• Gene id: 6334

Gene Summary

• Gene Symbol: SCN8A   Gene   UCSC   Ensembl
• Aliases: BFIS5, CERIII, CIAT, EIEE13, MED, MYOCL2, NaCh6, Nav1.6, PN4
• Gene name: sodium voltage-gated channel alpha subunit 8
• Alternate names: sodium channel protein type 8 subunit alpha, hNa6/Scn8a voltage-gated sodium channel, sodium channel, voltage gated, type VIII, alpha subunit, voltage-gated sodium channel subunit alpha Nav1.6, voltage-gated sodium channel type VIII alpha protein,
• Gene location: 12q13.13 (51591232: 51812863)     Exons: 28     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation
• OMIM: 602874

Protein Summary

• Protein general information: Q9UQD0  
  • Name: Sodium channel protein type 8 subunit alpha (Sodium channel protein type VIII subunit alpha) (Voltage gated sodium channel subunit alpha Nav1.6)
  • Length: 1980  
  • Mass: 225280
  • Tissue specificity: Expressed in the hippocampus with increased expression in epileptic tissue compared to normal adjacent tissue (at protein level) (PubMed
• Sequence:

  MAARLLAPPGPDSFKPFTPESLANIERRIAESKLKKPPKADGSHREDDEDSKPKPNSDLEAGKSLPFIYGDIPQG
  LVAVPLEDFDPYYLTQKTFVVLNRGKTLFRFSATPALYILSPFNLIRRIAIKILIHSVFSMIIMCTILTNCVFMT
  FSNPPDWSKNVEYTFTGIYTFESLVKIIARGFCIDGFTFLRDPWNWLDFSVIMMAYITEFVNLGNVSALRTFRVL
  RALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCVVWPINFNESYLENGTKGF
  DWEEYINNKTNFYTVPGMLEPLLCGNSSDAGQCPEGYQCMKAGRNPNYGYTSFDTFSWAFLALFRLMTQDYWENL
  YQLTLRAAGKTYMIFFVLVIFVGSFYLVNLILAVVAMAYEEQNQATLEEAEQKEAEFKAMLEQLKKQQEEAQAAA
  MATSAGTVSEDAIEEEGEEGGGSPRSSSEISKLSSKSAKERRNRRKKRKQKELSEGEEKGDPEKVFKSESEDGMR
  RKAFRLPDNRIGRKFSIMNQSLLSIPGSPFLSRHNSKSSIFSFRGPGRFRDPGSENEFADDEHSTVEESEGRRDS
  LFIPIRARERRSSYSGYSGYSQGSRSSRIFPSLRRSVKRNSTVDCNGVVSLIGGPGSHIGGRLLPEATTEVEIKK
  KGPGSLLVSMDQLASYGRKDRINSIMSVVTNTLVEELEESQRKCPPCWYKFANTFLIWECHPYWIKLKEIVNLIV
  MDPFVDLAITICIVLNTLFMAMEHHPMTPQFEHVLAVGNLVFTGIFTAEMFLKLIAMDPYYYFQEGWNIFDGFIV
  SLSLMELSLADVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKS
  YKECVCKINQDCELPRWHMHDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLIVFMMVMVIGNLVVLNLFLAL
  LLSSFSADNLAATDDDGEMNNLQISVIRIKKGVAWTKLKVHAFMQAHFKQREADEVKPLDELYEKKANCIANHTG
  ADIHRNGDFQKNGNGTTSGIGSSVEKYIIDEDHMSFINNPNLTVRVPIAVGESDFENLNTEDVSSESDPEGSKDK
  LDDTSSSEGSTIDIKPEVEEVPVEQPEEYLDPDACFTEGCVQRFKCCQVNIEEGLGKSWWILRKTCFLIVEHNWF
  ETFIIFMILLSSGALAFEDIYIEQRKTIRTILEYADKVFTYIFILEMLLKWTAYGFVKFFTNAWCWLDFLIVAVS
  LVSLIANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALVGAIPSIMNVLLVCLIFWLIFSIMGVNLFA
  GKYHYCFNETSEIRFEIEDVNNKTECEKLMEGNNTEIRWKNVKINFDNVGAGYLALLQVATFKGWMDIMYAAVDS
  RKPDEQPKYEDNIYMYIYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKP
  QKPIPRPLNKIQGIVFDFVTQQAFDIVIMMLICLNMVTMMVETDTQSKQMENILYWINLVFVIFFTCECVLKMFA
  LRHYYFTIGWNIFDFVVVILSIVGMFLADIIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPA
  LFNIGLLLFLVMFIFSIFGMSNFAYVKHEAGIDDMFNFETFGNSMICLFQITTSAGWDGLLLPILNRPPDCSLDK
  EHPGSGFKGDCGNPSVGIFFFVSYIIISFLIVVNMYIAIILENFSVATEESADPLSEDDFETFYEIWEKFDPDAT
  QFIEYCKLADFADALEHPLRVPKPNTIELIAMDLPMVSGDRIHCLDILFAFTKRVLGDSGELDILRQQMEERFVA
  SNPSKVSYEPITTTLRRKQEEVSAVVLQRAYRGHLARRGFICKKTTSNKLENGGTHREKKESTPSTASLPSYDSV
  TKPEKEKQQRAEEGRRERAKRQKEVRESKC

• Structural information:
  • Protein Domains: (1895..192-)
    (/note="IQ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00116,-ECO:0000305")
  • Interpro: IPR005821  IPR000048  IPR008054  IPR001696  IPR010526   IPR024583  IPR027359  
  • Prosite: PS50096
  • STRING: ENSP00000346534
• Other Databases: GeneCards:  SCN8A  Malacards:  SCN8A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030424	axon	ISS	cellular component
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:0005248	voltage-gated sodium channel activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005248	voltage-gated sodium channel activity	IMP	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:0005272	sodium channel activity	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0007399	nervous system development	TAS	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0033268	node of Ranvier	ISS	cellular component
GO:0042552	myelination	ISS	biological process
GO:0007422	peripheral nervous system development	ISS	biological process
GO:0030018	Z disc	ISS	cellular component
GO:0043194	axon initial segment	ISS	cellular component
GO:0030424	axon	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0005248	voltage-gated sodium channel activity	IDA	molecular function
GO:0001518	voltage-gated sodium channel complex	IC	cellular component
GO:0006814	sodium ion transport	NAS	biological process
GO:0005248	voltage-gated sodium channel activity	NAS	molecular function

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
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray