SCN4B

Protein identityUniProt · HPA

UniProt accession

Q8IWT1

Gene

SCN4B

Ensembl

ENSG00000177098

Chromosome

11

Canonical length

228 aa

Protein class

Disease related genes, FDA approved drug targets, Human disease related genes, Predicted membrane proteins, Transporters

OverviewNCBI Gene

The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. Defects in this gene are a cause of long QT syndrome type 10 (LQT10). Three protein-coding and one non-coding transcript variant have been found for this gene.[provided by RefSeq, Mar 2009]

Canonical amino-acid sequenceUniProt

228 residues, UniProt reviewed canonical sequence.

>Q8IWT1|SCN4B
     1  MPGAGDGGKA PARWLGTGLL GLFLLPVTLS LEVSVGKATD IYAVNGTEIL LPCTFSSCFG
    61  FEDLHFRWTY NSSDAFKILI EGTVKNEKSD PKVTLKDDDR ITLVGSTKEK MNNISIVLRD
   121  LEFSDTGKYT CHVKNPKENN LQHHATIFLQ VVDRLEEVDN TVTLIILAVV GGVIGLLILI
   181  LLIKKLIIFI LKKTREKKKE CLVSSSGNDN TENGLPGSKA EEKPPSKV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SCN4B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.45

Highest tissue expression

53 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SCN4B.

Disease | AllUniProt

Conditions SCN4B is implicated in, by any mechanism.

• Long QT syndrome 10 (LQT10) MIM:611819
• Atrial fibrillation, familial, 17 (ATFB17) MIM:611819

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 325 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Atrial fibrillation, familial, 17

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.78

gnomAD pLI

0

gnomAD missense Z

-0.18

DepMap mean gene effect

0.02

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• AV node cell action potential
• cardiac conduction
• cardiac muscle cell action potential involved in contraction
• cardiac muscle contraction
• establishment of localization in cell
• membrane depolarization during cardiac muscle cell action potential
• neuronal action potential
• positive regulation of sodium ion transport
• regulation of heart rate by cardiac conduction
• regulation of ventricular cardiac muscle cell membrane repolarization
• sodium ion transmembrane transport
• sodium ion transport

Molecular functions

• sodium channel regulator activity
• transmembrane transporter binding
• voltage-gated sodium channel activity
• voltage-gated sodium channel activity involved in cardiac muscle cell action potential

Cellular components

• intercalated disc
• plasma membrane
• voltage-gated sodium channel complex

Protein domainsUniProt · Pfam · InterPro

• Myelin P0 protein-related
• Immunoglobulin domain subtype
• Immunoglobulin-like domain
• Immunoglobulin V-set domain
• Immunoglobulin-like fold
• Immunoglobulin-like domain superfamily
• Immunoglobulin V-set domain

KeywordsUniProt

• Atrial fibrillation
• Cell membrane
• Disulfide bond
• Glycoprotein
• Immunoglobulin domain
• Ion transport
• Long QT syndrome
• Membrane
• Signal
• Sodium
• Sodium transport
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of SCN4B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SCN1A
• SCN2A