SCN4B
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| sodium voltage-gated channel beta subunit 4 | MIM:608256 | Ensembl:ENSG00000177098 | HGNC:HGNC:10592 | PA35007 | 11q23.3 |
GO terms in SCN4B
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IDA | GO:0006814 | sodium ion transport |
| BP | IDA | GO:0010765 | positive regulation of sodium ion transport |
| BP | IDA | GO:0035725 | sodium ion transmembrane transport |
| BP | IMP | GO:0060048 | cardiac muscle contraction |
| BP | IMP | GO:0060307 | regulation of ventricular cardiac muscle cell membrane repolarization |
| BP | IMP | GO:0086002 | cardiac muscle cell action potential involved in contraction |
| BP | IMP | GO:0086012 | membrane depolarization during cardiac muscle cell action potential |
| BP | IMP | GO:0086016 | AV node cell action potential |
| BP | IMP | GO:0086091 | regulation of heart rate by cardiac conduction |
| BP | IDA | GO:2000649 | regulation of sodium ion transmembrane transporter activity |
| CC | IDA | GO:0001518 | voltage-gated sodium channel complex |
| CC | IMP | GO:0001518 | voltage-gated sodium channel complex |
| CC | ISS | GO:0014704 | intercalated disc |
| CC | IDA | GO:0031226 | intrinsic component of plasma membrane |
| MF | IEA | GO:0005244 | voltage-gated ion channel activity |
| MF | IDA | GO:0005248 | voltage-gated sodium channel activity |
| MF | IDA | GO:0017080 | sodium channel regulator activity |
| MF | IPI | GO:0044325 | ion channel binding |
| MF | IMP | GO:0086006 | voltage-gated sodium channel activity involved in cardiac muscle cell action potential |
Gene expression in normal tissue: SCN4B
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SCN4B
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-373760 | L1CAM interactions |
| reactome | R-HSA-397014 | Muscle contraction |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-445095 | Interaction between L1 and Ankyrins |
| reactome | R-HSA-5576891 | Cardiac conduction |
| reactome | R-HSA-5576892 | Phase 0 - rapid depolarisation |
| pharmgkb | PA2033 | Antiarrhythmic Pathway, Pharmacodynamics |
| kegg | hsa04261 | Adrenergic signaling in cardiomyocytes - Homo sapiens (human) |
| wikipathways | WP706 | Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SCN4B
CLASSFICATION
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