SCN7A (sodium voltage-gated channel alpha subunit 7)

Gene

• Entrez ID: 6332
• Gene name: Sodium voltage-gated channel alpha subunit 7
• Gene symbol: SCN7A
• Synonyms: NaG, Nav2.1, Nav2.2, SCN6A
• Chromosome: 2
• Chromosome location: 2q24.3
• Summary: This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT716713	hsa-miR-7641	HITS-CLIP	19536157
MIRT716714	hsa-miR-8075	HITS-CLIP	19536157
MIRT716715	hsa-miR-210-5p	HITS-CLIP	19536157
MIRT716716	hsa-miR-4695-3p	HITS-CLIP	19536157
MIRT716717	hsa-miR-93-3p	HITS-CLIP	19536157
MIRT716718	hsa-miR-6893-3p	HITS-CLIP	19536157
MIRT716719	hsa-miR-370-3p	HITS-CLIP	19536157
MIRT716720	hsa-miR-6810-3p	HITS-CLIP	19536157
MIRT716721	hsa-miR-6801-3p	HITS-CLIP	19536157
MIRT716722	hsa-miR-3675-3p	HITS-CLIP	19536157
MIRT716723	hsa-miR-6769a-3p	HITS-CLIP	19536157

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001518	Component	Voltage-gated sodium channel complex	IBA	21873635
GO:0005244	Function	Voltage-gated ion channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IBA	21873635
GO:0006814	Process	Sodium ion transport	TAS	1317577
GO:0006936	Process	Muscle contraction	IEA
GO:0009617	Process	Response to bacterium	IEA
GO:0019228	Process	Neuronal action potential	IBA	21873635
GO:0030424	Component	Axon	IBA	21873635
GO:0034765	Process	Regulation of ion transmembrane transport	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA	21873635
GO:0055078	Process	Sodium ion homeostasis	IEA
GO:0086010	Process	Membrane depolarization during action potential	IBA	21873635
GO:0097386	Component	Glial cell projection	IEA

Other IDs

• MIM: 182392
• HGNC: 10594
• e!Ensembl: ENSG00000136546

Protein

• UniProt ID: Q01118
• Protein name: Sodium channel protein type 7 subunit alpha (Putative voltage-gated sodium channel subunit alpha Nax) (Sodium channel protein cardiac and skeletal muscle subunit alpha) (Sodium channel protein type VII subunit alpha)
• Protein 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.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00520	Ion_trans	117 → 405	Ion transport protein	Family
  PF00520	Ion_trans	504 → 738	Ion transport protein	Family
  PF06512	Na_trans_assoc	742 → 929	Sodium ion transport-associated	Family
  PF00520	Ion_trans	933 → 1202	Ion transport protein	Family
  PF00520	Ion_trans	1250 → 1507	Ion transport protein	Family

• Sequence:

  MLASPEPKGLVPFTKESFELIKQHIAKTHNEDHEEEDLKPTPDLEVGKKLPFIYGNLSQG
  MVSEPLEDVDPYYYKKKNTFIVLNKNRTIFRFNAASILCTLSPFNCIRRTTIKVLVHPFF
  QLFILISVLIDCVFMSLTNLPKWRPVLENTLLGIYTFEILVKLFARGVWAGSFSFLGDPW
  NWLDFSVTVFEVIIRYSPLDFIPTLQTARTLRILKIIPLNQGLKSLVGVLIHCLKQLIGV
  IILTLFFLSIFSLIGMGLFMGNLKHKCFRWPQENENETLHNRTGNPYYIRETENFYYLEG
  ERYALLCGNRTDAGQCPEGYVCVKAGINPDQGFTNFDSFGWALFALFRLMAQDYPEVLYH
  QILYASGKVYMIFFVVVSFLFSFYMASLFLGILAMAYEEEKQRVGEISKKIEPKFQQTGK
  ELQEGNETDEAKTIQIEMKKRSPISTDTSLDVLEDATLRHKEELEKSKKICPLYWYKFAK
  TFLIWNCSPCWLKLKEFVHRIIMAPFTDLFLIICIILNVCFLTLEHYPMSKQTNTLLNIG
  NLVFIGIFTAEMIFKIIAMHPYGYFQVGWNIFDSMIVFHGLIELCLANVAGMALLRLFRM
  LRIFKLGKYWPTFQILMWSLSNSWVALKDLVLLLFTFIFFSAAFGMKLFGKNYEEFVCHI
  DKDCQLPRWHMHDFFHSFLNVFRILCGEWVETLWDCMEVAGQSWCIPFYLMVILIGNLLV
  LYLFLALVSSFSSCKDVTAEENNEAKNLQLAVARIKKGINYVLLKILCKTQNVPKDTMDH
  VNEVYVKEDISDHTLSELSNTQDFLKDKEKSSGTEKNATENESQSLIPSPSVSETVPIAS
  GESDIENLDNKEIQSKSGDGGSKEKIKQSSSSECSTVDIAISEEEEMFYGGERSKHLKNG
  CRRGSSLGQISGASKKGKIWQNIRKTCCKIVENNWFKCFIGLVTLLSTGTLAFEDIYMDQ
  RKTIKILLEYADMIFTYIFILEMLLKWMAYGFKAYFSNGWYRLDFVVVIVFCLSLIGKTR
  EELKPLISMKFLRPLRVLSQFERMKVVVRALIKTTLPTLNVFLVCLMIWLIFSIMGVDLF
  AGRFYECIDPTSGERFPSSEVMNKSRCESLLFNESMLWENAKMNFDNVGNGFLSLLQVAT
  FNGWITIMNSAIDSVAVNIQPHFEVNIYMYCYFINFIIFGVFLPLSMLITVIIDNFNKHK
  IKLGGSNIFITVKQRKQYRRLKKLMYEDSQRPVPRPLNKLQGFIFDVVTSQAFNVIVMVL
  ICFQAIAMMIDTDVQSLQMSIALYWINSIFVMLYTMECILKLIAFRCFYFTIAWNIFDFM
  VVIFSITGLCLPMTVGSYLVPPSLVQLILLSRIIHMLRLGKGPKVFHNLMLPLMLSLPAL
  LNIILLIFLVMFIYAVFGMYNFAYVKKEAGINDVSNFETFGNSMLCLFQVAIFAGWDGML
  DAIFNSKWSDCDPDKINPGTQVRGDCGNPSVGIFYFVSYILISWLIIVNMYIVVVMEFLN
  IASKKKNKTLSEDDFRKFFQVWKRFDPDRTQYIDSSKLSDFAAALDPPLFMAKPNKGQLI
  ALDLPMAVGDRIHCLDILLAFTKRVMGQDVRMEKVVSEIESGFLLANPFKITCEPITTTL
  KRKQEAVSATIIQRAYKNYRLRRNDKNTSDIHMIDGDRDVHATKEGAYFDKAKEKSPIQS
  QI

• Sequence length: 1682