SCN3B

Chr 11AD

sodium voltage-gated channel beta subunit 3

Also known as: ATFB16, BRGDA7, HSA243396, SCNB3

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel beta subunit gene family, and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Atrial fibrillation, familial, 16MIM #613120
AD
Brugada syndrome 7MIM #613120
AD

Clinical highlights

Gene-disease validity (ClinGen)
Brugada syndrome · ADRefutedevidence has disproved this relationship2 gene-disease associations curated in total
0
Active trials
10
Pubs (1 yr)
P/LP submissions
P/LP missense
0.80
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — SCN3B
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.80LOEUF
pLI 0.051
Z-score 2.04
OE 0.35 (0.170.80)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.79Z-score
OE missense 0.80 (0.680.94)
100 obs / 125.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.35 (0.170.80)
00.351.4
Missense OE?0.80 (0.680.94)
00.61.4
Synonymous OE?0.99
01.21.6
LoF obs/exp: 4 / 11.4Missense obs/exp: 100 / 125.0Syn Z: 0.07

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SCN3B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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