteric modulators. CHRNB2 forms heteropentameric neuronal acetylcholine receptors with CHRNA2, CHRNA3, CHRNA4 and CHRNA6, as well as CHRNA5 and CHRNB3 as accesory subunits. Found in two major stoichiometric forms,(CHRNA4)3:(CHRNB2)2 and (CHRNA4)2:(CHRNB2)3, the two stoichiometric forms differ in their unitary conductance, calcium permeability, ACh sensitivity and potentiation by divalent cation. Heteropentameric channels with CHRNA6 and CHRNA4 exhibit high sensitivity to ACh and nicotine and are predominantly expressed in only a few brain areas, including dopaminergic neurons, norepirephrine neurons and cells of the visual system. nAChrs containing CHRNA6 subunits mediate endogenous cholinergic modulation of dopamine and gamma-aminobutyric acid (GABA) release in response to nicotine at nerve terminals. Also forms functional nAChRs with other subunits such as CHRNA7:CHRNB2, mainly expressed in basal forebrain cholinergic neurons.

Subunit / interactions. Neuronal AChR is a heteropentamer composed of two different types of subunits: alpha and beta. CHRNB2/Beta-2 subunit can be combined to CHRNA2/alpha-2, CHRNA3/alpha-3 or CHRNA4/alpha-4, CHRNA5/alpha-5, CHRNA6/alpha-6 and CHRNB3/beta-3 to give rise to functional receptors. CHRNA2:CHRNB2 and CHRNA4:CHRNB2 nAChR complexes exist in two subtypes: LS (low agonist sensitivity) with a (CHRNA2/4)3:(CHRNB2)2 and HS (high agonist sensitivity) with a (CHRNA2/4)2:(CHRNB2)3 stoichiometry; the subtypes differ in their subunit binding interfaces which are involved in ligand binding. Cells produce predominantly an (CHRNA4)3:(CHRNB2)2 nAChR. The stoichiometric form (CHRNA4)2:(CHRNB2)3 expression is selectively up-regulated by nicotine and has lower single channel conductance and calcium permeability. Also part of the stoichiometric forms: (CHRNA4:CHRNB2)2:CHRNB3 or (CHRNA6:CHRNB2)2:CHRNB3. Can form heteropentamers with CHRNA7, mainly found in basal forebrain cholinergic neurons. Interacts with RIC3; which is required for proper folding and assembly. Interacts with LYPD6.

Subcellular location. Synaptic cell membrane. Cell membrane.

Disease relevance. Epilepsy, nocturnal frontal lobe, 3 (ENFL3) [MIM:605375] An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Activated by a myriad of ligands such as acetylcholine, cytisine, nicotine, choline and epibatidine. Channel potentiation by calcium is stoichiometry-selective, CHRNA4:CHRNB2 nACh receptor is achieved by calcium association with topographically distinct sites framed by anionic residues within the CHRNA4 subunit and between the CHRNA4 and CHRNB2 subunits. Oligomeric amyloid-beta protein 42 activates specifially CHRNA7:CHRNB2 nAchRs. nAChR activity is inhibited by the antagonist alpha-conotoxins BuIA, PnIA, PnIC, GID and MII, small disulfide-constrained peptides from cone snails.

Similarity. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta-2/CHRNB2 sub-subfamily.

RefSeq proteins (1): NP_000739* (*=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)
• Ca(2+)(in) = Ca(2+)(out) (RHEA:29671)
• Na(+)(in) = Na(+)(out) (RHEA:34963)

UniProt features (68 total): helix 16, strand 15, mutagenesis site 7, turn 7, topological domain 4, transmembrane region 4, site 3, glycosylation site 3, sequence variant 3, sequence conflict 3, signal peptide 1, chain 1, disulfide bond 1

Structure

Experimental structures (PDB)

15 structures by resolution:

PDB	Title	Method	Resolution (Å)
8ST4	The 2alpha3beta stoichiometry of human alpha4beta2 nicotinic acetylcholine receptor in …	ELECTRON MICROSCOPY	2.35
8ST0	The 2alpha3beta stoichiometry of full-length human alpha4beta2 nicotinic acetylcholine …	ELECTRON MICROSCOPY	2.4
8SSZ	The 2alpha3beta stoichiometry of full-length human alpha4beta2 nicotinic acetylcholine …	ELECTRON MICROSCOPY	2.64
8ST3	The 2alpha3beta stoichiometry of human alpha4beta2 nicotinic acetylcholine receptor in …	ELECTRON MICROSCOPY	2.93
8ST2	The 3alpha2beta stoichiometry of human alpha4beta2 nicotinic acetylcholine receptor in …	ELECTRON MICROSCOPY	2.94
8ST1	The 3alpha2beta stoichiometry of human alpha4beta2 nicotinic acetylcholine receptor in …	ELECTRON MICROSCOPY	3.41
6CNJ	Structure of the 2alpha3beta stiochiometry of the human Alpha4Beta2 nicotinic receptor	ELECTRON MICROSCOPY	3.7
6UR8	CryoEM structure of human alpha4beta2 nicotinic acetylcholine receptor in complex with …	ELECTRON MICROSCOPY	3.71
6USF	CryoEM structure of human alpha4beta2 nicotinic acetylcholine receptor with varenicline …	ELECTRON MICROSCOPY	3.87
6CNK	Structure of the 3alpha2beta stiochiometry of the human Alpha4Beta2 nicotinic receptor	ELECTRON MICROSCOPY	3.9
5KXI	X-ray structure of the human Alpha4Beta2 nicotinic receptor	X-RAY DIFFRACTION	3.94
2K58	NMR structures of the first transmembrane domain of the neuronal acetylcholine receptor …	SOLUTION NMR
2K59	NMR structures of the second transmembrane domain of the neuronal acetylcholine receptor …	SOLUTION NMR
2KSR	NMR structures of TM domain of the n-Acetylcholine receptor b2 subunit	SOLUTION NMR
2LM2	NMR structures of the transmembrane domains of the AChR b2 subunit	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P17787-F1	81.16	0.51

Antibody-complex structures (SAbDab)

9 antibodies co-crystallized with this protein: 6CNJ, 6CNK, 6USF, 8SSZ, 8ST0, 8ST1, 8ST2, 8ST3, 8ST4

Human Protein Atlas

Protein class: Transporters, Transporter channels and pores, Predicted membrane proteins, Disease related genes, FDA approved drug targets, Small molecule drugs, Human disease related genes, Epilepsy

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.

Catalytic / active sites (3)

Position	Role
84	key residue that may interfere with effective access of the conotoxin buia to the channel binding site
136	key residue for a rapid dissociation (k(off)) from the conotoxin buia
144	key residue for a rapid dissociation (k(off)) from the conotoxin buia

Disulfide bonds (1)

Type	Positions
Disulfide bond	155–169

Glycosylation sites (3)

Type	Positions
N-linked (glcnac…) asparagine	51, 168, 485

Mutagenesis-validated functional residues (7)

Position	Phenotype
72	reduces chrna4:chrnb2 channel opening potentiation by divalent cations.
74	reduces chrna4:chrnb2 channel opening potentiation by divalent cations.
196	loss of chrna4:chrnb2 channel opening potentiation by divalent cations.
197	increases ligand activation in ls and hs nachr subtypes.
202	reduces chrna4:chrnb2 channel opening potentiation by divalent cations.
218	reduces chrna4:chrnb2 channel opening potentiation by divalent cations.
285	increases ca(2+) permeability.

Function

Pathways and Gene Ontology

Reactome pathways

3 curated (TAS) of 9; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

9 pathways:

ID	Pathway	Evidence
R-HSA-629597	Highly calcium permeable nicotinic acetylcholine receptors	curated
R-HSA-629594	Highly calcium permeable postsynaptic nicotinic acetylcholine receptors	curated
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: 325 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, GOBP_CIRCADIAN_RHYTHM, GOBP_DENDRITE_DEVELOPMENT, GOBP_MEMORY, GOBP_REGULATION_OF_CELL_ACTIVATION, RNGTGGGC_UNKNOWN, GOBP_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_EXCRETION, GOBP_MEMBRANE_DEPOLARIZATION, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_RESPONSE_TO_ETHANOL, GOBP_COGNITION, MODULE_274, GOBP_BEHAVIOR

GO Biological Process (43): response to hypoxia (GO:0001666), monoatomic ion transport (GO:0006811), calcium ion transport (GO:0006816), smooth muscle contraction (GO:0006939), signal transduction (GO:0007165), chemical synaptic transmission (GO:0007268), synaptic transmission, cholinergic (GO:0007271), visual perception (GO:0007601), sensory perception of sound (GO:0007605), learning (GO:0007612), memory (GO:0007613), locomotory behavior (GO:0007626), associative learning (GO:0008306), visual learning (GO:0008542), regulation of dopamine secretion (GO:0014059), sensory perception of pain (GO:0019233), vestibulocochlear nerve development (GO:0021562), optic nerve morphogenesis (GO:0021631), lateral geniculate nucleus development (GO:0021771), central nervous system projection neuron axonogenesis (GO:0021952), positive regulation of B cell proliferation (GO:0030890), regulation of synaptic transmission, dopaminergic (GO:0032225), positive regulation of dopamine secretion (GO:0033603), monoatomic ion transmembrane transport (GO:0034220), response to nicotine (GO:0035094), behavioral response to nicotine (GO:0035095), social behavior (GO:0035176), regulation of dopamine metabolic process (GO:0042053), B cell activation (GO:0042113), response to cocaine (GO:0042220), regulation of circadian sleep/wake cycle, REM sleep (GO:0042320), response to ethanol (GO:0045471), negative regulation of action potential (GO:0045759), regulation of dendrite morphogenesis (GO:0048814), nervous system process (GO:0050877), cognition (GO:0050890), membrane depolarization (GO:0051899), regulation of synapse assembly (GO:0051963), synaptic transmission involved in micturition (GO:0060084), acetylcholine receptor signaling pathway (GO:0095500), response to acetylcholine (GO:1905144), regulation of postsynaptic membrane potential (GO:0060078), excitatory postsynaptic potential (GO:0060079)

GO Molecular Function (8): ligand-gated monoatomic ion channel activity (GO:0015276), acetylcholine receptor activity (GO:0015464), acetylcholine-gated monoatomic cation-selective channel activity (GO:0022848), acetylcholine binding (GO:0042166), 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 (11): plasma membrane (GO:0005886), acetylcholine-gated channel complex (GO:0005892), external side of plasma membrane (GO:0009897), membrane (GO:0016020), presynaptic membrane (GO:0042734), neuron projection (GO:0043005), plasma membrane raft (GO:0044853), synapse (GO:0045202), postsynaptic membrane (GO:0045211), neurotransmitter receptor complex (GO:0098878), synaptic membrane (GO:0097060)

Reactome top-level categories

6 top-level categories:

Category	Pathways
Presynaptic nicotinic acetylcholine receptors	2
Postsynaptic nicotinic acetylcholine receptors	2
Acetylcholine binding and downstream events	2
Transmission across Chemical Synapses	1
Neuronal System	1
Neurotransmitter receptors and postsynaptic signal transmission	1

GO top-level categories

59 GO namespaces:

Category	Terms
learning or memory	2
postsynaptic neurotransmitter receptor activity	2
plasma membrane signaling receptor complex	2
plasma membrane	2
synaptic membrane	2
plasma membrane region	2
response to stress	1
response to decreased oxygen levels	1
transport	1
metal ion transport	1
muscle contraction	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
anterograde trans-synaptic signaling	1
chemical synaptic transmission	1
sensory perception of light stimulus	1
sensory perception of mechanical stimulus	1
behavior	1
learning	1
visual behavior	1
associative learning	1
dopamine secretion	1
regulation of catecholamine secretion	1
sensory perception	1
cranial nerve development	1
optic nerve development	1
cranial nerve morphogenesis	1
thalamus development	1
neural nucleus development	1
central nervous system neuron axonogenesis	1
monoatomic ion channel activity	1
ligand-gated channel 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
cation binding	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
cell surface	1
side of membrane	1
cellular anatomical structure	1
presynapse	1
plasma membrane bounded cell projection	1
membrane raft	1
cell junction	1
postsynapse	1
synapse	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 16 of 62 annotations. The rest are phylogenetic / computational / electronic (IEA).

16 experimentally-supported GO terms:

GO term	NS	Evidence
acetylcholine receptor signaling pathway	BP	direct assay
behavioral response to nicotine	BP	mutant phenotype
cognition	BP	mutant phenotype
learning	BP	mutant phenotype
memory	BP	mutant phenotype
nervous system process	BP	mutant phenotype
response to hypoxia	BP	direct assay
response to nicotine	BP	direct assay
signal transduction	BP	direct assay
synaptic transmission, cholinergic	BP	direct assay
visual learning	BP	mutant phenotype
acetylcholine-gated channel complex	CC	direct assay
synapse	CC	direct assay
acetylcholine binding	MF	mutant phenotype
acetylcholine receptor activity	MF	direct assay
acetylcholine-gated monoatomic cation-selective channel activity	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 922 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CHRNB2	GABBR2	O75899	658
CHRNB2	IGBP1	P78318	646
CHRNB2	SLC17A6	Q9P2U8	641
CHRNB2	KCNT1	Q5JUK3	637
CHRNB2	DRD2	P14416	616
CHRNB2	SLC6A3	Q01959	602
CHRNB2	CHRM5	P08912	578
CHRNB2	PURA	Q00577	570
CHRNB2	ACHE	P22303	564
CHRNB2	DRD1	P21728	562
CHRNB2	LYNX1	P0DP58	561
CHRNB2	HTR2A	P28223	551
CHRNB2	DEPDC5	O75140	550
CHRNB2	CHRM4	P08173	550
CHRNB2	CHRM2	P08172	549

IntAct

Human interaction partners of CHRNB2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

7 partners by confidence:

Partner	Interaction type	MIscore	Records
CHRNA5	physical association	0.660	3
CHRNA4	physical association	0.490	5
CRELD2	physical association	0.440	2
LYNX1	association	0.350	2
LYPD6	association	0.350	1
SNX2	association	0.350	1
TMEM131L	association	0.350	1

BioGRID (105 interactions; top human partners by supporting records): CHRNA3 (Affinity Capture-Western; 3 records), CHRNA4 (Affinity Capture-Western; 2 records), P2RX2 (Affinity Capture-Western; 2 records), ABCA3 (Affinity Capture-MS), ABCC10 (Affinity Capture-MS), ABHD14A (Affinity Capture-MS), ADCY6 (Affinity Capture-MS), ALG9 (Affinity Capture-MS), ANO6 (Affinity Capture-MS), ASPHD2 (Affinity Capture-MS), ATP6AP2 (Affinity Capture-MS), B4GALT1 (Affinity Capture-MS), B4GALT7 (Affinity Capture-MS), BET1 (Affinity Capture-MS), BNIP1 (Affinity Capture-MS)

SIGNOR signaling

5 signaling interactions:

A	Effect	B	Mechanism
CHRNB2	“form complex”	“Neuronal nicotinic acetylcholine receptor complex, 3xalpha4-2xbeta2”	binding
CHRNB2	“form complex”	“Neuronal nicotinic acetylcholine receptor complex, alpha3-alpha5-beta2”	binding
CHRNB2	“form complex”	“Neuronal nicotinic acetylcholine receptor complex, alpha4-alpha5-beta2”	binding
CHRNB2	“form complex”	“Neuronal nicotinic acetylcholine receptor complex, alpha7-beta2”	binding
CHRNB2	“form complex”	“Neuronal nicotinic acetylcholine receptor complex, alpha3-alpha6-beta2-beta3”	binding

Protein complexes (CORUM) (4)

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

4 complexes by size:

Complex	Subunits	Members
★ CHRNA3-CHRNA5-CHRNB2 complex	3	CHRNA5, CHRNB2, CHRNA3
★ VILIP-1-AChR-alpha-4-AChR-beta-2 complex	3	CHRNA4, CHRNB2, VSNL1
★ CHRNA3-CHRNB2 complex	2	CHRNA3, CHRNB2
★ CHRNA4-CHRNB2 complex	2	CHRNA4, CHRNB2

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
CHRNA3;CHRNB2;CHRNA5		Signaling by Acetylcholine
CHRNA4;CHRNB2		Signaling by Acetylcholine

Disease & clinical

Genetic variants

Variant evidence for CHRNB2: 704 ClinVar records (5 pathogenic / likely pathogenic); 3 PharmGKB clinical annotations; 3 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	3
Uncertain significance	384
Likely benign	246
Benign	17

Top pathogenic / likely-pathogenic (5)

Showing all 5 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
17496	NM_000748.3(CHRNB2):c.859G>A (p.Val287Met)	Pathogenic	criteria provided, multiple submitters, no conflicts	6
17495	NM_000748.3(CHRNB2):c.859G>C (p.Val287Leu)	Pathogenic	criteria provided, multiple submitters, no conflicts	3
1030889	NM_000748.3(CHRNB2):c.845T>A (p.Leu282His)	Likely pathogenic	criteria provided, single submitter	1
3061958	NM_000748.3(CHRNB2):c.256-1G>A	Likely pathogenic	criteria provided, single submitter	1
3391473	NM_000748.3(CHRNB2):c.1010T>G (p.Val337Gly)	Likely pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore CHRNB2’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; 26 predictions of 525):

Position(s)	Effect	Δscore	Sites
1:154568109–154568110	donor_loss	1.0000	3
1:154569455	acceptor_gain	1.0000
1:154569460–154569461	acceptor_loss	1.0000	4
1:154569461	acceptor_gain	1.0000
1:154569608–154569609	donor_loss	1.0000	5
1:154570250	acceptor_gain	1.0000
1:154570256–154570257	acceptor_loss	1.0000	4
1:154570368–154570369	donor_loss	1.0000	5
1:154571187	acceptor_loss	1.0000
1:154568109	donor_loss	0.9900

AlphaMissense

1,634 missense substitutions predicted likely pathogenic (of 3,287 scored), across 333 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
M305	9	0.915	0.998
D89	8	0.998	1.000
D165	8	0.998	0.999
D459	8	0.997	0.999
D116	8	0.991	0.999
F256	8	0.991	1.000
F279	8	0.990	1.000
F162	8	0.988	1.000
F173	8	0.986	1.000
H329	8	0.977	0.990
F236	8	0.976	1.000
D223	8	0.975	0.992
D124	8	0.963	0.993
F466	8	0.961	0.996
F303	8	0.956	0.992
F164	8	0.955	0.998
N121	8	0.944	0.999
F339	8	0.944	0.986
S153	8	0.943	1.000
H322	8	0.943	0.997

HPA cancer prognostics

RNA cancer specificity: Cancer enhanced (Glioblastoma Multiforme)

Disease associations

OMIM: gene MIM:118507 | disease phenotypes: MIM:605375, MIM:600513

GenCC curated gene-disease

2 curated gene-disease records:

Disease	Classification	Inheritance	Records
autosomal dominant nocturnal frontal lobe epilepsy 3	Strong	Autosomal dominant	2
autosomal dominant nocturnal frontal lobe epilepsy	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity

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

1 validity classifications:

Disease	Classification	Inheritance
familial sleep-related hypermotor epilepsy	Definitive	AD

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (5 panels, 4 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

5 panels:

Panel	Rating
DDG2P	green
Early onset or syndromic epilepsy	green
Paediatric disorders	green
Unexplained death in infancy and sudden unexplained death in childhood	green
Fetal anomalies	amber

Mondo (4): autosomal dominant nocturnal frontal lobe epilepsy 3 (MONDO:0011545), familial sleep-related hypermotor epilepsy (MONDO:0000030), autosomal dominant nocturnal frontal lobe epilepsy 1 (MONDO:0010899), (MONDO:0020300)

Orphanet (1): Sleep-related hypermotor epilepsy (Orphanet:98784)

HPO phenotypes

23 phenotypes (HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000020	Urinary incontinence
HP:0000708	Atypical behavior
HP:0000716	Depression
HP:0000733	Motor stereotypy
HP:0000739	Anxiety
HP:0001250	Seizure
HP:0001256	Mild intellectual disability
HP:0001345	Psychotic mentation
HP:0002069	Bilateral tonic-clonic seizure
HP:0002268	Paroxysmal dystonia
HP:0002883	Hyperventilation
HP:0004305	Involuntary movements
HP:0007018	Attention deficit hyperactivity disorder
HP:0011174	Focal hyperkinetic seizure
HP:0011182	Interictal epileptiform activity
HP:0011193	EEG with focal spikes
HP:0025235	NREM parasomnia
HP:0025236	Sleep walking
HP:0031535	Increased theta frequency activity in EEG
HP:0031589	Suicidal ideation
HP:0031951	Nocturnal seizures
HP:0100543	Cognitive impairment

GWAS associations

3 associations:

Study	Trait	p-value
GCST008809_1	Smoking behaviour (cigarettes smoked per day)	4e-8
GCST012497_2	Lung function (FEV1)	4e-7
GCST004294_8	Nicotine dependence	4e-6

EFO canonical traits (from GWAS)

2 canonical traits:

EFO ID	Trait name
EFO:0006525	cigarettes per day measurement
EFO:0004314	forced expiratory volume

MeSH disease descriptors

3 disease descriptors:

Descriptor	Name	Tree numbers
C579932	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy *(supp.)*
C563930	Epilepsy, Nocturnal Frontal Lobe, Type 1 *(supp.)*
C565334	Epilepsy, Nocturnal Frontal Lobe, Type 3 *(supp.)*

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (14): CHEMBL1883 (SINGLE PROTEIN), CHEMBL1907589 (PROTEIN COMPLEX), CHEMBL2109233 (PROTEIN COMPLEX), CHEMBL2109234 (PROTEIN COMPLEX), CHEMBL2109236 (PROTEIN COMPLEX), CHEMBL2109237 (PROTEIN COMPLEX), CHEMBL2111384 (PROTEIN COMPLEX GROUP), CHEMBL2221346 (PROTEIN COMPLEX GROUP), CHEMBL3038458 (PROTEIN COMPLEX), CHEMBL3038461 (PROTEIN COMPLEX)

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 CHRNB2 — the drug acts on the assembly or class, not necessarily on this subunit alone.

16 drugs via a complex or family:

Drug	Target (ChEMBL)	Members	Max phase
NICOTINE	Neuronal acetylcholine receptor; alpha4/beta2	2	4
NICOTINE POLACRILEX	Neuronal acetylcholine receptor; alpha4/beta2	2	4
VARENICLINE	Neuronal acetylcholine receptor; alpha4/beta2	2	4
CYTISINICLINE	Neuronal acetylcholine receptor; alpha4/beta2	2	3
DEXMECAMYLAMINE	Neuronal acetylcholine receptor; alpha4/beta2	2	3
DIANICLINE	Neuronal acetylcholine receptor; alpha4/beta2	2	3
ALTINICLINE	Neuronal acetylcholine receptor; alpha4/beta2	2	2
AZD1446	Neuronal acetylcholine receptor; alpha4/beta2	2	2
CP-601927	Neuronal acetylcholine receptor; alpha4/beta2	2	2
ISPRONICLINE	Neuronal acetylcholine receptor; alpha4/beta2	2	2
POZANICLINE	Neuronal acetylcholine receptor; alpha6/beta2	2	2
SIMPINICLINE	Neuronal acetylcholine receptor; alpha4/beta2	2	2
SOFINICLINE	Neuronal acetylcholine receptor; alpha4/beta2	2	2
TEBANICLINE TOSYLATE	Neuronal acetylcholine receptor; alpha4/beta2	2	2
TC-2216	Neuronal acetylcholine receptor; alpha4/beta2	2	1
ABT-560	Neuronal acetylcholine receptor; alpha4/beta2	2	—

Molecules with ChEMBL bioactivity

Phase ≥1, by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 454,140 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

26 molecules by phase:

Molecule	Name	Phase	Patents
CHEMBL667	ACETYLCHOLINE	4	125,294
CHEMBL894	BUPROPION	4	37,410
CHEMBL965	CARBAMOYLCHOLINE	4	22,707
CHEMBL289469	GRANISETRON	4	439
CHEMBL267936	MECAMYLAMINE	4	5,654
CHEMBL3	NICOTINE	4	187,543
CHEMBL46	ONDANSETRON	4	41,818
CHEMBL56564	TROPISETRON	4	19,468
CHEMBL1076903	VARENICLINE	4	5,898
CHEMBL497939	CYTISINICLINE	3	2,806
CHEMBL2103881	DEXMECAMYLAMINE	3	19
CHEMBL111659	ALTINICLINE	2	129
CHEMBL2151437	AZD0328	2	169
CHEMBL2179529	AZD1446	2	81
CHEMBL1258006	BRADANICLINE	2	209
CHEMBL134713	GTS-21	2	275
CHEMBL188462	ISPRONICLINE	2	484
CHEMBL122270	LOBELINE	2	2,282
CHEMBL127071	POZANICLINE	2	370
CHEMBL1172928	RADAFAXINE	2	1,085
CHEMBL132966	RIVANICLINE	2
CHEMBL238465	SOFINICLINE	2
CHEMBL1257065	STILONIUM IODIDE	2
CHEMBL430497	TEBANICLINE	2
CHEMBL6200	NORNICOTINE	1
CHEMBL504652	TC-2216	1

PharmGKB: 1 entry (CPIC guideline: no)

PharmGKB clinical annotations

3 annotations by evidence level (1 strongest → 4):

Variant	Association	Level	Drugs	Phenotypes
rs2072658	Other	3	nicotine	Tobacco Use Disorder
rs2072660	Toxicity	3	nicotine	Tobacco Use Disorder
rs2072661	Efficacy,Toxicity	3	nicotine	Tobacco Use Disorder

PharmGKB variants

3 variants:

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2072658	CHRNB2	3	1.25	1	nicotine
rs2072660	CHRNB2	3	1.75	1	nicotine
rs2072661	CHRNB2	3	3.00	1	nicotine

PharmGKB variant annotations

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

8 published findings:

Variant	Drug(s)	Category	Finding	PMID
rs2072661			Genotype GG is associated with increased likelihood of smoking cessation as compared to genotypes AA + AG.	PMID:18593715
rs2072660	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
rs2072661	varenicline	Toxicity	Allele A is associated with increased severity of Nausea when treated with varenicline in people with Tobacco Use Disorder as compared to allele G.	PMID:21606948
rs4292956	varenicline	Toxicity	Allele T is associated with increased severity of Nausea when treated with varenicline in people with Tobacco Use Disorder as compared to allele C.	PMID:21606948
rs2072658	nicotine	Other	Genotype AG is associated with increased response to nicotine in people with daily smoking as compared to genotype GG.	PMID:20854418
rs2072660	nicotine	Other	Allele T is associated with increased severity of Tobacco Use Disorder due to nicotine in smokers as compared to allele C.	PMID:20736995
rs2072661	nicotine	Other	Allele A is associated with increased severity of Tobacco Use Disorder due to nicotine in smokers as compared to allele G.	PMID:20736995
rs2072661	nicotine	Efficacy, Toxicity, Other	Genotype GG is associated with increased abstinence due to nicotine in smokers as compared to genotypes AA + AG.	PMID:19755656

GtoPdb / IUPHAR curated pharmacology

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

Target class: lgic — Nicotinic acetylcholine receptors (nACh)

Binding affinities (BindingDB)

1097 measured of 1322 human assays (1417 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
CHEMBL4168511	KI	0.02 nM
azidoepibatidine	KI	0.027 nM
2-(8-Bromo-2,3,6,7-tetrahydro-benzo[1,2-b;4,5-b’]difuran-4-yl)-ethylamine	EC50	0.029 nM
2-(6-Chloro-pyridin-3-yl)-7-methyl-7-aza-bicyclo[2.2.1]heptane	KI	0.038 nM
2-(6-Chloro-pyridin-3-yl)-9-aza-bicyclo[4.2.1]non-2-ene(+/-)-UB-165	KI	0.04 nM
(S)-2-(6-Chloro-pyridin-3-yl)-7-aza-bicyclo[2.2.1]heptane	KI	0.05 nM
syn-7-(6-chloro-pyridin-3-yl)-2-azabicyclo[2.2.1]heptane	KI	0.0785 nM
5-[5-(azetidin-2-ylmethoxy)-6-methyl-3-pyridinyl]pent-4-yn-1-ol	KI	0.087 nM	US-9993465: 2,5-disubstituted-pyridyl nicotinic ligands, and methods of use thereof
6-methyl-5,7,13-triazatetracyclo[9.3.1.02,10.04,8]pentadeca-2(10),3,5,8-tetraene	KI	0.1 nM
4,5-Dichloro-10-aza-tricyclo[6.3.1.0*2,7*]dodeca-2(7),3,5-triene	KI	0.1 nM
CHEMBL2177512	KI	0.1 nM
6-methyl-7-thia-5,13-diazatetracyclo[9.3.1.02,10.04,8]pentadeca-2(10),3,5,8-tetraene	KI	0.12 nM
5-methyl-7-oxa-6,13-diazatetracyclo[9.3.1.02,10.04,8]pentadeca-2(10),3,5,8-tetraene	KI	0.13 nM
(S)-1-dodecyl-3-(1-methylpyrrolidin-2-yl)pyridinium iodide	KI	0.14 nM
7-phenyl-5,7,13-triazatetracyclo[9.3.1.02,10.04,8]pentadeca-2(10),3,5,8-tetraene	KI	0.14 nM
5,7,13-triazatetracyclo[9.3.1.02,10.04,8]pentadeca-2(10),3,5,8-tetraene	KI	0.15 nM
6-methyl-7-oxa-5,13-diazatetracyclo[9.3.1.02,10.04,8]pentadeca-2(10),3,5,8-tetraene	KI	0.15 nM
CHEMBL4160595	KI	0.15 nM
7-oxa-5,13-diazatetracyclo[9.3.1.02,10.04,8]pentadeca-2(10),3,5,8-tetraene	KI	0.16 nM
1-(10-Aza-tricyclo[6.3.1.0*2,7*]dodeca-2(7),3,5-trien-4-yl)-ethanone	KI	0.17 nM
6-methyl-7-propyl-5,7,13-triazatetracyclo[9.3.1.02,10.04,8]pentadeca-2(10),3,5,8-tetraene	KI	0.19 nM
4-Chloro-10-aza-tricyclo[6.3.1.0*2,7*]dodeca-2(7),3,5-triene	KI	0.2 nM
7-butyl-5,7,13-triazatetracyclo[9.3.1.02,10.04,8]pentadeca-2(10),3,5,8-tetraene	KI	0.2 nM
CHEMBL4647019	KI	0.2 nM
6-[5-(7-Aza-bicyclo[2.2.1]hept-2-yl)-pyridin-3-yl]-hex-5-yn-1-ol	KI	0.23 nM
7-isobutyl-6-methyl-5,7,13-triazatetracyclo[9.3.1.02,10.04,8]pentadeca-2(10),3,5,8-tetraene	KI	0.28 nM
4,5-Difluoro-10-aza-tricyclo[6.3.1.0*2,7*]dodeca-2(7),3,5-triene	KI	0.28 nM
3-(4-Methyl-isoxazol-5-ylmethyl)-1-aza-bicyclo[2.2.1]heptane	KI	0.3 nM
(3S)-3-[(2S)-2-[(2S)-2-[(2S)-2-[(2S)-2-[(2S)-2-[(2R)-2-[(2S)-2-{[(2S)-1-[(2S)-2-[(2S)-2-[(2R)-2-[(2R)-2-[2-(2-aminoacetamido)acetamido]-3-sulfanylpropanamido]-3-sulfanylpropanamido]-3-hydroxypropanamido]-3-(1H-imidazol-4-yl)propanoyl]pyrrolidin-2-yl]formamido}propanamido]-3-sulfanylpropanamido]propanamido]propanamido]-3-carbamoylpropanamido]-3-carbamoylpropanamido]-4-carbamoylbutanamido]-3-{[(1S)-1-{[(1R)-1-carbamoyl-2-sulfanylethyl]carbamoyl}-2-(4-hydroxyphenyl)ethyl]carbamoyl}propanoic acid	IC50	0.3 nM
7-isobutyl-5,7,13-triazatetracyclo[9.3.1.02,10.04,8]pentadeca-2(10),3,5,8-tetraene	KI	0.3 nM
6,7-dimethyl-5,7,13-triazatetracyclo[9.3.1.02,10.04,8]pentadeca-2(10),3,5,8-tetraene	KI	0.31 nM
4-Trifluoromethyl-10-aza-tricyclo[6.3.1.0*2,7*]dodeca-2(7),3,5-triene	KI	0.33 nM
(+)-Anatoxin-A	KI	0.34 nM
6-(6-Chloro-pyridin-3-yl)-8-aza-bicyclo[3.2.1]octane	KI	0.343 nM
CHEMBL4462550	IC50	0.35 nM
7-propyl-5,7,13-triazatetracyclo[9.3.1.02,10.04,8]pentadeca-2(10),3,5,8-tetraene	KI	0.36 nM
CHEMBL5404578	KI	0.36 nM
CHEMBL4454232	IC50	0.37 nM
CHEMBL4644169	KI	0.37 nM
CHEMBL2177526	KI	0.4 nM
CHEMBL2177555	KI	0.4 nM
CHEMBL2177549	KI	0.4 nM
CHEMBL4169986	KI	0.4 nM
ss-2c	KI	0.4 nM
5,6-Difluoro-11-aza-tricyclo[7.3.1.0*2,7*]trideca-2,4,6-triene	KI	0.44 nM
CHEMBL4556075	IC50	0.46 nM
3-(5-Azido-6-chloro-pyridin-3-ylmethyl)-3H-thiazol-2-ylideneamine	KI	0.47 nM
Trimethyl-[2-(pyridin-3-yloxy)-ethyl]-ammonium; chloride	KI	0.5 nM
10-Aza-tricyclo[6.3.1.0*2,7*]dodeca-2(7),3,5-triene-4-carbonitrile	KI	0.5 nM
CHEMBL595311	IC50	0.5 nM

ChEMBL bioactivities

2055 potent at pChembl≥5 of 2326 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
11.00	Ki	0.01	nM	EPIBATIDINE
11.00	Kd	0.01	nM	EPIBATIDINE
11.00	Kd	0.0101	nM	EPIBATIDINE
10.77	Ki	0.017	nM	CHEMBL2024096
10.77	Ki	0.01698	nM	CHEMBL2024096
10.74	Ki	0.018	nM	CHEMBL245243
10.70	EC50	0.02	nM	EPIBATIDINE
10.70	Ki	0.02	nM	CHEMBL4168511
10.68	Ki	0.021	nM	CHEMBL361465
10.66	Ki	0.022	nM	CHEMBL361465
10.59	Ki	0.026	nM	(+)-EPIBATIDINE
10.57	Ki	0.027	nM	AZIDOEPIBATIDINE
10.52	Kd	0.03	nM	EPIBATIDINE
10.52	Kd	0.03	nM	(-)-EPIBATIDINE
10.52	Ki	0.03	nM	CHEMBL2164666
10.51	Ki	0.031	nM	CHEMBL3086984
10.49	Ki	0.032	nM	CHEMBL3086994
10.48	Ki	0.033	nM	EPIBATIDINE
10.47	Ki	0.034	nM	TEBANICLINE
10.46	Ki	0.035	nM	EPIBATIDINE
10.44	EC50	0.036	nM	CHEMBL62858
10.42	Ki	0.038	nM	CHEMBL291498
10.40	Ki	0.04	nM	CHEMBL59986
10.40	Ki	0.04	nM	VARENICLINE
10.40	Ki	0.04	nM	CHEMBL63102
10.37	Ki	0.043	nM	CHEMBL3086985
10.35	Ki	0.045	nM	(+)-EPIBATIDINE
10.35	Ki	0.045	nM	NICOTINE
10.34	Ki	0.046	nM	CHEMBL3086982
10.34	Ki	0.046	nM	EPIBATIDINE
10.31	Ki	0.049	nM	CHEMBL3086991
10.30	Ki	0.05	nM	EPIBATIDINE
10.30	Ki	0.05	nM	CHEMBL3086995
10.30	EC50	0.05	nM	CHEMBL305106
10.30	Ki	0.05	nM	CHEMBL59986
10.30	Ki	0.05	nM	CHEMBL54902
10.28	Ki	0.052	nM	CHEMBL59986
10.26	Ki	0.055	nM	TEBANICLINE
10.25	Ki	0.0558	nM	EPIBATIDINE
10.22	EC50	0.06	nM	VARENICLINE
10.22	Ki	0.06	nM	VARENICLINE
10.22	Ki	0.06	nM	EPIBATIDINE
10.22	Ki	0.06	nM	CHEMBL5412811
10.21	Ki	0.062	nM	CHEMBL2024096
10.15	Ki	0.07	nM	EPIBATIDINE
10.14	Ki	0.072	nM	CHEMBL3086993
10.14	Ki	0.073	nM	CHEMBL185061
10.12	Ki	0.076	nM	CHEMBL3086986
10.11	Ki	0.0785	nM	CHEMBL220476
10.11	Ki	0.077	nM	CHEMBL5404069

PubChem BioAssay actives

1900 with measured affinity, of 4545 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-methyl-7-azabicyclo[2.2.1]heptane	304128: Displacement of [3H]epibatidine from alpha-4-beta-2 nAChR	ki	<0.0001	uM
6-[5-[[(2S)-azetidin-2-yl]methoxy]-3-pyridinyl]hex-5-yn-1-ol	2245507: Displacement of [3H]epibatidine from human alpha4beta2 nAChR extracted from HEK293 cell membrane assessed as inhibition constant incubated for 240 mins by liquid scintillation counting method	ki	<0.0001	uM
2-(6-chloro-3-pyridinyl)-7-azabicyclo[2.2.1]heptane	1410535: Displacement of [3H]epibatidine from alpha4beta2 nAChR (unknown origin) expressed in HEK cell membranes after 4 hrs by liquid scintillation counting method	ki	<0.0001	uM
(1R,4R)-2-pyridin-3-yl-2,5-diazabicyclo[2.2.1]heptane	1359521: Agonist activity at alpha4beta2 nAChR (unknown origin)	ki	<0.0001	uM
(1S,2S,4R)-2-(6-chloro-3-pyridinyl)-7-azabicyclo[2.2.1]heptane	1252856: Binding affinity to alpha4beta2 nAChR (unknown origin)	ki	<0.0001	uM
5-[[(2R)-azetidin-2-yl]methoxy]-2-chloropyridine	146301: Compound was evaluated for its ability to displace [3H]cytisine from K177 cells expressing human Nicotinic acetylcholine receptor alpha4-beta2	ki	<0.0001	uM
2-(5-azido-6-chloro-3-pyridinyl)-7-azabicyclo[2.2.1]heptane	146309: Binding affinity to alpha4 beta-2 receptor subtype from mouse fibroblast M10 cells was measured using [3 H]nicotine	ki	<0.0001	uM
2-(6-chloro-3-pyridinyl)-9-azabicyclo[4.2.1]non-2-ene	640183: Displacement of [3H]epibatidine from nAChR alpha4beta2 receptor	ki	<0.0001	uM
Varenicline	1647833: Displacement of [3H]cytisine from human alpha4beta2 nAChR expressed in CHOK1 cell membrane by microbeta scintillation counting method	ki	<0.0001	uM
3-[[(2S)-azetidin-2-yl]methoxy]pyridine	146301: Compound was evaluated for its ability to displace [3H]cytisine from K177 cells expressing human Nicotinic acetylcholine receptor alpha4-beta2	ki	<0.0001	uM
3-[[(2S)-azetidin-2-yl]methoxy]-5-(2-phenylethynyl)pyridine	1053303: Displacement of [3H]epibatidine from human alpha4beta2 nAChR after 4 hrs by cell-based assay	ki	<0.0001	uM
3-[[(2S)-azetidin-2-yl]methoxy]-5-[2-(3-fluorophenyl)ethynyl]pyridine	1053303: Displacement of [3H]epibatidine from human alpha4beta2 nAChR after 4 hrs by cell-based assay	ki	<0.0001	uM
3-[[(2S)-azetidin-2-yl]methoxy]-5-[2-(3-fluoro-5-methylphenyl)ethynyl]pyridine	1053303: Displacement of [3H]epibatidine from human alpha4beta2 nAChR after 4 hrs by cell-based assay	ki	<0.0001	uM
3-[2-[5-[[(2S)-azetidin-2-yl]methoxy]-3-pyridinyl]ethynyl]-5-fluoro-N,N-dimethylaniline	1053303: Displacement of [3H]epibatidine from human alpha4beta2 nAChR after 4 hrs by cell-based assay	ki	<0.0001	uM
3-[[(2S)-azetidin-2-yl]methoxy]-5-[2-(3-methylphenyl)ethynyl]pyridine	1053303: Displacement of [3H]epibatidine from human alpha4beta2 nAChR after 4 hrs by cell-based assay	ki	<0.0001	uM
(1R,2R,4S)-2-(6-chloro-3-pyridinyl)-7-azabicyclo[2.2.1]heptane	1275134: Binding affinity to alpha4beta2 nACh receptor (unknown origin) expressed in Xenopus oocytes	kd	<0.0001	uM
Nicotine	1359521: Agonist activity at alpha4beta2 nAChR (unknown origin)	ki	<0.0001	uM
5-iodo-7,11-diazatricyclo[7.3.1.02,7]trideca-2,4-dien-6-one	246575: Change in membrane potential in K-177 cells expressing acetylcholine central neuronal receptor alpha4-beta2 subunits	ec50	<0.0001	uM
2-(6-chloro-3-pyridinyl)-2,5-diazabicyclo[2.2.1]heptane	1359521: Agonist activity at alpha4beta2 nAChR (unknown origin)	ki	<0.0001	uM
1-decyl-3-[(2S)-1-methylpyrrolidin-2-yl]pyridin-1-ium iodide	1243907: Binding affinity to alpha4beta2 nAChR (unknown origin)	ki	0.0001	uM
6-methyl-5,7,13-triazatetracyclo[9.3.1.02,10.04,8]pentadeca-2,4(8),5,9-tetraene	254476: Binding affinity for human Nicotinic acetylcholine receptor alpha4-beta2 expressed in HEK 293 cells using [3H]nicotine	ki	0.0001	uM
1-dodecyl-3-[(2S)-1-methylpyrrolidin-2-yl]pyridin-1-ium iodide	1243907: Binding affinity to alpha4beta2 nAChR (unknown origin)	ki	0.0001	uM
(1S,2S,5R)-2-(pyridin-3-yloxymethyl)-3-azabicyclo[3.1.0]hexane;hydrochloride	1647833: Displacement of [3H]cytisine from human alpha4beta2 nAChR expressed in CHOK1 cell membrane by microbeta scintillation counting method	ki	0.0001	uM
(1S,4S)-2-pyridin-3-yl-2,5-diazabicyclo[2.2.1]heptane	1359521: Agonist activity at alpha4beta2 nAChR (unknown origin)	ki	0.0001	uM
2-chloro-5-[(3S)-3-methyl(511C)pentyl]-3-[(E)-2-pyridin-4-ylethenyl]pyridine	1988843: Binding affinity to nACh alpha6beta2 receptor (unknown origin) assessed as inhibition constant	ki	0.0001	uM
6-[5-(2-(18F)fluoro-3-pyridinyl)-3-pyridinyl]-8-methyl-8-azabicyclo[3.2.1]octane	1988843: Binding affinity to nACh alpha6beta2 receptor (unknown origin) assessed as inhibition constant	ki	0.0001	uM
3-[[(2S)-azetidin-2-yl]methoxy]-5-phenylpyridine	1053303: Displacement of [3H]epibatidine from human alpha4beta2 nAChR after 4 hrs by cell-based assay	ki	0.0001	uM
(4S)-2-(6-chloro-3-pyridinyl)-7-azabicyclo[2.2.1]heptane	146639: Binding affinity towards nicotinic acetylcholine receptor alpha4-beta2	ki	0.0001	uM
6-(6-chloro-3-pyridinyl)-8-azabicyclo[3.2.1]octane	276249: Displacement of [3H]epibatidine from human recombinant alpha4beta2 nAChR in HEK293 cells by SPA assay	ki	0.0001	uM
7-(6-chloro-3-pyridinyl)-2-azabicyclo[2.2.1]heptane	276249: Displacement of [3H]epibatidine from human recombinant alpha4beta2 nAChR in HEK293 cells by SPA assay	ki	0.0001	uM
(1R,5S)-7-pyridin-3-yl-3-azabicyclo[3.3.1]non-6-ene	705817: Displacement of [3H]nicotine from human alpha4beta2 nAChR expressed in human SH-EP1 cells	ki	0.0001	uM
3-[[(2S)-azetidin-2-yl]methoxy]-5-[2-(3-fluoro-5-methoxyphenyl)ethynyl]pyridine	1053303: Displacement of [3H]epibatidine from human alpha4beta2 nAChR after 4 hrs by cell-based assay	ki	0.0001	uM
3-[[(2S)-azetidin-2-yl]methoxy]-5-[2-(3-chlorophenyl)ethynyl]pyridine	1053303: Displacement of [3H]epibatidine from human alpha4beta2 nAChR after 4 hrs by cell-based assay	ki	0.0001	uM
3-[[(2S)-azetidin-2-yl]methoxy]-5-[2-(4-fluorophenyl)ethynyl]pyridine	1053303: Displacement of [3H]epibatidine from human alpha4beta2 nAChR after 4 hrs by cell-based assay	ki	0.0001	uM
3-[[(2S)-azetidin-2-yl]methoxy]-5-[2-(3,5-difluorophenyl)ethynyl]pyridine	1053303: Displacement of [3H]epibatidine from human alpha4beta2 nAChR after 4 hrs by cell-based assay	ki	0.0001	uM
3-[[(2S)-azetidin-2-yl]methoxy]-5-[2-(2-fluorophenyl)ethynyl]pyridine	1053303: Displacement of [3H]epibatidine from human alpha4beta2 nAChR after 4 hrs by cell-based assay	ki	0.0001	uM
3-[[(2R)-azetidin-2-yl]methoxy]-5-(2-phenylethynyl)pyridine	1053303: Displacement of [3H]epibatidine from human alpha4beta2 nAChR after 4 hrs by cell-based assay	ki	0.0001	uM
6-methyl-5-oxa-7,13-diazatetracyclo[9.3.1.02,10.04,8]pentadeca-2,4(8),6,9-tetraene	254476: Binding affinity for human Nicotinic acetylcholine receptor alpha4-beta2 expressed in HEK 293 cells using [3H]nicotine	ki	0.0001	uM
7-methyl-5-oxa-6,13-diazatetracyclo[9.3.1.02,10.04,8]pentadeca-2(10),3,6,8-tetraene	254476: Binding affinity for human Nicotinic acetylcholine receptor alpha4-beta2 expressed in HEK 293 cells using [3H]nicotine	ki	0.0001	uM
5-bromo-7,11-diazatricyclo[7.3.1.02,7]trideca-2,4-dien-6-one	246575: Change in membrane potential in K-177 cells expressing acetylcholine central neuronal receptor alpha4-beta2 subunits	ec50	0.0001	uM
5-chloro-7,11-diazatricyclo[7.3.1.02,7]trideca-2,4-dien-6-one	246575: Change in membrane potential in K-177 cells expressing acetylcholine central neuronal receptor alpha4-beta2 subunits	ec50	0.0001	uM
4,5-dichloro-10-azatricyclo[6.3.1.02,7]dodeca-2,4,6-triene	254476: Binding affinity for human Nicotinic acetylcholine receptor alpha4-beta2 expressed in HEK 293 cells using [3H]nicotine	ki	0.0001	uM
6-methyl-5-thia-7,13-diazatetracyclo[9.3.1.02,10.04,8]pentadeca-2,4(8),6,9-tetraene	254476: Binding affinity for human Nicotinic acetylcholine receptor alpha4-beta2 expressed in HEK 293 cells using [3H]nicotine	ki	0.0001	uM
5,7,13-triazatetracyclo[9.3.1.02,10.04,8]pentadeca-2,4(8),5,9-tetraene	254476: Binding affinity for human Nicotinic acetylcholine receptor alpha4-beta2 expressed in HEK 293 cells using [3H]nicotine	ki	0.0001	uM
3-pyridin-3-yl-3,7-diazabicyclo[3.3.1]nonane	705817: Displacement of [3H]nicotine from human alpha4beta2 nAChR expressed in human SH-EP1 cells	ki	0.0001	uM
7-phenyl-5,7,13-triazatetracyclo[9.3.1.02,10.04,8]pentadeca-2,4(8),5,9-tetraene	254476: Binding affinity for human Nicotinic acetylcholine receptor alpha4-beta2 expressed in HEK 293 cells using [3H]nicotine	ki	0.0001	uM
1-(10-azatricyclo[6.3.1.02,7]dodeca-2(7),3,5-trien-4-yl)ethanone	254476: Binding affinity for human Nicotinic acetylcholine receptor alpha4-beta2 expressed in HEK 293 cells using [3H]nicotine	ki	0.0002	uM
5-(6-chloro-3-pyridinyl)-2-azabicyclo[2.2.1]heptane	276249: Displacement of [3H]epibatidine from human recombinant alpha4beta2 nAChR in HEK293 cells by SPA assay	ki	0.0002	uM
cytisinicline	2245507: Displacement of [3H]epibatidine from human alpha4beta2 nAChR extracted from HEK293 cell membrane assessed as inhibition constant incubated for 240 mins by liquid scintillation counting method	ki	0.0002	uM
(1R,3S,5R)-3-[(5-chloro-3-pyridinyl)oxymethyl]-2-azabicyclo[3.1.0]hexane;hydrochloride	1647833: Displacement of [3H]cytisine from human alpha4beta2 nAChR expressed in CHOK1 cell membrane by microbeta scintillation counting method	ki	0.0002	uM

CTD chemical–gene interactions

85 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetylcholine	increases activity, decreases reaction, increases reaction, affects binding, affects reaction (+3 more)	15
Nicotine	affects binding, increases response to substance, decreases activity, decreases reaction, increases phosphorylation (+2 more)	6
Varenicline	affects binding, increases activity	4
Mecamylamine	affects binding, decreases activity, decreases reaction, increases activity, decreases uptake	4
cytisine	affects binding, increases activity, decreases reaction	3
Dihydro-beta-Erythroidine	affects binding, decreases activity, decreases reaction, increases activity, decreases uptake	3
Tubocurarine	affects activity, affects binding, decreases reaction, increases activity, increases reaction (+1 more)	3
tetrabromobisphenol A	affects binding, decreases reaction, increases activity, affects cotreatment	2
imidacloprid	affects binding, decreases reaction, increases activity	2
epibatidine	affects binding, decreases reaction, increases activity	2
Estradiol	affects binding, affects cotreatment, increases activity, increases expression	2
Ethinyl Estradiol	increases activity, affects activity, increases reaction, decreases reaction, affects binding (+1 more)	2
Flame Retardants	affects binding, decreases reaction, increases activity, affects cotreatment	2
Lobeline	affects binding, decreases activity, decreases reaction, increases phosphorylation	2
Pancuronium	affects binding, decreases reaction, increases activity, decreases activity	2
Physostigmine	affects activity, increases reaction, affects binding, decreases activity, decreases reaction	2
Vecuronium Bromide	affects binding, decreases reaction, increases activity, decreases activity	2
Cyclosporine	decreases expression, increases methylation	2
triptolide	affects binding, decreases reaction, increases activity	1
triphenyl phosphate	affects cotreatment, decreases reaction, increases activity	1
bisphenol A	decreases reaction, affects activity, affects binding	1
subecholine	affects binding, decreases reaction, decreases activity, increases activity	1
decabromobiphenyl ether	affects cotreatment, decreases reaction, increases activity	1
decamethonium	affects binding, decreases activity, decreases reaction	1
2,4,2’,4’-tetrachlorobiphenyl	affects cotreatment, affects binding, decreases reaction, increases activity	1
antimony trioxide	affects cotreatment, decreases reaction, increases activity	1
4-nonylphenol	affects activity, affects binding, decreases reaction	1
celastrol	affects binding, decreases reaction, increases activity	1
methyllycaconitine	affects binding, decreases activity, decreases reaction	1
4-octylphenol	affects activity, affects binding, decreases reaction	1

ChEMBL screening assays

696 unique, capped per target: 567 binding, 127 functional, 1 toxicity, 1 admet

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1669854	Binding	Binding affinity to beta2 nAChR	Synthesis and structure-analgesic activity relationships of a novel series of monospirocyclopiperazinium salts (MSPZ). — *Bioorg Med Chem Lett*
CHEMBL1022415	Functional	Agonist activity at human alpha4beta2 nAChR expressed in HEK293 cells assessed as intracellular calcium level by FLIPR assay	Complementary three-dimensional quantitative structure-activity relationship modeling of binding affinity and functional potency: a study on alpha4beta2 nicotinic ligands. — *J Med Chem*
CHEMBL5166939	Toxicity	Inhibition of human recombinant nAChRalpha4/beta2 incubated for 120 mins by radiometric scintillation counting method	Design of a Potent, Selective, and Brain-Penetrant Inhibitor of Wnt-Deactivating Enzyme Notum by Optimization of a Crystallographic Fragment Hit. — *J Med Chem*

Cellosaurus cell lines

7 cell lines: 4 cancer cell line, 3 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_5I63	K177	Transformed cell line	Female
CVCL_C7NI	MKN1 CHRNB2 KO-1	Cancer cell line	Male
CVCL_C7NJ	MKN1 CHRNB2 KO-2	Cancer cell line	Male
CVCL_D1KG	PrecisION hnAChR alpha4/alpha6/beta2-HEK	Transformed cell line	Female
CVCL_D1KH	PrecisION hnAChR alpha4/beta2-HEK	Transformed cell line	Female
CVCL_SJ01	HAP1 CHRNB2 (-) 1	Cancer cell line	Male
CVCL_SJ02	HAP1 CHRNB2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

showing 60 of 206 trials:

NCT	Phase	Status	Title
NCT05657860	Phase 4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	Phase 4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	Phase 4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	Phase 4	RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	Phase 3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	Phase 2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	Phase 2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	Phase 2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	Phase 2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT01119144	Phase 2	UNKNOWN	Polycaprolactone / Tricalcium Phosphate (PCL/TCP) v Titanium Orbital Implant : Randomised Trial
NCT05273320	Phase 1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	Phase 1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	Phase 1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	Phase 1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	Phase 1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	Phase 2/3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	Phase 1/2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	Early Phase 1	TERMINATED	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders
NCT02862808	Not specified	COMPLETED	Molecular Diagnosis of Syndromic or Isolated Severe Intellectual Disability Using Whole Exome Sequencing : a Pilot Study
NCT02881333	Not specified	UNKNOWN	Various Type of Genetic Events in Patients With Intellectual Disability
NCT02889068	Not specified	COMPLETED	Targeted Next Generation Sequencing and Intellectual Disability
NCT02914951	Not specified	ENROLLING_BY_INVITATION	Cognitive-Behavioral Therapy for Irritability in Children With Autism Spectrum Disorder and Intellectual Disability
NCT02919826	Not specified	COMPLETED	Dialectical Behaviour Group Therapy for Adults With Intellectual Disabilities
NCT02934854	Not specified	WITHDRAWN	Biomarker for Creatine Deficiency Syndromes (BioCDS)
NCT03033797	Not specified	UNKNOWN	Augmentative and Alternative Communication in Games With Virtual Reality in Intellectual Disabilities
NCT03135236	Not specified	COMPLETED	Parents as the Primary Sexuality Educators for Their Young Adults With Down Syndrome
NCT03139760	Not specified	COMPLETED	POWERSforID: A Telehealth Weight Management System for Adults With Intellectual Disability
NCT03203226	Not specified	COMPLETED	The Feldenkrais Method for People With Intellectual Disability
NCT03212092	Not specified	COMPLETED	Reducing Aggression Among People With an Intellectual Disability
NCT03218462	Not specified	COMPLETED	Effect of Sensory Adapted Dental Environment on Dental Anxiety of Children With Intellectual and Developmental Disabilities
NCT03234231	Not specified	UNKNOWN	Supervised Brushing Programme for Intellectual Disabled Students
NCT03348124	Not specified	UNKNOWN	Prevention Among Young People With Intellectual Disability
NCT03424772	Not specified	UNKNOWN	Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China
NCT03426059	Not specified	COMPLETED	Mapping the Phenotype in Adults With Phelan-McDermid Syndrome
NCT03492060	Not specified	RECRUITING	Longitudinal Study of Neurogenetic Disorders
NCT03501914	Not specified	COMPLETED	A Pilot Trial of Mindfulness Based Intervention Program for People With Intellectual Disabilities in a Low Income Setting
NCT03522337	Not specified	COMPLETED	Oral Health Promotion Among Preschool Children With Special Needs

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for CHRNB2 across ~30M SureChEMBL compounds — explore on Sugi Predict.