SCN3B
entrez
55800
canonical
uniprot
Q9NY72
canonical
ensembl
ENSG00000166257
resolver
ensp
ENSP00000299333
resolver
ensp
ENSP00000376523
resolver
ensp
ENSP00000432785
resolver
ensp
ENSP00000499439
resolver
ensp
ENSP00000499755
resolver
ensp
ENSP00000521440
resolver
ensp
ENSP00000521441
resolver
ensp
ENSP00000521444
resolver
ensp
ENSP00000620757
resolver
enst
ENST00000299333
resolver
enst
ENST00000392770
resolver
enst
ENST00000530277
resolver
enst
ENST00000657123
resolver
enst
ENST00000657191
resolver
enst
ENST00000851381
resolver
enst
ENST00000851382
resolver
enst
ENST00000851385
resolver
enst
ENST00000950698
resolver
genesymbol
SCN3B
resolver
genesymbol_syn
KIAA1158
resolver
hgnc
HGNC:20665
resolver
uniprot
A5H1I5
resolver
uniprot
Q17RL3
resolver
uniprot
Q9ULR2
resolver
uniprot_entry
SCN3B_HUMAN
resolver
uniprot_sec
A5H1I5
resolver
uniprot_sec
Q17RL3
resolver
uniprot_sec
Q9ULR2
resolver
amino_acid_sequence
MPAFNRLFPLASLVLIYWVSVCFPVCVEVPSETEAVQGNPMKLRCISCMKREEVEATTVVEWFYRPEGGKDFLIYEYRNGHQEVESPFQGRLQWNGSKDLQDVSITVLNVTLNDSGLYTCNVSREFEFEAHRPFVKTTRLIPLRVTEEAGEDFTSVVSEIMMYILLVFLTLWLLIEMIYCYRKVSKAEEAAQENASDYLAIPSENKENSAVPVEE
uniprot
proteins
disease_involvement
DISEASE: Brugada syndrome 7 (BRGDA7) [MIM:613120]: A tachyarrhythmia 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. {ECO:0000269|PubMed:20031595}. Note=The gene represented in this entry may be involved in disease pathogenesis.; DISEASE: Atrial fibrillation, familial, 16 (ATFB16) [MIM:613120]: 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. {ECO:0000269|PubMed:20558140, ECO:0000269|PubMed:21051419}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na+ ions provokes membrane depolarization, initiating the propagation of electrical signals throughout cells and tissues. The accessory beta subunits participate in localization and functional modulation of the Nav channels (PubMed:20558140, PubMed:21051419). Modulates the activity of SCN2A/Nav1.2, causing a hyperpolarizing shift in the voltage-dependence of inactivation of the channel and increasing the fraction of channels operating in the fast gating mode (By similarity). Modulates the activity of SCN5A/Nav1.5 (PubMed:20558140, PubMed:21051419, PubMed:24567321, PubMed:31950564). Could also regulate the atypical sodium channel SCN7A/Nav2.1 (PubMed:35301303). Modulates the activity of SCN10A/Nav1.8, regulating its oligomerization and accelerating the recovery from inactivation (PubMed:14975698). {ECO:0000250|UniProtKB:Q9JK00, ECO:0000269|PubMed:14975698, ECO:0000269|PubMed:20558140, ECO:0000269|PubMed:21051419, ECO:0000269|PubMed:24567321, ECO:0000269|PubMed:31950564, ECO:0000269|PubMed:35301303}.
uniprot
proteins
mass_dalton
24702
uniprot
proteins
mutagenesis
MUTAGEN 48; /note="C->A: Decreased voltage-gated sodium channel oligomeric complex assembly."; /evidence="ECO:0000269|PubMed:24567321
uniprot
proteins
post_translational_modification
PTM: Intramolecular disulfide bonds favor the voltage-gated sodium channel oligomeric complex assembly. {ECO:0000269|PubMed:24567321}.; PTM: N-glycosylated. {ECO:0000269|PubMed:24567321}.
uniprot
proteins
protein_family
Sodium channel auxiliary subunit SCN3B (TC 8.A.17) family
uniprot
proteins
pubmed
10574461
uniprot
proteins
pubmed
10688874
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14975698
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
20031595
uniprot
proteins
pubmed
20042427
uniprot
proteins
pubmed
20558140
uniprot
proteins
pubmed
21051419
uniprot
proteins
pubmed
24567321
uniprot
proteins
pubmed
31950564
uniprot
proteins
pubmed
35301303
uniprot
proteins
sequence_length
215
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24567321}; Single-pass type I membrane protein {ECO:0000305|PubMed:35301303}.
uniprot
proteins
transmembrane_region
TRANSMEM 157..178; /note="Helical"; /evidence="ECO:0000305|PubMed:35301303, ECO:0007744|PDB:7TJ8
uniprot
proteins