• Gene id: 6327

Gene Summary

• Gene Symbol: SCN2B   Gene   UCSC   Ensembl
• Aliases: ATFB14
• Gene name: sodium voltage-gated channel beta subunit 2
• Alternate names: sodium channel subunit beta-2, neuronal voltage-gated sodium channel beta 2 subunit, sodium channel, voltage gated, type II beta subunit, sodium channel, voltage-gated, type II, beta polypeptide,
• Gene location: 11q23.3 (118176638: 118162805)     Exons: 4     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 606967

Protein Summary

• Protein general information: O60939  
  • Name: Sodium channel subunit beta 2
  • Length: 215  
  • Mass: 24326
  • Tissue specificity: Brain specific.
• Sequence:

  MHRDAWLPRPAFSLTGLSLFFSLVPPGRSMEVTVPATLNVLNGSDARLPCTFNSCYTVNHKQFSLNWTYQECNNC
  SEEMFLQFRMKIINLKLERFQDRVEFSGNPSKYDVSVMLRNVQPEDEGIYNCYIMNPPDRHRGHGKIHLQVLMEE
  PPERDSTVAVIVGASVGGFLAVVILVLMVVKCVRRKKEQKLSTDDLKTEEEGKTDGEGNPDDGAK

• Structural information:
  • Protein Domains: (32..15-)
    (/note="Ig-like-C2-type")
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003599  IPR013106   IPR000920  IPR029873  
  • Prosite: PS50835
  • PDB: 5FDY 5FEB 6J8E 6J8G 6J8H 6J8I 6J8J
  • PDBsum: 5FDY 5FEB 6J8E 6J8G 6J8H 6J8I 6J8J
  • STRING: ENSP00000278947
• Other Databases: GeneCards:  SCN2B  Malacards:  SCN2B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001518	voltage-gated sodium channel complex	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0017080	sodium channel regulator activity	IEA	molecular function
GO:0005272	sodium channel activity	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0046684	response to pyrethroid	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0005248	voltage-gated sodium channel activity	IEA	molecular function
GO:0017080	sodium channel regulator activity	IDA	molecular function
GO:0086006	voltage-gated sodium channel activity involved in cardiac muscle cell action potential	IMP	molecular function
GO:0001518	voltage-gated sodium channel complex	IDA	cellular component
GO:0035725	sodium ion transmembrane transport	IDA	biological process
GO:2000649	regulation of sodium ion transmembrane transporter activity	IDA	biological process
GO:0060371	regulation of atrial cardiac muscle cell membrane depolarization	IMP	biological process
GO:0086002	cardiac muscle cell action potential involved in contraction	IMP	biological process
GO:0060048	cardiac muscle contraction	IMP	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0086012	membrane depolarization during cardiac muscle cell action potential	IMP	biological process
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0001518	voltage-gated sodium channel complex	TAS	cellular component

Diseases

Associated diseases	References
Atrial fibrillation	KEGG:H00731
Atrial fibrillation	KEGG:H00731
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R