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 (NCBI Gene): 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
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

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

• 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOLOPROSENCEPHALY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCN7A-related disorder	Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	29036792		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	28030838		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	25490274	Associate	★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	28030838		★☆☆☆☆ Found in Text Mining only
Adult Fanconi syndrome	Fanconi syndrome	BEFREE	18174267		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	28030838		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	32619119	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	28030838		★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	BEFREE	31577737		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28122570		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	32512817	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28122570		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	18621663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain neoplasms	Pubtator	31320627	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	3488138		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25490274, 27121919	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26178480		★☆☆☆☆ Found in Text Mining only
Cholestasis, progressive familial intrahepatic 1	Intrahepatic cholestasis	BEFREE	7472910		★☆☆☆☆ Found in Text Mining only
Chronic interstitial nephritis	Interstitial Nephritis	BEFREE	21757947		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28380198		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	30062791, 30830657		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	36406589	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27121919		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27121919	Inhibit	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30466980		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	31605509		★☆☆☆☆ Found in Text Mining only
Cystinosis	Cystinosis	BEFREE	18174267		★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	BEFREE	27538869		★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	30062791		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30651179		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28122570		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	37175987	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	20738386		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	20738386		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	25524840		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	25393565		★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi Syndrome	BEFREE	30681673		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	29661344		★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	29036792		★☆☆☆☆ Found in Text Mining only
Gingival Diseases	Gingival diseases	Pubtator	31743516	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	25524840		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	30551545		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30466980		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	BEFREE	30791405		★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	25524840		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28540990, 30681673		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	27387432, 27530994, 28011057, 28063928, 30062791, 30393493, 31568610		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30062791, 30830657		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26178480	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26178480		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26925671		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	25524840		★☆☆☆☆ Found in Text Mining only
MPS III B	Mucopolysaccharidosis	BEFREE	8776591		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	27814274		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	19407829		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10882752, 17028906, 17101328, 22085494, 28030838, 29036792		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome, Minimal Change	Nephrotic Syndrome	BEFREE	29661344		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11850545, 11954550, 12706883, 17028906, 22085494		★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	BEFREE	18174267		★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 1A	Oculocutaneous albinism	BEFREE	30062791		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	9754694		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	37705744	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	28939941		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	28122570, 28601117		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	28901194, 30830657		★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	BEFREE	30062791		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26925671		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35123417	Associate	★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	BEFREE	28653226		★☆☆☆☆ Found in Text Mining only