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Na+ channel protein type 2 subunit alpha; Na+ channel protein type II subunit alpha; voltage-gated Na+ channel subunit alpha Nav1.2; Na+ channel protein, brain II subunit alpha; HBSC II (SCN2A, NAC2, SCN2A1, SCN2A2)
Function:
- mediates voltage-dependent Na+ permeability of excitable membranes
- assumes opened or closed conformation in response to voltage difference across the membrane,
- forms a Na+-selective channel through which Na+ ions may pass in accordance with their electrochemical gradient
- may be ubiquitinated by NEDD4L; which would promote its endocytosis (putative)
- the Na+ channel consists of a large polypeptide & 2-3 smaller ones interacts with NEDD4L (putative)
Structure:
- large polypeptide with 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) & one positively charged segment (S4)
- segments S4 are probably the voltage-sensors & are characterized by a series of positively charged amino acids at every third position
- belongs to the Na+ channel family
- contains 1 IQ domain
Compartment: membrane
Alternative splicing: named isoforms=2
Pathology:
- defects in SCN2A are a cause of
a) generalized epilepsy with febrile seizures plus (GEFS+)
b) benign familial infantile convulsions type 3
Related
voltage-dependent Na+ channel
General
glycoprotein
voltage-dependent Na+ channel protein alpha subunit
Properties
SIZE: entity length = 2005 aa
MW = 228 kD
COMPARTMENT: cellular membrane
MOTIF: consensus repeat {111-456}
MOTIF: transmembrane domain {125-148}
transmembrane domain {157-176}
transmembrane domain {190-208}
N-glycosylation site {N212}
transmembrane domain {215-234}
transmembrane domain {251-274}
N-glycosylation site {N285}
N-glycosylation site {N291}
N-glycosylation site {N297}
N-glycosylation site {N303}
N-glycosylation site {N308}
N-glycosylation site {N340}
transmembrane domain {402-427}
N-glycosylation site {N604}
N-glycosylation site {N624}
consensus repeat {741-1013}
MOTIF: transmembrane domain {754-778}
transmembrane domain {790-813}
transmembrane domain {822-841}
transmembrane domain {848-867}
N-glycosylation site {N883}
transmembrane domain {884-904}
transmembrane domain {958-983}
N-glycosylation site {N1055}
N-glycosylation site {N1072}
N-glycosylation site {N1136}
consensus repeat {1190-1504}
MOTIF: transmembrane domain {1204-1227}
transmembrane domain {1241-1266}
transmembrane domain {1273-1294}
transmembrane domain {1299-1320}
transmembrane domain {1340-1367}
N-glycosylation site {N1368}
N-glycosylation site {N1382}
N-glycosylation site {N1393}
transmembrane domain {1447-1473}
consensus repeat {1513-1811}
MOTIF: transmembrane domain {1527-1550}
transmembrane domain {1562-1585}
transmembrane domain {1592-1615}
transmembrane domain {1626-1647}
transmembrane domain {1663-1685}
transmembrane domain {1752-1776}
N-glycosylation site {N1778}
IQ motif {1905-1934}
Database Correlations
OMIM correlations
UniProt Q99250
PFAM correlations
Entrez Gene 6326
Kegg hsa:6326
References
- UniProt :accession Q99250
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=SCN2A