SCN2B

Chr 11AD

sodium voltage-gated channel beta subunit 2

Also known as: ATFB14

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. [provided by RefSeq, Jul 2015]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Atrial fibrillation, familial, 14MIM #615378
AD

Clinical highlights

Gene-disease validity (ClinGen)
Brugada syndrome 1 · ADDisputedevidence questions this relationship
0
Active trials
6
Pubs (1 yr)
P/LP submissions
P/LP missense
1.40
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — SCN2B
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?
1.40LOEUF
pLI 0.002
Z-score 0.83
OE 0.67 (0.351.40)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.32Z-score
OE missense 0.92 (0.791.07)
120 obs / 130.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.67 (0.351.40)
00.351.4
Missense OE?0.92 (0.791.07)
00.61.4
Synonymous OE?1.13
01.21.6
LoF obs/exp: 5 / 7.4Missense obs/exp: 120 / 130.2Syn Z: -0.76

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SCN2B · 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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