• Gene id: 6330

Gene Summary

• Gene Symbol: SCN4B   Gene   UCSC   Ensembl
• Aliases: ATFB17, LQT10, Navbeta4
• Gene name: sodium voltage-gated channel beta subunit 4
• Alternate names: sodium channel subunit beta-4, sodium channel, voltage-gated, type IV, beta subunit,
• Gene location: 11q23.3 (118152822: 118133376)     Exons: 5     NC_000011.10
• Gene summary(Entrez): 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. De
• OMIM: 600438

Protein Summary

• Protein general information: Q8IWT1  
  • Name: Sodium channel subunit beta 4
  • Length: 228  
  • Mass: 24969
  • Tissue specificity: Expressed at a high level in dorsal root ganglia, at a lower level in brain, spinal cord, skeletal muscle and heart. Expressed in the atrium. {ECO
• Sequence:

  MPGAGDGGKAPARWLGTGLLGLFLLPVTLSLEVSVGKATDIYAVNGTEILLPCTFSSCFGFEDLHFRWTYNSSDA
  FKILIEGTVKNEKSDPKVTLKDDDRITLVGSTKEKMNNISIVLRDLEFSDTGKYTCHVKNPKENNLQHHATIFLQ
  VVDRLEEVDNTVTLIILAVVGGVIGLLILILLIKKLIIFILKKTREKKKECLVSSSGNDNTENGLPGSKAEEKPP
  SKV

• Structural information:
  • Protein Domains: (31..14-)
    (/note="Ig-like-C2-type")
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003599  IPR013106   IPR000920  
  • Prosite: PS50835
  • PDB: 4MZ2 4MZ3 5XAW
  • PDBsum: 4MZ2 4MZ3 5XAW
  • STRING: ENSP00000322460
• Other Databases: GeneCards:  SCN4B  Malacards:  SCN4B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000649	regulation of sodium ion transmembrane transporter activity	IDA	biological process
GO:0031226	intrinsic component of plasma membrane	IDA	cellular component
GO:0017080	sodium channel regulator activity	IDA	molecular function
GO:0001518	voltage-gated sodium channel complex	IMP	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0005272	sodium channel activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0014704	intercalated disc	IEA	cellular component
GO:0005248	voltage-gated sodium channel activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0044325	ion channel binding	IPI	molecular function
GO:0086006	voltage-gated sodium channel activity involved in cardiac muscle cell action potential	IMP	molecular function
GO:0017080	sodium channel regulator activity	IDA	molecular function
GO:0001518	voltage-gated sodium channel complex	IDA	cellular component
GO:0010765	positive regulation of sodium ion transport	IDA	biological process
GO:0035725	sodium ion transmembrane transport	IDA	biological process
GO:2000649	regulation of sodium ion transmembrane transporter activity	IDA	biological process
GO:0014704	intercalated disc	ISS	cellular component
GO:0086002	cardiac muscle cell action potential involved in contraction	IMP	biological process
GO:0086012	membrane depolarization during cardiac muscle cell action potential	IMP	biological process
GO:0060048	cardiac muscle contraction	IMP	biological process
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization	IMP	biological process
GO:0086016	AV node cell action potential	IMP	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005248	voltage-gated sodium channel activity	IDA	molecular function
GO:0001518	voltage-gated sodium channel complex	IDA	cellular component
GO:0006814	sodium ion transport	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04261	Adrenergic signaling in cardiomyocytes

Diseases

Associated diseases	References
Long QT syndrome	KEGG:H00720
Atrial fibrillation	KEGG:H00731
Long QT syndrome	KEGG:H00720
Atrial fibrillation	KEGG:H00731
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881