Atrial fibrillation, familial, 16

disease

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Also known as ATFB16

Summary

Atrial fibrillation, familial, 16 (MONDO:0800349) is a disease with 1 cohort gene.

At a glance

Cohort genes: 1
ClinVar variants: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	atrial fibrillation, familial, 16
Mondo ID	MONDO:0800349
UMLS	C4013699
MedGen	862136
GARD	0026514
Is cancer (heuristic)	no

Also known as: ATFB16

Data availability: 4 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › heart disorder › cardiac rhythm disease › atrial fibrillation › familial atrial fibrillation › atrial fibrillation, familial, 16

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

4 retrieved; paginated sample, class counts are floors:

2 pathogenic, 1 uncertain significance, 1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
140598	NM_001040151.2(SCN3B):c.482T>C (p.Met161Thr)	SCN3B	Pathogenic	no assertion criteria provided
140599	NM_001040151.2(SCN3B):c.17G>A (p.Arg6Lys)	SCN3B	Pathogenic	no assertion criteria provided
2470	NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro)	SCN3B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
140597	NM_001040151.2(SCN3B):c.389C>T (p.Ala130Val)	SCN3B	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 2 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SCN3B	Orphanet:130	Brugada syndrome
SCN3B	Orphanet:334	Hereditary atrial fibrillation

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
SCN3B	HGNC:20665	ENSG00000166257	Q9NY72	Sodium channel regulatory subunit beta-3	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SCN3B	Sodium channel regulatory subunit beta-3	Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Antibody/Immunoglobulin	1	29.2×	0.034

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SCN3B	Antibody/Immunoglobulin	yes		Ig_sub, Ig-like_dom, Ig_V-set

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
cortical plate	1
middle temporal gyrus	1
orbitofrontal cortex	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SCN3B	193	broad	marker	middle temporal gyrus, orbitofrontal cortex, cortical plate

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SCN3B	2,219

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
SCN3B	Q9NY72	3

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 8. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Interaction between L1 and Ankyrins	1	368.4×	0.012	SCN3B
Phase 0 - rapid depolarisation	1	346.1×	0.012	SCN3B
L1CAM interactions	1	120.2×	0.018	SCN3B
Cardiac conduction	1	108.8×	0.018	SCN3B
Muscle contraction	1	77.2×	0.021	SCN3B
Axon guidance	1	45.1×	0.027	SCN3B
Nervous system development	1	42.9×	0.027	SCN3B
Developmental Biology	1	14.5×	0.069	SCN3B

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
regulation of ventricular cardiac muscle cell membrane depolarization	1	2808.7×	0.002	SCN3B
SA node cell action potential	1	2808.7×	0.002	SCN3B
regulation of atrial cardiac muscle cell membrane depolarization	1	1872.4×	0.002	SCN3B
membrane depolarization during action potential	1	1685.2×	0.002	SCN3B
atrial cardiac muscle cell action potential	1	1685.2×	0.002	SCN3B
membrane depolarization during cardiac muscle cell action potential	1	1404.3×	0.002	SCN3B
ventricular cardiac muscle cell action potential	1	991.3×	0.002	SCN3B
positive regulation of sodium ion transport	1	842.6×	0.002	SCN3B
positive regulation of heart rate	1	702.2×	0.002	SCN3B
cardiac muscle cell action potential involved in contraction	1	702.2×	0.002	SCN3B
membrane depolarization	1	510.7×	0.003	SCN3B
cardiac muscle contraction	1	401.2×	0.003	SCN3B
regulation of heart rate by cardiac conduction	1	374.5×	0.003	SCN3B
sodium ion transport	1	271.8×	0.004	SCN3B
sodium ion transmembrane transport	1	203.0×	0.006	SCN3B
protein localization to plasma membrane	1	108.7×	0.010	SCN3B
nervous system development	1	45.9×	0.022	SCN3B

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
SCN3B	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	1	SCN3B
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
SCN3B	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: SCN3B