• Gene id: 11280

Gene Summary

• Gene Symbol: SCN11A   Gene   UCSC   Ensembl
• Aliases: FEPS3, HSAN7, NAV1.9, NaN, PN5, SCN12A, SNS-2
• Gene name: sodium voltage-gated channel alpha subunit 11
• Alternate names: sodium channel protein type 11 subunit alpha, peripheral nerve sodium channel 5, sensory neuron sodium channel 2, sodium channel protein type XI subunit alpha, sodium channel, voltage-gated, type XI, alpha polypeptide, sodium channel, voltage-gated, type XI, a,
• Gene location: 3p22.2 (39051943: 38845763)     Exons: 37     NC_000003.12
• Gene summary(Entrez): Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials i
• OMIM: 604385

Protein Summary

• Protein general information: Q9UI33  
  • Name: Sodium channel protein type 11 subunit alpha (Peripheral nerve sodium channel 5) (PN5) (Sensory neuron sodium channel 2) (Sodium channel protein type XI subunit alpha) (Voltage gated sodium channel subunit alpha Nav1.9) (hNaN)
  • Length: 1791  
  • Mass: 204922
  • Tissue specificity: Expressed in the dorsal root ganglia and trigeminal ganglia, olfactory bulb, hippocampus, cerebellar cortex, spinal cord, spleen, small intestine and placenta. {ECO
• Sequence:

  MDDRCYPVIFPDERNFRPFTSDSLAAIEKRIAIQKEKKKSKDQTGEVPQPRPQLDLKASRKLPKLYGDIPRELIG
  KPLEDLDPFYRNHKTFMVLNRKRTIYRFSAKHALFIFGPFNSIRSLAIRVSVHSLFSMFIIGTVIINCVFMATGP
  AKNSNSNNTDIAECVFTGIYIFEALIKILARGFILDEFSFLRDPWNWLDSIVIGIAIVSYIPGITIKLLPLRTFR
  VFRALKAISVVSRLKVIVGALLRSVKKLVNVIILTFFCLSIFALVGQQLFMGSLNLKCISRDCKNISNPEAYDHC
  FEKKENSPEFKMCGIWMGNSACSIQYECKHTKINPDYNYTNFDNFGWSFLAMFRLMTQDSWEKLYQQTLRTTGLY
  SVFFFIVVIFLGSFYLINLTLAVVTMAYEEQNKNVAAEIEAKEKMFQEAQQLLKEEKEALVAMGIDRSSLTSLET
  SYFTPKKRKLFGNKKRKSFFLRESGKDQPPGSDSDEDCQKKPQLLEQTKRLSQNLSLDHFDEHGDPLQRQRALSA
  VSILTITMKEQEKSQEPCLPCGENLASKYLVWNCCPQWLCVKKVLRTVMTDPFTELAITICIIINTVFLAMEHHK
  MEASFEKMLNIGNLVFTSIFIAEMCLKIIALDPYHYFRRGWNIFDSIVALLSFADVMNCVLQKRSWPFLRSFRVL
  RVFKLAKSWPTLNTLIKIIGNSVGALGSLTVVLVIVIFIFSVVGMQLFGRSFNSQKSPKLCNPTGPTVSCLRHWH
  MGDFWHSFLVVFRILCGEWIENMWECMQEANASSSLCVIVFILITVIGKLVVLNLFIALLLNSFSNEERNGNLEG
  EARKTKVQLALDRFRRAFCFVRHTLEHFCHKWCRKQNLPQQKEVAGGCAAQSKDIIPLVMEMKRGSETQEELGIL
  TSVPKTLGVRHDWTWLAPLAEEEDDVEFSGEDNAQRITQPEPEQQAYELHQENKKPTSQRVQSVEIDMFSEDEPH
  LTIQDPRKKSDVTSILSECSTIDLQDGFGWLPEMVPKKQPERCLPKGFGCCFPCCSVDKRKPPWVIWWNLRKTCY
  QIVKHSWFESFIIFVILLSSGALIFEDVHLENQPKIQELLNCTDIIFTHIFILEMVLKWVAFGFGKYFTSAWCCL
  DFIIVIVSVTTLINLMELKSFRTLRALRPLRALSQFEGMKVVVNALIGAIPAILNVLLVCLIFWLVFCILGVYFF
  SGKFGKCINGTDSVINYTIITNKSQCESGNFSWINQKVNFDNVGNAYLALLQVATFKGWMDIIYAAVDSTEKEQQ
  PEFESNSLGYIYFVVFIIFGSFFTLNLFIGVIIDNFNQQQKKLGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPR
  PLNKCQGLVFDIVTSQIFDIIIISLIILNMISMMAESYNQPKAMKSILDHLNWVFVVIFTLECLIKIFALRQYYF
  TNGWNLFDCVVVLLSIVSTMISTLENQEHIPFPPTLFRIVRLARIGRILRLVRAARGIRTLLFALMMSLPSLFNI
  GLLLFLIMFIYAILGMNWFSKVNPESGIDDIFNFKTFASSMLCLFQISTSAGWDSLLSPMLRSKESCNSSSENCH
  LPGIATSYFVSYIIISFLIVVNMYIAVILENFNTATEESEDPLGEDDFDIFYEVWEKFDPEATQFIKYSALSDFA
  DALPEPLRVAKPNKYQFLVMDLPMVSEDRLHCMDILFAFTARVLGGSDGLDSMKAMMEEKFMEANPLKKLYEPIV
  TTTKRKEEERGAAIIQKAFRKYMMKVTKGDQGDQNDLENGPHSPLQTLCNGDLSSFGVAKGKVHCD

• Structural information:
  • Interpro: IPR005821  IPR028821  IPR001696  IPR010526  IPR027359  
  • STRING: ENSP00000307599
• Other Databases: GeneCards:  SCN11A  Malacards:  SCN11A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030424	axon	ISS	cellular component
GO:0035725	sodium ion transmembrane transport	IBA	biological process
GO:0019228	neuronal action potential	IBA	biological process
GO:0005261	cation channel activity	IBA	molecular function
GO:0001518	voltage-gated sodium channel complex	IBA	cellular component
GO:0086010	membrane depolarization during action potential	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005248	voltage-gated sodium channel activity	IBA	molecular function
GO:0051930	regulation of sensory perception of pain	ISS	biological process
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:0006814	sodium ion transport	IEA	biological process
GO:0005244	voltage-gated ion channel activity	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:0016020	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:0042493	response to drug	TAS	biological process
GO:0006814	sodium ion transport	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Hereditary sensory and autonomic neuropathy	KEGG:H00265
Familial episodic pain syndrome	KEGG:H01391
Hereditary sensory and autonomic neuropathy	KEGG:H00265
Familial episodic pain syndrome	KEGG:H01391
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)