Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6332
Gene name Gene Name - the full gene name approved by the HGNC.	Sodium voltage-gated channel alpha subunit 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SCN7A
Synonyms (NCBI Gene) Gene synonyms aliases	NaG, Nav2.1, Nav2.2, SCN6A
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q24.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

Show/Hide all(28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001518	Component	Voltage-gated sodium channel complex	IBA
GO:0001518	Component	Voltage-gated sodium channel complex	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IBA
GO:0005248	Function	Voltage-gated sodium channel activity	IEA
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005272	Function	Sodium channel activity	IMP	26537257
GO:0005515	Function	Protein binding	IPI	35301303
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0007231	Process	Osmosensory signaling pathway	IEA
GO:0007231	Process	Osmosensory signaling pathway	ISS
GO:0009617	Process	Response to bacterium	IEA
GO:0016020	Component	Membrane	IEA
GO:0019725	Process	Cellular homeostasis	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0055078	Process	Sodium ion homeostasis	IEA
GO:0055078	Process	Sodium ion homeostasis	IEA
GO:0055078	Process	Sodium ion homeostasis	IMP	26537257
GO:0055085	Process	Transmembrane transport	IEA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IBA
GO:0097386	Component	Glial cell projection	IEA
GO:1990760	Function	Osmolarity-sensing monoatomic cation channel activity	IEA
GO:1990760	Function	Osmolarity-sensing monoatomic cation channel activity	ISS

MIM	HGNC	e!Ensembl
182392	10594	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

Tissue specificity

TISSUE SPECIFICITY: Heart and uterus. {ECO:0000269|PubMed:1317577}.

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

Interactions

View interactions

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	N/A	N/A	GWAS
Diabetes	Diabetic peripheral neuropathy in type 2 diabetes	N/A	N/A	GWAS

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adrenocortical Carcinoma	Associate	25490274
Amyotrophic Lateral Sclerosis	Associate	32619119
Asthma	Associate	32512817
Brain Neoplasms	Associate	31320627
Carcinogenesis	Associate	25490274, 27121919
Cognitive Dysfunction	Associate	36406589
Colorectal Neoplasms	Inhibit	27121919
Diabetic Neuropathies	Associate	37175987
Gingival Diseases	Associate	31743516
Lung Neoplasms	Associate	26178480
Neoplasms	Associate	35123417
Prostatic Hyperplasia	Associate	37705744
Rectal Neoplasms	Associate	34613665
Stomach Neoplasms	Associate	35123417

SCN7A (sodium voltage-gated channel alpha subunit 7)