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 pro

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT716723	hsa-miR-6769a-3p	HITS-CLIP	19536157
MIRT716722	hsa-miR-3675-3p	HITS-CLIP	19536157
MIRT716721	hsa-miR-6801-3p	HITS-CLIP	19536157
MIRT716720	hsa-miR-6810-3p	HITS-CLIP	19536157
MIRT716719	hsa-miR-370-3p	HITS-CLIP	19536157
MIRT716718	hsa-miR-6893-3p	HITS-CLIP	19536157
MIRT716717	hsa-miR-93-3p	HITS-CLIP	19536157
MIRT716716	hsa-miR-4695-3p	HITS-CLIP	19536157
MIRT716715	hsa-miR-210-5p	HITS-CLIP	19536157
MIRT716714	hsa-miR-8075	HITS-CLIP	19536157
MIRT716713	hsa-miR-7641	HITS-CLIP	19536157
MIRT716723	hsa-miR-6769a-3p	HITS-CLIP	19536157
MIRT716722	hsa-miR-3675-3p	HITS-CLIP	19536157
MIRT716721	hsa-miR-6801-3p	HITS-CLIP	19536157
MIRT716720	hsa-miR-6810-3p	HITS-CLIP	19536157
MIRT716719	hsa-miR-370-3p	HITS-CLIP	19536157
MIRT716718	hsa-miR-6893-3p	HITS-CLIP	19536157
MIRT716717	hsa-miR-93-3p	HITS-CLIP	19536157
MIRT716716	hsa-miR-4695-3p	HITS-CLIP	19536157
MIRT716715	hsa-miR-210-5p	HITS-CLIP	19536157
MIRT716714	hsa-miR-8075	HITS-CLIP	19536157
MIRT716713	hsa-miR-7641	HITS-CLIP	19536157
MIRT1330215	hsa-miR-1253	CLIP-seq
MIRT1330216	hsa-miR-1264	CLIP-seq
MIRT1330217	hsa-miR-140-5p	CLIP-seq
MIRT1330218	hsa-miR-2053	CLIP-seq
MIRT1330219	hsa-miR-208a	CLIP-seq
MIRT1330220	hsa-miR-208b	CLIP-seq
MIRT1330221	hsa-miR-3545-5p	CLIP-seq
MIRT1330222	hsa-miR-3646	CLIP-seq
MIRT1330223	hsa-miR-3662	CLIP-seq
MIRT1330224	hsa-miR-4432	CLIP-seq
MIRT1330225	hsa-miR-4460	CLIP-seq
MIRT1330226	hsa-miR-4803	CLIP-seq
MIRT1330227	hsa-miR-499-5p	CLIP-seq
MIRT1330228	hsa-miR-548a-5p	CLIP-seq
MIRT1330229	hsa-miR-548ab	CLIP-seq
MIRT1330230	hsa-miR-548ak	CLIP-seq
MIRT1330231	hsa-miR-548b-5p	CLIP-seq
MIRT1330232	hsa-miR-548c-5p	CLIP-seq
MIRT1330233	hsa-miR-548d-5p	CLIP-seq
MIRT1330234	hsa-miR-548h	CLIP-seq
MIRT1330235	hsa-miR-548i	CLIP-seq
MIRT1330236	hsa-miR-548j	CLIP-seq
MIRT1330237	hsa-miR-548n	CLIP-seq
MIRT1330238	hsa-miR-548w	CLIP-seq
MIRT1330239	hsa-miR-548y	CLIP-seq
MIRT1330240	hsa-miR-559	CLIP-seq
MIRT1330241	hsa-miR-633	CLIP-seq
MIRT1330242	hsa-miR-802	CLIP-seq
MIRT2097838	hsa-miR-370	CLIP-seq
MIRT2097839	hsa-miR-4720-3p	CLIP-seq
MIRT2097840	hsa-miR-4804-3p	CLIP-seq
MIRT2322122	hsa-miR-570	CLIP-seq
MIRT2458957	hsa-miR-1244	CLIP-seq
MIRT2458958	hsa-miR-3184	CLIP-seq
MIRT2458959	hsa-miR-423-5p	CLIP-seq
MIRT2458960	hsa-miR-4688	CLIP-seq
MIRT2458961	hsa-miR-486-3p	CLIP-seq
MIRT2458957	hsa-miR-1244	CLIP-seq
MIRT2458958	hsa-miR-3184	CLIP-seq
MIRT2458959	hsa-miR-423-5p	CLIP-seq
MIRT2458960	hsa-miR-4688	CLIP-seq
MIRT2458961	hsa-miR-486-3p	CLIP-seq

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 (Atypical sodium channel Nav2.1) (Nax channel) (Sodium channel protein type VII subunit alpha)
• Protein function: Sodium leak channel functioning as an osmosensor regulating sodium ion levels in various tissues and organs. While most sodium channels are voltage-gated, SCN7A is not and lets sodium flow through membrane along its concentration gradient (PubMe
• PDB: 7TJ8, 7TJ9
• 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

Pathways

KEGG:

Adrenergic signaling in cardiomyocytes

Reactome:

Phase 0 - rapid depolarisation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	18621663