SCN2B_HUMAN » Sodium channel subunit beta-2

SCN2B_HUMAN » Sodium channel subunit beta-2
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
SCN2B_HUMAN » Sodium channel subunit beta-2 »
Hydrophobic Thickness 34.8 ± 5.2 Å
Tilt Angle 27 ± 2°
ΔGtransfer -23.3 kcal/mol
ΔGfold -20.0 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC, HMDB
Topology Out
TM Segments 158-183 (154-189)
Pathways

Developmental Biology (Reactome)

PDB none
OPM none
Complexes none
Interactions

SCN1B, Complex: SCN1B:SCN2B, PubMed

Domains

AA: 33-147, PDBID: 4FRW, Subunit B, Seq Identity:25%, Immunoglobulin V-set domain

UniProt annotation for SCN2B_HUMAN » Sodium channel subunit beta-2
FUNCTION: Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-2 causes an increase in the plasma membrane surface area and in its folding into microvilli. Interacts with TNR may play a crucial role in clustering and regulation of activity of sodium channels at nodes of Ranvier (By similarity).

SUBUNIT: The voltage-sensitive sodium channel consists of an ion conducting pore forming alpha-subunit regulated by one or more beta-1, beta-2, beta-3 and/or beta-4 subunits. Beta-1 and beta-3 are non-covalently associated with alpha, while beta-2 and beta-4 are covalently linked by disulfide bonds (By similarity).

TISSUE SPECIFICITY: Brain specific.

DISEASE: Atrial fibrillation, familial, 14 (ATFB14) OMIM: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. mutations affecting the gene represented in this entry.

DISEASE: Note=Genetic variations in SCN2B may be involved in Brugada syndrome (PubMed). This tachyarrhythmia is characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.

UniProt features for SCN2B_HUMAN » Sodium channel subunit beta-2
SIGNAL 1 29 By similarity.
CHAIN 30 215 Sodium channel subunit beta-2.
DOMAIN 32 154 Ig-like C2-type.
DISULFID 50 127
DISULFID 55 55 Interchain; with alpha subunit.
Amino Acid Sequence for SCN2B_HUMAN » Sodium channel subunit beta-2
MHRDAWLPRP AFSLTGLSLF FSLVPPGRSM EVTVPATLNV LNGSDARLPC TFNSCYTVNH KQFSLNWTYQ ECNNCSEEMF LQFRMKIINL KLERFQDRVE FSGNPSKYDV SVMLRNVQPE DEGIYNCYIM NPPDRHRGHG KIHLQVLMEE PPERDSTVAV IVGASVGGFL AVVILVLMVV KCVRRKKEQK LSTDDLKTEE EGKTDGEGNP DDGAK