Sodium channel protein type 2 subunit alpha

UniProt Q99250 Organism Homo sapiens Gene HBA, NAC2, SCN2A, SCN2A1, SCN2A2

Also known as: HBA, NAC2, SCN2A, SCN2A1, SCN2A2

Function

Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. Implicated in the regulation of hippocampal replay occurring within sharp wave ripples (SPW-R) important for memory (By similarity).

Classification

Family (Pfam): PF00520 Ion_trans, PF24609 IQ_SCN5A_C, PF06512 Na_trans_assoc, PF11933 Na_trans_cytopl
InterPro: Ion_trans_dom, IQ_motif_EF-hand-BS, IQ_SCN5A_C, Na_channel_asu, Na_chnl_inactivation_gate, Na_trans_assoc_dom, Na_trans_cytopl, VGCC_Ca_Na, Volt_channel_dom_sf
Functional cluster: DEAD-Box RNA Helicases & Biogenesis Factors

Experimental structures · PDB · 5

2KAV NMR
4JPZ X-ray 3.02A
4RLY X-ray 2.50A
6BUT NMR
6J8E EM 3.00A

A predicted model is available from AlphaFold.

Gene Ontology · 17

Disease associations

seizures, benign familial infantile, 3 MONDO:0011904
developmental and epileptic encephalopathy, 11 MONDO:0013388
episodic ataxia, type 9 MONDO:0030064

Drugs targeting this protein · 56

Neighborhood · nearest proteins

Nearest neighbours of Sodium channel protein type 2 subunit alpha: 3 by sequence/function similarity (left); 3 co-cited in the literature (right).

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Sodium channel protein type 1 subunit alpha 16 shared papers
Sodium channel protein type 3 subunit alpha 3 shared papers
Glutamate receptor 3 1 shared papers
Methyl-CpG-binding protein 2 5 shared papers
Potassium voltage-gated channel subfamily KQT member 2 7 shared papers
Cyclin-dependent kinase-like 5 5 shared papers
Potassium voltage-gated channel subfamily KQT member 3 3 shared papers
Sodium channel regulatory subunit beta-2 2 shared papers
Kinesin-like protein KIF3C 1 shared papers
Mu-conotoxin KIIIB 1 shared papers
Sodium channel protein type 2 subunit alpha 3 shared papers
Syntaxin-binding protein 1 5 shared papers

Literature · 69 cited papers

Pain-causing stinging nettle toxins target TMEM233 to modulate NaV1.7 function. Nat. Commun. · 2023
Molecular basis for pore blockade of human Na+ channel Nav1.2 by the mu-conotoxin KIIIA. Science · 2019
Ketogenic diet as a successful early treatment modality for SCN2A mutation. Brain Dev. · 2019
Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development. Neuropediatrics · 2018
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies. Hum. Mutat. · 2018
Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy. Hum. Genome Var. · 2018
Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy. Proc. Natl. Acad. Sci. U.S.A. · 2018
The finding of a new heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS+) using targeted next-generation sequencing. Clin. Neurol. Neurosurg. · 2018
SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet. Brain Dev. · 2018
The therapeutic implication of a novel SCN2A mutation associated early-onset epileptic encephalopathy with Rett-like features. Brain Dev. · 2017
The tarantula toxin beta/delta-TRTX-Pre1a highlights the importance of the S1-S2 voltage-sensor region for sodium channel subtype selectivity. Sci. Rep. · 2017
Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures. Biol. Psychiatry · 2017
… and 57 more in the literature graph

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