SCN2B

Summary

SCN2B (sodium voltage-gated channel beta subunit 2, HGNC:10589) is a protein-coding gene on chromosome 11q23.3, encoding Sodium channel regulatory subunit beta-2 (O60939). Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes.

The protein encoded by this gene is the beta 2 subunit of the type II voltage-gated sodium channel. The encoded protein is involved in cell-cell adhesion and cell migration. Defects in this gene can be a cause of Brugada Syndrome, atrial fibrillation, or sudden infant death syndrome.

Source: NCBI Gene 6327 — RefSeq curated summary.

At a glance

• Gene–disease (curated): atrial fibrillation, familial, 14 (Moderate, GenCC) — +3 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 252 total — 1 pathogenic
• Phenotypes (HPO): 27
• Druggable target: yes — 2 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_004588

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10589
Approved symbol	SCN2B
Name	sodium voltage-gated channel beta subunit 2
Location	11q23.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000149575
Ensembl biotype	protein_coding
OMIM	601327
Entrez	6327

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding_CDS_not_defined, 1 protein_coding, 1 nonsense_mediated_decay

ENST00000278947, ENST00000658882, ENST00000665446, ENST00000669850

RefSeq mRNA: 1 — MANE Select: NM_004588 NM_004588

CCDS: CCDS8390

Canonical transcript exons

ENST00000278947 — 4 exons

Exon	Start	End
ENSE00000991459	118168585	118168751
ENSE00000991460	118168085	118168295
ENSE00001302997	118176362	118176639
ENSE00001326757	118162806	118167086

Expression profiles

Bgee: expression breadth ubiquitous, 182 present calls, max score 96.61.

FANTOM5 (CAGE): breadth broad, TPM avg 8.8107 / max 492.4318, expressed in 292 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
122573	8.1783	280
122569	0.2661	68
122574	0.1691	75
122571	0.0984	46
122572	0.0514	30
122570	0.0474	24

Top tissues by expression

260 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	96.61	gold quality
lateral nuclear group of thalamus	UBERON:0002736	93.35	gold quality
cerebellar cortex	UBERON:0002129	93.10	gold quality
cerebellar hemisphere	UBERON:0002245	93.07	gold quality
prefrontal cortex	UBERON:0000451	93.06	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.00	gold quality
cerebellum	UBERON:0002037	92.73	gold quality
cerebellar vermis	UBERON:0004720	91.77	gold quality
superior frontal gyrus	UBERON:0002661	91.52	gold quality
primary visual cortex	UBERON:0002436	91.26	gold quality
right frontal lobe	UBERON:0002810	91.19	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	90.78	gold quality
frontal cortex	UBERON:0001870	90.63	gold quality
occipital lobe	UBERON:0002021	90.48	gold quality
Brodmann (1909) area 9	UBERON:0013540	90.39	gold quality
parietal lobe	UBERON:0001872	90.01	gold quality
postcentral gyrus	UBERON:0002581	89.85	gold quality
nucleus accumbens	UBERON:0001882	89.46	gold quality
neocortex	UBERON:0001950	89.44	gold quality
paraflocculus	UBERON:0005351	89.19	gold quality
Brodmann (1909) area 23	UBERON:0013554	88.93	gold quality
cingulate cortex	UBERON:0003027	88.82	gold quality
anterior cingulate cortex	UBERON:0009835	88.73	gold quality
cerebral cortex	UBERON:0000956	88.47	gold quality
telencephalon	UBERON:0001893	87.73	gold quality
frontal pole	UBERON:0002795	87.70	gold quality
putamen	UBERON:0001874	86.97	gold quality
caudate nucleus	UBERON:0001873	86.92	gold quality
entorhinal cortex	UBERON:0002728	86.88	gold quality
substantia nigra pars compacta	UBERON:0001965	86.66	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.93

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

214 targeting SCN2B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-3162-3P	100.00	65.37	363
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
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-499A-5P	99.98	70.79	1323
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505

Literature-anchored findings (GeneRIF, showing 10)

• beta2 is a PS/gamma-secretase substrate, gamma-secretase mediated cleavage of beta2-C-terminal fragment is required for cell-cell adhesion and migration of beta2-expressing cells (PMID:15833746)
• SCN2B is a new candidate gene associated with Brugada syndrome. (PMID:23559163)
• sodium channel polymorphisms are associated with epilepsy (PMID:24337656)
• With increased beta-2 expression, prostate cancer cells display a trend of enhanced association with nerve axons. (PMID:24892658)
• In a nonreferred nationwide Danish cohort of SIDS cases, up to 5/66 (7.5%) of SIDS cases can be explained by genetic variants in the sodium channel complex genes. (PMID:25757662)
• Contribution of Cardiac Sodium Channel beta-Subunit Variants to Brugada Syndrome. (PMID:26179811)
• The authors identified a flexible loop formed by (72)Cys and (75)Cys, a unique feature among the four beta-subunit isoforms. (PMID:26894959)
• Findings add to the understanding of beta2 role in Nav 1.5 trafficking and localisation, which must influence cell excitability and electrical coupling in the heart. (PMID:28597987)
• this study reports the cryo-electron microscopy structures of the human Nav1.7-beta1-beta2 complex bound to two combinations of pore blockers and gating modifier toxins (GMTs), tetrodotoxin with protoxin-II and saxitoxin with huwentoxin-IV, both determined at overall resolutions of 3.2 angstroms. (PMID:30765606)
• A novel gain-of-function sodium channel beta2 subunit mutation in idiopathic small fiber neuropathy. (PMID:34320850)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	scn2b	ENSDARG00000101713
mus_musculus	Scn2b	ENSMUSG00000070304
rattus_norvegicus	Scn2b	ENSRNOG00000063505

Paralogs (6): MPZL2 (ENSG00000149573), MPZ (ENSG00000158887), MPZL3 (ENSG00000160588), JAML (ENSG00000160593), SCN4B (ENSG00000177098), MPZL1 (ENSG00000197965)

Protein

Protein identifiers

Sodium channel regulatory subunit beta-2 — O60939 (reviewed: O60939)

All UniProt accessions (3): O60939, A0A590UJS3, Q5U0K8

UniProt curated annotations — full annotation on UniProt →

Function. Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na+ ions provokes membrane depolarization, initiating the propagation of electrical signals throughout cells and tissues. The accessory beta subunits participate in localization and functional modulation of the Nav channels. Modulates the activity of SCN1A/Nav1.1, SCN2A/Nav1.2, SCN2A/Nav1.3, SCN5A/Nav1.5, SCN8A/Nav1.6, SCN9A/Nav1.7 and SCN10A/Nav1.8.

Subunit / interactions. A voltage-gated sodium (Nav) channel consists of an ion-conducting pore-forming alpha subunit functional on its own that is regulated by one or more beta subunits. The beta subunit SCN2B is disulfide-linked to the pore-forming alpha subunit. Interacts with SCN1A; regulatory subunit of SCN1A/Nav1.1. Interacts with SCN2A; regulatory subunit of SCN2A/Nav1.2. Interacts with SCN3A; regulatory subunit of SCN3A/Nav1.3. Interacts with SCN5A; regulatory subunit of SCN5A/Nav1.5. Interacts with SCN8A; regulatory subunit of SCN8A/Nav1.6. Interacts with SCN9A; regulatory subunit of SCN9A/Nav1.7. Interacts with SCN10A; regulatory subunit of SCN10A/Nav1.8. Interacts with TNR; may play a crucial role in clustering and regulation of activity of SCN2B-containing Nav channels at nodes of Ranvier.

Subcellular location. Cell membrane. Cell projection. Axon.

Disease relevance. Atrial fibrillation, familial, 14 (ATFB14) [MIM:615378] A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. The disease is caused by variants affecting the gene represented in this entry. Genetic variations in SCN2B may be involved in Brugada syndrome. This tachyarrhythmia is characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.

Similarity. Belongs to the sodium channel auxiliary subunit SCN2B (TC 8.A.17) family.

RefSeq proteins (1): NP_004579* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000920	Myelin_P0-rel	Family
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily

Pfam: PF07686

UniProt features (47 total): strand 12, sequence conflict 7, sequence variant 4, glycosylation site 3, disulfide bond 3, helix 3, modified residue 2, topological domain 2, turn 2, site 2, signal peptide 1, chain 1, mutagenesis site 1, transmembrane region 1, domain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

35 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
5FEB	X-RAY DIFFRACTION	1.35
6VRR	X-RAY DIFFRACTION	1.45
5FDY	X-RAY DIFFRACTION	1.85
7W9K	ELECTRON MICROSCOPY	2.2
8I5Y	ELECTRON MICROSCOPY	2.6
21TQ	ELECTRON MICROSCOPY	2.7
7XVE	ELECTRON MICROSCOPY	2.7
8I5B	ELECTRON MICROSCOPY	2.7
8I5G	ELECTRON MICROSCOPY	2.7
8THH	ELECTRON MICROSCOPY	2.7
7XVF	ELECTRON MICROSCOPY	2.8
8G1A	ELECTRON MICROSCOPY	2.8
7W9P	ELECTRON MICROSCOPY	2.9
8I5X	ELECTRON MICROSCOPY	2.9
8S9B	ELECTRON MICROSCOPY	2.9
8THG	ELECTRON MICROSCOPY	2.9
21TP	ELECTRON MICROSCOPY	3
6J8E	ELECTRON MICROSCOPY	3
7W9M	ELECTRON MICROSCOPY	3
7W9T	ELECTRON MICROSCOPY	3
7XMF	ELECTRON MICROSCOPY	3.07
7XMG	ELECTRON MICROSCOPY	3.09
6J8G	ELECTRON MICROSCOPY	3.2
6J8H	ELECTRON MICROSCOPY	3.2
6J8I	ELECTRON MICROSCOPY	3.2
6J8J	ELECTRON MICROSCOPY	3.2
8S9C	ELECTRON MICROSCOPY	3.2
7XM9	ELECTRON MICROSCOPY	3.22
7W77	ELECTRON MICROSCOPY	3.3
8GZ2	ELECTRON MICROSCOPY	3.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60939-F1	86.03	0.65

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 (2): 56 (binds scn2a); 135 (binds scn2a)

Post-translational modifications (2): 192, 204

Disulfide bonds (3): 50–127, 55, 72–75

Glycosylation sites (3): 42, 66, 74

Mutagenesis-validated functional residues (1):

Position	Phenotype
55	does not bind alpha subunit. loss of ability to protect alpha subunit from inhibition by the spider protoxin-ii.

Function

Pathways and Gene Ontology

Reactome pathways

11 pathways

ID	Pathway
R-HSA-445095	Interaction between L1 and Ankyrins
R-HSA-5576892	Phase 0 - rapid depolarisation
R-HSA-9717207	Sensory perception of sweet, bitter, and umami (glutamate) taste
R-HSA-1266738	Developmental Biology
R-HSA-373760	L1CAM interactions
R-HSA-397014	Muscle contraction
R-HSA-422475	Axon guidance
R-HSA-5576891	Cardiac conduction
R-HSA-9675108	Nervous system development
R-HSA-9709957	Sensory Perception
R-HSA-9717189	Sensory perception of taste

MSigDB gene sets: 303 (showing top): GGGACCA_MIR133A_MIR133B, GOBP_MEMBRANE_DEPOLARIZATION, MODULE_274, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_MEMBRANE_DEPOLARIZATION_DURING_ACTION_POTENTIAL, MODULE_45, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, AAGCCAT_MIR135A_MIR135B, TATTATA_MIR374, RACCACAR_AML_Q6, GOBP_REGULATION_OF_MEMBRANE_DEPOLARIZATION, GOBP_POSITIVE_REGULATION_OF_SODIUM_ION_TRANSPORT, MODULE_16

GO Biological Process (18): chemical synaptic transmission (GO:0007268), nervous system development (GO:0007399), response to heat (GO:0009408), gene expression (GO:0010467), positive regulation of sodium ion transport (GO:0010765), response to pyrethroid (GO:0046684), cardiac muscle contraction (GO:0060048), regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371), cardiac conduction (GO:0061337), cardiac muscle cell action potential involved in contraction (GO:0086002), membrane depolarization during action potential (GO:0086010), membrane depolarization during cardiac muscle cell action potential (GO:0086012), regulation of heart rate by cardiac conduction (GO:0086091), monoatomic ion transport (GO:0006811), sodium ion transport (GO:0006814), monoatomic ion transmembrane transport (GO:0034220), sodium ion transmembrane transport (GO:0035725), membrane repolarization during ventricular cardiac muscle cell action potential (GO:0098915)

GO Molecular Function (4): sodium channel regulator activity (GO:0017080), voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006), voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282), voltage-gated sodium channel activity (GO:0005248)

GO Cellular Component (9): voltage-gated sodium channel complex (GO:0001518), plasma membrane (GO:0005886), T-tubule (GO:0030315), node of Ranvier (GO:0033268), axon initial segment (GO:0043194), synapse (GO:0045202), membrane (GO:0016020), axon (GO:0030424), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
L1CAM interactions	1
Cardiac conduction	1
Sensory perception of taste	1
Axon guidance	1
Nervous system development	1
Muscle contraction	1
Developmental Biology	1
Sensory Perception	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
sodium ion transport	2
cardiac muscle cell action potential	2
sodium channel activity	2
main axon	2
anterograde trans-synaptic signaling	1
system development	1
response to stress	1
response to temperature stimulus	1
macromolecule biosynthetic process	1
regulation of sodium ion transport	1
positive regulation of monoatomic ion transport	1
response to insecticide	1
striated muscle contraction	1
heart contraction	1
regulation of membrane depolarization	1
regulation of heart contraction	1
cardiac muscle cell contraction	1
action potential	1
membrane depolarization	1
membrane depolarization during action potential	1
regulation of heart rate	1
cardiac conduction	1
transport	1
metal ion transport	1
monoatomic ion transport	1
transmembrane transport	1
monoatomic cation transmembrane transport	1
ventricular cardiac muscle cell action potential	1
membrane repolarization during cardiac muscle cell action potential	1
ventricular cardiac muscle cell membrane repolarization	1
ion channel regulator activity	1
voltage-gated sodium channel activity	1
membrane depolarization during cardiac muscle cell action potential	1
voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	1
membrane repolarization during ventricular cardiac muscle cell action potential	1
sodium channel complex	1
plasma membrane protein complex	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1582 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SCN2B	SCN1B	Q07699	986
SCN2B	SCN3B	Q9NY72	976
SCN2B	SCN1A	P35498	900
SCN2B	SCN5A	Q14524	820
SCN2B	SCN9A	Q15858	802
SCN2B	NAV1	Q8NEY1	769
SCN2B	RANGRF	Q9HD47	734
SCN2B	KCNE5	Q9UJ90	720
SCN2B	SCN8A	Q9UQD0	715
SCN2B	SCN2A	Q99250	707
SCN2B	KCNE3	Q9Y6H6	699
SCN2B	GPD1L	Q8N335	676
SCN2B	KCND3	Q9UK17	672
SCN2B	SLMAP	Q14BN4	645
SCN2B	KCNJ8	Q15842	634

IntAct

15 interactions, top by confidence:

A	B	Type	Score
SCN2B	EXOC5	psi-mi:“MI:0914”(association)	0.640
SCN2A	SCN2B	psi-mi:“MI:0407”(direct interaction)	0.560
SCN1B	SCN2B	psi-mi:“MI:0915”(physical association)	0.490
SCN2B	MAG	psi-mi:“MI:0915”(physical association)	0.400
CD200R1	SCN2B	psi-mi:“MI:0915”(physical association)	0.400
SCN2B	MXRA5	psi-mi:“MI:0915”(physical association)	0.400
CFTR	SCN2B	psi-mi:“MI:0915”(physical association)	0.370
ATG10	SCN2B	psi-mi:“MI:0914”(association)	0.350
LRRC32	ORC4	psi-mi:“MI:0914”(association)	0.350
SCN2B	RIMOC1	psi-mi:“MI:0914”(association)	0.350
	SCN2B	psi-mi:“MI:0915”(physical association)	0.320

BioGRID (211): SLC39A11 (Affinity Capture-MS), CAND2 (Affinity Capture-MS), MDN1 (Affinity Capture-MS), XPO7 (Affinity Capture-MS), UTP20 (Affinity Capture-MS), RNF213 (Affinity Capture-MS), DDX20 (Affinity Capture-MS), BZW2 (Affinity Capture-MS), KIAA0391 (Affinity Capture-MS), ATR (Affinity Capture-MS), HEATR3 (Affinity Capture-MS), TNPO2 (Affinity Capture-MS), GCN1L1 (Affinity Capture-MS), HIP1R (Affinity Capture-MS), MTOR (Affinity Capture-MS)

ESM2 similar proteins: A4FUY1, M0RAS4, O18796, O60939, O75144, O95297, P01857, P01859, P01860, P01861, P07722, P20916, P20917, P51641, P54900, P97546, Q07212, Q08E08, Q14CZ8, Q15223, Q1WIM1, Q1WIM3, Q2KI11, Q32PI9, Q3TEW6, Q56A07, Q640R3, Q6AYP5, Q6AYT8, Q7M729, Q7M730, Q7TNR6, Q864L3, Q8BHK2, Q8HXJ7, Q8IWT1, Q8N126, Q8NFZ8, Q8R464, Q8R5M8

Diamond homologs: A0JM41, A2VD98, A5D7C3, O60487, O60939, O70255, O95297, P06907, P10522, P20938, P25189, P27573, P37301, P54900, Q29RR6, Q32PI9, Q3TEW6, Q3V3F6, Q4KLY3, Q5EAB0, Q5R804, Q6AYT8, Q6UWV2, Q6WEB5, Q7M729, Q7M730, Q86XK7, Q8AVM3, Q8IWT1, Q9D2J4, Q9PWR4, P78310, P97792, Q08E08, Q56A07, Q5R764, Q864L3, Q86YT9, Q8WMV3, Q91664

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SCN2B	“form complex”	“Nax cation channel complex SCN2B-SCN3B variant”	binding
SCN2B	“form complex”	“Nax cation channel complex, SCN1B-SCN2B variant”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	123
Likely benign	94
Benign	13

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	Pathogenic

SpliceAI

712 predictions. Top by Δscore:

Variant	Effect	Δscore
11:118166887:CTA:C	donor_gain	1.0000
11:118167082:GGGCT:G	acceptor_gain	1.0000
11:118167083:GGCT:G	acceptor_gain	1.0000
11:118167085:CT:C	acceptor_gain	1.0000
11:118167087:C:CC	acceptor_gain	1.0000
11:118167087:CTG:C	acceptor_loss	1.0000
11:118167088:T:C	acceptor_loss	1.0000
11:118168081:TCACC:T	donor_loss	1.0000
11:118168082:CACC:C	donor_loss	1.0000
11:118168084:C:CT	donor_loss	1.0000
11:118168087:T:TA	donor_gain	1.0000
11:118168291:AGGAA:A	acceptor_gain	1.0000
11:118168292:GGAA:G	acceptor_gain	1.0000
11:118168293:GAA:G	acceptor_gain	1.0000
11:118168294:AA:A	acceptor_gain	1.0000
11:118168296:C:CC	acceptor_gain	1.0000
11:118168302:T:C	acceptor_gain	1.0000
11:118168302:T:TC	acceptor_gain	1.0000
11:118168308:C:CT	acceptor_gain	1.0000
11:118168309:A:T	acceptor_gain	1.0000
11:118168578:GACTC:G	donor_loss	1.0000
11:118168579:ACTCA:A	donor_loss	1.0000
11:118168580:CTCA:C	donor_loss	1.0000
11:118168583:A:AC	donor_gain	1.0000
11:118168583:A:AT	donor_loss	1.0000
11:118168583:AC:A	donor_gain	1.0000
11:118168584:C:CC	donor_gain	1.0000
11:118168584:CC:C	donor_gain	1.0000
11:118168584:CCAT:C	donor_gain	1.0000
11:118168747:TGGCA:T	acceptor_gain	1.0000

AlphaMissense

1428 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:118167033:C:G	G168R	0.999
11:118168152:G:C	C127W	0.999
11:118168154:A:G	C127R	0.999
11:118168160:A:C	Y125D	0.999
11:118168166:C:A	G123W	0.999
11:118168621:C:A	W67C	0.999
11:118168621:C:G	W67C	0.999
11:118168623:A:G	W67R	0.999
11:118168623:A:T	W67R	0.999
11:118168672:G:C	C50W	0.999
11:118167023:G:T	A171D	0.998
11:118167032:C:T	G168D	0.998
11:118167035:C:T	G167E	0.998
11:118167038:A:T	V166D	0.998
11:118167047:C:T	G163D	0.998
11:118168153:C:G	C127S	0.998
11:118168153:C:T	C127Y	0.998
11:118168154:A:T	C127S	0.998
11:118168165:C:T	G123E	0.998
11:118168226:C:A	G103W	0.998
11:118168240:C:G	R98P	0.998
11:118168622:C:G	W67S	0.998
11:118168628:A:G	L65P	0.998
11:118168661:G:A	S54F	0.998
11:118168673:C:G	C50S	0.998
11:118168673:C:T	C50Y	0.998
11:118168674:A:G	C50R	0.998
11:118168674:A:T	C50S	0.998
11:118167036:C:G	G167R	0.997
11:118167036:C:T	G167R	0.997

dbSNP variants (sampled 300 via entrez): RS1000013193 (11:118171748 C>G,T), RS1000073396 (11:118172500 C>G), RS1000118650 (11:118172265 T>C), RS1000159052 (11:118169900 T>C), RS1000229168 (11:118169641 C>T), RS1000374006 (11:118174829 A>G), RS1000745230 (11:118175032 C>T), RS1000801387 (11:118164091 A>G), RS1000841974 (11:118166677 G>A,T), RS1001128989 (11:118164262 G>A), RS1001163810 (11:118175097 G>A), RS1001251189 (11:118172386 G>A,C), RS1001325069 (11:118172654 C>T), RS1001476181 (11:118168495 CGCAGTGCCGGG>C), RS1001533757 (11:118164794 A>C)

Disease associations

OMIM: gene MIM:601327 | disease phenotypes: MIM:615378

GenCC curated gene-disease

Disease	Classification	Inheritance
atrial fibrillation, familial, 14	Moderate	Autosomal dominant
Brugada syndrome	Supportive	Autosomal dominant
familial atrial fibrillation	Supportive	Autosomal dominant
Brugada syndrome 1	Disputed Evidence	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
Brugada syndrome 1	Disputed	AD

Mondo (5): atrial fibrillation, familial, 14 (MONDO:0014156), dilated cardiomyopathy (MONDO:0005021), Brugada syndrome 1 (MONDO:0011001), Brugada syndrome (MONDO:0015263), familial atrial fibrillation (MONDO:0018054)

Orphanet (1): Dilated cardiomyopathy (Orphanet:217604)

HPO phenotypes

27 total (28 of 27 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000822	Hypertension
HP:0001279	Syncope
HP:0001649	Tachycardia
HP:0001658	Myocardial infarction
HP:0001663	Ventricular fibrillation
HP:0001695	Cardiac arrest
HP:0001727	Thromboembolic stroke
HP:0001907	Thromboembolism
HP:0001962	Palpitations
HP:0002094	Dyspnea
HP:0002321	Vertigo
HP:0003546	Exercise intolerance
HP:0003596	Middle age onset
HP:0004308	Ventricular arrhythmia
HP:0004751	Paroxysmal ventricular tachycardia
HP:0004755	Supraventricular tachycardia
HP:0004757	Paroxysmal atrial fibrillation
HP:0005110	Atrial fibrillation
HP:0011704	Sick sinus syndrome
HP:0011705	First degree atrioventricular block
HP:0011712	Complete right bundle branch block
HP:0011715	Trifascicular block
HP:0012248	Prolonged PR interval
HP:0012251	ST segment elevation
HP:0012378	Fatigue
HP:0100749	Chest pain
HP:0001644	Dilated cardiomyopathy

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001949_9	Preeclampsia	9.000000e-06

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D053840	Brugada Syndrome	C14.280.067.322; C14.280.123.250; C16.320.100
D002311	Cardiomyopathy, Dilated	C14.280.195.160; C14.280.238.070; C16.320.488.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (5): CHEMBL4630760 (PROTEIN COMPLEX), CHEMBL4630762 (PROTEIN COMPLEX), CHEMBL4630763 (PROTEIN COMPLEX), CHEMBL4630765 (PROTEIN COMPLEX), CHEMBL5446 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

2 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 236 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL4633566	DS-1971	2	17
CHEMBL2325014	PF-05089771	2	219

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

48 potent at pChembl≥5 of 86 total, top 48 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.40	IC50	0.4	nM	CHEMBL3657855
9.22	IC50	0.6	nM	CHEMBL5094715
8.72	IC50	1.9	nM	CHEMBL2325622
7.97	IC50	10.6	nM	CHEMBL3657855
7.92	IC50	12	nM	CHEMBL4642571
7.89	IC50	13	nM	PF-05089771
7.85	IC50	14	nM	CHEMBL5288162
7.82	IC50	15	nM	CHEMBL5286433
7.77	IC50	17	nM	CHEMBL4632675
7.72	IC50	19	nM	CHEMBL5276801
7.66	IC50	21.7	nM	DS-1971
7.62	IC50	24	nM	CHEMBL4637488
7.61	IC50	24.5	nM	DS-1971
7.55	IC50	28	nM	CHEMBL4633573
7.55	IC50	28	nM	CHEMBL4642940
7.52	IC50	30	nM	CHEMBL4648397
7.51	IC50	31	nM	CHEMBL4639987
7.50	IC50	32	nM	CHEMBL5286829
7.47	IC50	34	nM	CHEMBL5270366
7.42	IC50	38	nM	CHEMBL5280425
7.40	IC50	40	nM	CHEMBL5284082
7.35	IC50	45	nM	CHEMBL4637909
7.29	IC50	51	nM	CHEMBL3657855
7.28	IC50	52	nM	CHEMBL5286125
7.24	IC50	58	nM	CHEMBL5285313
7.23	IC50	59	nM	CHEMBL5287784
7.22	IC50	60	nM	CHEMBL4645788
7.07	IC50	85	nM	CHEMBL5267728
7.06	IC50	87	nM	CHEMBL5269981
6.95	IC50	113	nM	CHEMBL4640756
6.75	IC50	180	nM	CHEMBL4642726
6.72	IC50	190	nM	CHEMBL5270710
6.72	IC50	190	nM	CHEMBL5276666
6.70	IC50	202	nM	CHEMBL5094715
6.58	IC50	260	nM	CHEMBL5283939
6.54	IC50	290	nM	CHEMBL4635030
6.48	IC50	330	nM	CHEMBL5273849
6.30	IC50	495	nM	CHEMBL4648771
6.26	IC50	551	nM	CHEMBL5094715
6.10	IC50	800	nM	CHEMBL4644497
6.07	IC50	860	nM	CHEMBL5277736
6.00	IC50	1000	nM	CHEMBL3609749
5.92	IC50	1200	nM	CHEMBL5284082
5.80	IC50	1600	nM	CHEMBL5276509
5.32	IC50	4800	nM	CHEMBL5286829
5.23	IC50	5900	nM	CHEMBL5282205
5.18	IC50	6600	nM	CHEMBL5286433
5.00	IC50	9900	nM	CHEMBL5267728

PubChem BioAssay actives

47 with measured affinity, of 133 total; 38 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
4-(1-adamantylmethoxy)-N-(azetidin-1-ylsulfonyl)-5-cyclopropyl-2-fluorobenzamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0004	uM
5-cyclopropyl-4-[[1-[(1S)-1-(3,5-dichlorophenyl)ethyl]piperidin-4-yl]methoxy]-2-fluoro-N-methylsulfonylbenzamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0006	uM
4-[4-chloro-2-[2-(1-methylazetidin-3-yl)pyrazol-3-yl]phenoxy]-2,5-difluoro-N-(1,2,4-thiadiazol-5-yl)benzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.0019	uM
2,5-difluoro-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cyclohexyl]oxy-N-(1,2,4-thiadiazol-5-yl)benzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.0120	uM
4-[2-(5-amino-1H-pyrazol-4-yl)-4-chlorophenoxy]-5-chloro-2-fluoro-N-(1,3-thiazol-4-yl)benzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.0130	uM
6-fluoro-1-(3-fluorophenyl)-3-methyl-N-methylsulfonylindole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0140	uM
N-cyclopropylsulfonyl-3-methyl-1-[5-(trifluoromethyl)-3-pyridinyl]indole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0150	uM
2,5-difluoro-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cyclopentyl]oxy-N-(1,2,4-thiadiazol-5-yl)benzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.0170	uM
6-fluoro-3-methyl-N-methylsulfonyl-1-[3-(trifluoromethyl)phenyl]indole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0190	uM
5-chloro-2-fluoro-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cyclohexyl]oxy-N-pyrimidin-4-ylbenzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.0217	uM
2-fluoro-5-methyl-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cyclopentyl]oxy-N-pyrimidin-4-ylbenzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.0240	uM
2,5-difluoro-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cyclopentyl]oxy-N-(1,3-thiazol-2-yl)benzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.0280	uM
2,6-difluoro-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cycloheptyl]oxy-N-pyrimidin-4-ylbenzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.0280	uM
2,6-difluoro-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cyclohexyl]oxy-N-pyrimidin-4-ylbenzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.0300	uM
2-fluoro-5-methyl-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cyclohexyl]oxy-N-pyrimidin-4-ylbenzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.0310	uM
N-cyclopropylsulfonyl-1-(3-fluorophenyl)-3-methylindole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0320	uM
3-methyl-N-methylsulfonyl-1-[3-(trifluoromethyl)phenyl]indole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0340	uM
1-(3-fluorophenyl)-3-methyl-N-methylsulfonylindole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0380	uM
N-cyclopropylsulfonyl-6-fluoro-3-methyl-1-[5-(trifluoromethyl)-3-pyridinyl]indole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0400	uM
5-chloro-2-fluoro-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cyclopentyl]oxy-N-pyrimidin-4-ylbenzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.0450	uM
5-chloro-4-[(5-chloro-6-cyclopropyl-3-pyridinyl)oxy]-2-fluoro-N-methylsulfonylbenzamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0520	uM
3-methyl-1-(3-methylphenyl)-N-methylsulfonylindole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0580	uM
N-cyclopropylsulfonyl-3-methyl-1-[6-(trifluoromethyl)-3-pyridinyl]indole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0590	uM
2,6-difluoro-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cyclopentyl]oxy-N-pyrimidin-4-ylbenzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.0600	uM
1-(5-chloro-3-pyridinyl)-N-cyclopropylsulfonyl-3-methylindole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0850	uM
1-(3-chlorophenyl)-3-methyl-N-methylsulfonylindole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.0870	uM
2,5-difluoro-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cyclohexyl]oxy-N-pyrimidin-4-ylbenzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.1130	uM
2,5-difluoro-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cyclopentyl]oxy-N-pyrimidin-4-ylbenzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.1800	uM
1-(3-methoxyphenyl)-3-methyl-N-methylsulfonylindole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.1900	uM
1-(4-fluorophenyl)-3-methyl-N-methylsulfonylindole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.1900	uM
1-(4-chlorophenyl)-3-methyl-N-methylsulfonylindole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.2600	uM
2,5-difluoro-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cyclohexyl]oxy-N-(1,3-thiazol-4-yl)benzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.2900	uM
3-methyl-N-methylsulfonyl-1-phenylindole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.3300	uM
2,3-difluoro-4-[(1S,2R)-2-(2-methylpyrazol-3-yl)cyclopentyl]oxy-N-pyrimidin-4-ylbenzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.4950	uM
2,5-difluoro-4-[2-(2-methylpyrazol-3-yl)ethoxy]-N-(1,2,4-thiadiazol-5-yl)benzenesulfonamide	1662959: Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	ic50	0.8000	uM
N-cyclopropylsulfonyl-1-(5-fluoro-3-pyridinyl)-3-methylindole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	0.8600	uM
N-cyclopropylsulfonyl-3-methyl-1-pyridin-3-ylindole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	1.6000	uM
1-(2-fluorophenyl)-3-methyl-N-methylsulfonylindole-5-carboxamide	1948697: Inhibition of human Nav1.7/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	ic50	5.9000	uM

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Doxorubicin	decreases expression	3
Valproic Acid	affects cotreatment, increases expression	3
Benzo(a)pyrene	increases methylation, increases mutagenesis, affects methylation	2
Daunorubicin	decreases expression	2
Mitoxantrone	decreases expression	2
uranyl acetate	affects expression	1
trichostatin A	increases expression	1
arsenite	increases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
2,2’,4,4’,5-brominated diphenyl ether	decreases expression	1
2,3,5,6-tetrafluoro-4-methylbenzyl (Z)-(1RS)-cis-3-(2-chloro-3,3,3-trifluoroprop-1-enyl)-2,2-dimethylcyclopropanecarboxylate	affects cotreatment, decreases reaction, increases transport	1
quinocetone	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Sunitinib	decreases expression	1
Panobinostat	affects cotreatment, affects expression	1
Cisplatin	affects cotreatment, affects expression	1
Fluorouracil	affects expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Sodium	affects cotreatment, decreases reaction, increases transport	1
Tobacco Smoke Pollution	decreases expression	1
Uranium	affects expression	1
Urethane	decreases expression	1
Sodium Selenite	decreases expression	1
Antirheumatic Agents	increases expression	1
Okadaic Acid	increases expression	1

ChEMBL screening assays

9 unique, capped per target: 4 admet, 3 binding, 2 toxicity

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4623818	ADMET	Inhibition of human NaV1.1/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	Discovery of DS-1971a, a Potent, Selective NaV1.7 Inhibitor. — J Med Chem
CHEMBL5252387	Toxicity	Inhibition of human Nav1.1/beta1/2 transfected in HEK293-A cells assessed as inhibition of channel current incubated for 5.5 mins by high-throughput electrophysiology system analysis	N-Aryl Indoles as a Novel Class of Potent NaV1.7 Inhibitors. — ACS Med Chem Lett
CHEMBL4623820	Binding	Inhibition of human NaV1.7/beta1/beta2 expressed in HEK293A cells by Ionworks high-throughput electrophysiology method	Discovery of DS-1971a, a Potent, Selective NaV1.7 Inhibitor. — J Med Chem

Cellosaurus cell lines

3 cell lines: 3 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_WS18	HEK293 SCN1A/SCN1B/SCN2B	Transformed cell line	Female
CVCL_YA78	IDG-HEK293T-SCN2B-V5-OE	Transformed cell line	Female
CVCL_YN15	HEK-293 hNav1.9	Transformed cell line	Female

Clinical trials (associated diseases)

202 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00702117	PHASE4	COMPLETED	Ajmaline Utilization in the Diagnosis and Treatment of Cardiac Arrhythmias
NCT00374465	PHASE4	UNKNOWN	Therapy With Verapamil or Carvedilol in Chronic Heart Failure
NCT01293903	PHASE4	COMPLETED	Study of Qiliqiangxin Capsule to Treat Dilated Cardiomyopathy
NCT01557140	PHASE4	COMPLETED	A Randomized Trial of Carvedilol in Chronic Chagas Cardiomyopathy
NCT01917149	PHASE4	COMPLETED	Supramaximal Titrated Inhibition of RAAS in Dilated Cardiomyopathy
NCT02115581	PHASE4	COMPLETED	Coenzyme Q10 Supplementation in Children With Idiopathic Dilated Cardiomyopathy
NCT06236022	PHASE4	RECRUITING	The Effects of Sirolimus in Patients With Dilated Cardiomyopathy Infected With Kaposi Sarcoma-associated Virus
NCT00701077	PHASE3	TERMINATED	DAPERB 3,4-DiAminoPyridine and Electrophysiological Response in Brugada Syndrome
NCT00927732	PHASE3	TERMINATED	Hydroquinidine Versus Placebo in Patients With Brugada Syndrome
NCT00333827	PHASE3	COMPLETED	Cell Therapy In Dilated Cardiomyopathy
NCT00505154	PHASE3	COMPLETED	Effect of Rosuvastatin on Left Ventricular Remodeling
NCT01223703	PHASE3	COMPLETED	PUFAs and Left Ventricular Function in Heart Failure
NCT01583114	PHASE3	TERMINATED	PREclinical Mutation CARriers From Families With DIlated Cardiomyopathy and ACE Inhibitors
NCT01914081	PHASE3	UNKNOWN	Resveratrol: A Potential Anti- Remodeling Agent in Heart Failure, From Bench to Bedside
NCT02989181	PHASE3	UNKNOWN	Continues Positive Airway Pressure Treatment for Patients With Dilated Cardiomyopathy and Obstructive Sleep Apnea
NCT03439514	PHASE3	TERMINATED	A Study of ARRY-371797 (PF-07265803) in Patients With Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation
NCT05237323	PHASE3	COMPLETED	Micophenolate Mofetil Versus Azathioprine in Myocarditis
NCT05849766	PHASE3	COMPLETED	Effect of Dapagliflozin on Cardiac Structure, Function and Secondary Mitral Regurgitation in Patients with Left Ventricle Dysfunction
NCT06250257	PHASE3	RECRUITING	Bromocriptine in Dilated Cardiomyopathy Among Women of Reproductive Age
NCT02933437	PHASE2	UNKNOWN	The Response To Ajmaline Provocation in Healthy Subjects
NCT07146880	PHASE2	NOT_YET_RECRUITING	Empagliflozin as a Potential Therapeutic Solution for Patients With Brugada Syndrome
NCT00629018	PHASE2	COMPLETED	Safety and Efficacy Study of Stem Cell Transplantation to Treat Dilated Cardiomyopathy
NCT00629096	PHASE2	COMPLETED	Intracoronary Infusion of Autologous Bone Marrow Cells for Treatment of Idiopathic Dilated Cardiomyopathy
NCT00765518	PHASE2	COMPLETED	Use of Ixmyelocel-T (Formerly Cardiac Repair Cell [CRC] Treatment) in Patients With Heart Failure Due to Dilated Cardiomyopathy (IMPACT-DCM)
NCT00847964	PHASE2	COMPLETED	Safety and Feasibility of Algisyl-LVR™ as a Method of Left Ventricular Restoration in Patients With DCM Undergoing Open-heart Surgery
NCT01020968	PHASE2	COMPLETED	Use of Ixmyelocel-T (Formerly Catheter-based Cardiac Repair Cell [CRC]) Treatment in Patients With Heart Failure Due to Dilated Cardiomyopathy
NCT01302171	PHASE2	COMPLETED	Bone Marrow Derived Adult Stem Cells for Dilated Cardiomyopathy
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