• Gene id: 6326

Gene Summary

• Gene Symbol: SCN2A   Gene   UCSC   Ensembl
• Aliases: BFIC3, BFIS3, BFNIS, EIEE11, HBA, HBSCI, HBSCII, NAC2, Na(v)1.2, Nav1.2, SCN2A1, SCN2A2
• Gene name: sodium voltage-gated channel alpha subunit 2
• Alternate names: sodium channel protein type 2 subunit alpha, sodium channel protein brain II subunit alpha, sodium channel protein type II subunit alpha, sodium channel protein, brain type 2 alpha subunit, sodium channel, voltage-gated, type II, alpha 1 polypeptide, sodium ch,
• Gene location: 2q24.3 (165208055: 165392309)     Exons: 15     NC_000002.12
• Gene summary(Entrez): Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium
• OMIM: 182390

Protein Summary

• Protein general information: Q99250  
  • Name: Sodium channel protein type 2 subunit alpha (HBSC II) (Sodium channel protein brain II subunit alpha) (Sodium channel protein type II subunit alpha) (Voltage gated sodium channel subunit alpha Nav1.2)
  • Length: 2005  
  • Mass: 227975
• Sequence:

  MAQSVLVPPGPDSFRFFTRESLAAIEQRIAEEKAKRPKQERKDEDDENGPKPNSDLEAGKSLPFIYGDIPPEMVS
  VPLEDLDPYYINKKTFIVLNKGKAISRFSATPALYILTPFNPIRKLAIKILVHSLFNMLIMCTILTNCVFMTMSN
  PPDWTKNVEYTFTGIYTFESLIKILARGFCLEDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRAL
  KTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCLQWPPDNSSFEINITSFFNNSL
  DGNGTTFNRTVSIFNWDEYIEDKSHFYFLEGQNDALLCGNSSDAGQCPEGYICVKAGRNPNYGYTSFDTFSWAFL
  SLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLILAVVAMAYEEQNQATLEEAEQKEAEFQQML
  EQLKKQQEEAQAAAAAASAESRDFSGAGGIGVFSESSSVASKLSSKSEKELKNRRKKKKQKEQSGEEEKNDRVRK
  SESEDSIRRKGFRFSLEGSRLTYEKRFSSPHQSLLSIRGSLFSPRRNSRASLFSFRGRAKDIGSENDFADDEHST
  FEDNDSRRDSLFVPHRHGERRHSNVSQASRASRVLPILPMNGKMHSAVDCNGVVSLVGGPSTLTSAGQLLPEGTT
  TETEIRKRRSSSYHVSMDLLEDPTSRQRAMSIASILTNTMEELEESRQKCPPCWYKFANMCLIWDCCKPWLKVKH
  LVNLVVMDPFVDLAITICIVLNTLFMAMEHYPMTEQFSSVLSVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNI
  FDGFIVSLSLMELGLANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGM
  QLFGKSYKECVCKISNDCELPRWHMHDFFHSFLIVFRVLCGEWIETMWDCMEVAGQTMCLTVFMMVMVIGNLVVL
  NLFLALLLSSFSSDNLAATDDDNEMNNLQIAVGRMQKGIDFVKRKIREFIQKAFVRKQKALDEIKPLEDLNNKKD
  SCISNHTTIEIGKDLNYLKDGNGTTSGIGSSVEKYVVDESDYMSFINNPSLTVTVPIAVGESDFENLNTEEFSSE
  SDMEESKEKLNATSSSEGSTVDIGAPAEGEQPEVEPEESLEPEACFTEDCVRKFKCCQISIEEGKGKLWWNLRKT
  CYKIVEHNWFETFIVFMILLSSGALAFEDIYIEQRKTIKTMLEYADKVFTYIFILEMLLKWVAYGFQVYFTNAWC
  WLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLI
  FSIMGVNLFAGKFYHCINYTTGEMFDVSVVNNYSECKALIESNQTARWKNVKVNFDNVGLGYLSLLQVATFKGWM
  DIMYAAVDSRNVELQPKYEDNLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNA
  MKKLGSKKPQKPIPRPANKFQGMVFDFVTKQVFDISIMILICLNMVTMMVETDDQSQEMTNILYWINLVFIVLFT
  GECVLKLISLRYYYFTIGWNIFDFVVVILSIVGMFLAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLL
  FALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILN
  SGPPDCDPDKDHPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYE
  VWEKFDPDATQFIEFAKLSDFADALDPPLLIAKPNKVQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDAL
  RIQMEERFMASNPSKVSYEPITTTLKRKQEEVSAIIIQRAYRRYLLKQKVKKVSSIYKKDKGKECDGTPIKEDTL
  IDKLNENSTPEKTDMTPSTTSPPSYDSVTKPEKEKFEKDKSEKEDKGKDIRESKK

• Structural information:
  • Protein Domains: (1905..193-)
    (/note="IQ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00116"-)
  • Interpro: IPR005821  IPR000048  IPR001696  IPR010526  IPR024583   IPR027359  
  • Prosite: PS50096
  • PDB: 2KAV 4JPZ 4RLY 6BUT 6J8E
  • PDBsum: 2KAV 4JPZ 4RLY 6BUT 6J8E
  • STRING: ENSP00000364586
• Other Databases: GeneCards:  SCN2A  Malacards:  SCN2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005248	voltage-gated sodium channel activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0086010	membrane depolarization during action potential	IBA	biological process
GO:0001518	voltage-gated sodium channel complex	IBA	cellular component
GO:0005261	cation channel activity	IBA	molecular function
GO:0019228	neuronal action potential	IBA	biological process
GO:0030424	axon	IBA	cellular component
GO:0035725	sodium ion transmembrane transport	IBA	biological process
GO:0051402	neuron apoptotic process	ISS	biological process
GO:0006814	sodium ion transport	ISS	biological process
GO:0007613	memory	ISS	biological process
GO:0071456	cellular response to hypoxia	ISS	biological process
GO:0035725	sodium ion transmembrane transport	ISS	biological process
GO:0005248	voltage-gated sodium channel activity	IMP	molecular function
GO:0016020	membrane	ISS	cellular component
GO:0005248	voltage-gated sodium channel activity	ISS	molecular function
GO:0008627	intrinsic apoptotic signaling pathway in response to osmotic stress	ISS	biological process
GO:0007399	nervous system development	ISS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0034706	sodium channel complex	ISS	cellular component
GO:0031226	intrinsic component of plasma membrane	ISS	cellular component
GO:0005248	voltage-gated sodium channel activity	ISS	molecular function
GO:0001518	voltage-gated sodium channel complex	IEA	cellular component
GO:0005261	cation channel activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0005216	ion channel activity	IEA	molecular function
GO:0005248	voltage-gated sodium channel activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0005272	sodium channel activity	IEA	molecular function
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0005248	voltage-gated sodium channel activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006814	sodium ion transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0051402	neuron apoptotic process	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0030315	T-tubule	IEA	cellular component
GO:0014704	intercalated disc	IEA	cellular component
GO:0007613	memory	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0099056	integral component of presynaptic membrane	IEA	cellular component
GO:0033270	paranode region of axon	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008627	intrinsic apoptotic signaling pathway in response to osmotic stress	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005248	voltage-gated sodium channel activity	IEA	molecular function
GO:0030424	axon	TAS	cellular component
GO:0033268	node of Ranvier	ISS	cellular component
GO:0042552	myelination	ISS	biological process
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04742	Taste transduction

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Benign familial infantile seizure	KEGG:H02362
Early infantile epileptic encephalopathy	KEGG:H00606
Benign familial infantile seizure	KEGG:H02362
Benign familial neonatal epilepsy	PMID:16417554
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)