SCN2B
entrez
6327
canonical
uniprot
O60939
canonical
ensembl
ENSG00000149575
resolver
ensp
ENSP00000278947
resolver
enst
ENST00000278947
resolver
genesymbol
SCN2B
resolver
hgnc
HGNC:10589
resolver
uniprot
O75302
resolver
uniprot
Q5U0K8
resolver
uniprot
Q9UNN3
resolver
uniprot_entry
Q5U0K8_HUMAN
resolver
uniprot_entry
SCN2B_HUMAN
resolver
uniprot_sec
O75302
resolver
uniprot_sec
Q9UNN3
resolver
amino_acid_sequence
MHRDAWLPRPAFSLTGLSLFFSLVPPGRSMEVTVPATLNVLNGSDARLPCTFNSCYTVNHKQFSLNWTYQECNNCSEEMFLQFRMKIINLKLERFQDRVEFSGNPSKYDVSVMLRNVQPEDEGIYNCYIMNPPDRHRGHGKIHLQVLMEEPPERDSTVAVIVGASVGGFLAVVILVLMVVKCVRRKKEQKLSTDDLKTEEEGKTDGEGNPDDGAK
uniprot
proteins
disease_involvement
DISEASE: Atrial fibrillation, familial, 14 (ATFB14) [MIM:615378]: 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:19808477}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Genetic variations in SCN2B may be involved in Brugada syndrome (PubMed:23559163). 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. {ECO:0000269|PubMed:23559163}.
uniprot
proteins
function
FUNCTION: Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes (PubMed:19808477, PubMed:23559163, PubMed:26894959, PubMed:30765605, PubMed:30765606, PubMed:35277491, PubMed:36823201). 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 (PubMed:19808477, PubMed:23559163, PubMed:26894959). The accessory beta subunits participate in localization and functional modulation of the Nav channels (PubMed:19808477, PubMed:23559163). Modulates the activity of SCN1A/Nav1.1, SCN2A/Nav1.2, SCN2A/Nav1.3, SCN5A/Nav1.5, SCN8A/Nav1.6, SCN9A/Nav1.7 and SCN10A/Nav1.8 (PubMed:19808477, PubMed:23559163, PubMed:26894959, PubMed:30765605, PubMed:30765606, PubMed:35277491, PubMed:36823201). {ECO:0000269|PubMed:19808477, ECO:0000269|PubMed:23559163, ECO:0000269|PubMed:26894959, ECO:0000269|PubMed:30765605, ECO:0000269|PubMed:30765606, ECO:0000269|PubMed:35277491, ECO:0000269|PubMed:36823201}.
uniprot
proteins
mass_dalton
24326
uniprot
proteins
mutagenesis
MUTAGEN 55; /note="C->A,S: Does not bind alpha subunit. Loss of ability to protect alpha subunit from inhibition by the spider protoxin-II."; /evidence="ECO:0000269|PubMed:26894959
uniprot
proteins
protein_family
Sodium channel auxiliary subunit SCN2B (TC 8.A.17) family
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19808477
uniprot
proteins
pubmed
22992729
uniprot
proteins
pubmed
23559163
uniprot
proteins
pubmed
26894959
uniprot
proteins
pubmed
30765605
uniprot
proteins
pubmed
30765606
uniprot
proteins
pubmed
35277491
uniprot
proteins
pubmed
36823201
uniprot
proteins
pubmed
9295116
uniprot
proteins
pubmed
9887383
uniprot
proteins
sequence_length
215
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:35277491}; Single-pass type I membrane protein {ECO:0000269|PubMed:36823201}. Cell projection, axon {ECO:0000250|UniProtKB:P54900}. Note=Clusters at the axon initial segment and node of Ranvier, the specialized neuronal subcellular domains involved in action potentials generation and propagation. {ECO:0000250|UniProtKB:P54900}.
uniprot
proteins
transmembrane_region
TRANSMEM 158..179; /note="Helical"; /evidence="ECO:0000305|PubMed:36823201, ECO:0007744|PDB:8GZ2
uniprot
proteins