SCN4B
entrez
6330
canonical
uniprot
Q8IWT1
canonical
ensembl
ENSG00000177098
resolver
ensp
ENSP00000322460
resolver
ensp
ENSP00000436343
resolver
genesymbol
SCN4B
resolver
hgnc
HGNC:10592
resolver
uniprot
B0YJ93
resolver
uniprot
E9PPT5
resolver
uniprot
Q6PIG5
resolver
uniprot_entry
B0YJ93_HUMAN
resolver
uniprot_entry
SCN4B_HUMAN
resolver
uniprot_sec
E9PPT5
resolver
uniprot_sec
Q6PIG5
resolver
amino_acid_sequence
MPGAGDGGKAPARWLGTGLLGLFLLPVTLSLEVSVGKATDIYAVNGTEILLPCTFSSCFGFEDLHFRWTYNSSDAFKILIEGTVKNEKSDPKVTLKDDDRITLVGSTKEKMNNISIVLRDLEFSDTGKYTCHVKNPKENNLQHHATIFLQVVDRLEEVDNTVTLIILAVVGGVIGLLILILLIKKLIIFILKKTREKKKECLVSSSGNDNTENGLPGSKAEEKPPSKV
uniprot
proteins
disease_involvement
DISEASE: Long QT syndrome 10 (LQT10) [MIM:611819]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269|PubMed:17592081}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Atrial fibrillation, familial, 17 (ATFB17) [MIM:611819]: 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:23604097}. 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:24297919). Modulates the activity of SCN1A/Nav1.1 (PubMed:33712547). Modulates the activity of SCN2A/Nav1.2 (PubMed:24297919). {ECO:0000269|PubMed:24297919, ECO:0000269|PubMed:33712547}.
uniprot
proteins
mass_dalton
24969
uniprot
proteins
mutagenesis
MUTAGEN 58; /note="C->A: Abolishes regulation of channel activity."; /evidence="ECO:0000269|PubMed:24297919"; MUTAGEN 131; /note="C->A,W: Decreases protein stability. Causes conformation changes that impair interaction with the alpha subunit."; /evidence="ECO:0000269|PubMed:24297919
uniprot
proteins
post_translational_modification
PTM: Contains an interchain disulfide bond with SCN2A.; PTM: N-glycosylated. {ECO:0000269|PubMed:24297919}.
uniprot
proteins
protein_family
Sodium channel auxiliary subunit SCN4B (TC 8.A.17) family
uniprot
proteins
pubmed
12930796
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
17592081
uniprot
proteins
pubmed
21051419
uniprot
proteins
pubmed
23604097
uniprot
proteins
pubmed
24297919
uniprot
proteins
pubmed
33712547
uniprot
proteins
sequence_length
228
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24297919}; Single-pass type I membrane protein {ECO:0000269|PubMed:24297919}.
uniprot
proteins
transmembrane_region
TRANSMEM 163..183; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins