SCN4A Gene
protein-coding GIFtS: 64
GCID: GC17M062015
|
|
sodium channel, voltage-gated, type IV, alpha subunit
(Previous symbol: HYKPP)
| |
Aliases
for SCN4A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Sodium Channel, Voltage-Gated, Type IV, Alpha Subunit1 2 | | Voltage-Gated Sodium Channel Subunit Alpha Nav1.42 3 | | SkM11 2 3 | | HOKPP22 5 | | HYPP1 2 5 | | NAC1A2 5 | | HYKPP1 2 | | Na(V)1.42 | | Nav1.41 2 | | Skeletal Muscle Voltage-Dependent Sodium Channel Type IV Alpha Subunit2 | | Sodium Channel Protein Skeletal Muscle Subunit Alpha2 3 | | Sodium Channel Protein Type 4 Subunit Alpha2 | | Sodium Channel Protein Type IV Subunit Alpha2 3 | | |
Export aliases for SCN4A gene to outside databasesPrevious GC identifers: GC17M061653 GC17M064442 GC17M062356 GC17M062489 GC17M059369 GC17M057383 |
Summaries
for SCN4A gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for SCN4A:
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation andpropagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alphasubunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to severalmyotonia and periodic paralysis disorders. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: SCN4A_HUMAN, P35499Function: This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming openedor closed conformations in response to the voltage difference across the membrane, the protein forms asodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. Thissodium channel may be present in both denervated and innervated skeletal muscle
 summary
for SCN4A: Voltage-gated sodium channels (NaV) are responsible for action potential initiation and propagation in
excitable cells, including nerve, muscle, and neuroendocrine cell types. They are also expressed at low
levels in non-excitable cells, where their physiological role is unclear. Structurally, Nav channels are
composed of one pore-forming alpha-subunit, which may be associated with either one or more beta-subunits.
alpha-subunits are composed for four homologous domains, each of which contains six transmembrane segments.
The fourth transmembrane loop (S4) acts as the 'voltage sensor' and is activated by changes in membrane
potential. S4 is also involved in channel gating.
Gene Wiki entry for SCN4A (Nav1.4)
|
Genomic Views
for SCN4A gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000017.10 NC_018928.1 NT_010783.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SCN4A gene promoter:
Tal-1 AML1a p53 Pax-2 Pax-2a STAT5A E47 ATF6 RSRFC4
Other transcription factors
Search SABiosciences Chromatin IP Primers for SCN4A
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SCN4A |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17q23.3 Ensembl cytogenetic band: 17q23.3 HGNC cytogenetic band: 17q23.3SCN4A Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17M062015: view genomic region
(about GC identifiers)
Start:
|
62,015,914 bp from pter |
End:
|
62,050,278 bp from pter |
Size:
|
34,365 bases |
Orientation:
|
minus strand |
|
Proteins
for SCN4A gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: SCN4A_HUMAN, P35499 (See
protein sequence)Recommended Name: Sodium channel protein type 4 subunit alpha Size: 1836 amino acids; 208061 Da
Subunit: Muscle sodium channels contain an alpha subunit and a smaller beta subunit. Interacts with the PDZ domain ofthe syntrophin SNTA1, SNTB1 and SNTB2 (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: Q15478 Q16447 Q7Z6B1Explore the universe of human proteins at neXtProt for SCN4A: NX_P35499
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P35499
SCN4A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000325.4
ENSEMBL proteins: ENSP00000463963 ENSP00000396320 Reactome Protein details: P35499
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0001518 | voltage-gated sodium channel complex |
IEA | -- | | GO:0005887 | integral to plasma membrane |
TAS | 1659948 |
SCN4A for ontologies About GeneDecksing
SCN4A Antibody Products:
Assay Products for SCN4A: |
Protein
Domains /
Families
for SCN4A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SCN4A for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P35499ProtoNet protein and cluster: P35499 3 Blocks protein families: IPB000048 IQ calmodulin-binding region IPB001696 Voltage-gated Na+ channel alpha subunit signature IPB008052 Voltage-gated Na+ channel alpha 4 subunit signature
UniProtKB/Swiss-Prot: SCN4A_HUMAN, P35499Domain: The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positivelycharged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positivelycharged amino acids at every third positionSimilarity: Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.4/SCN4A subfamilySimilarity: Contains 1 IQ domain |
Function
for SCN4A gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: SCN4A_HUMAN, P35499Function: This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming openedor closed conformations in response to the voltage difference across the membrane, the protein forms asodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. Thissodium channel may be present in both denervated and innervated skeletal muscle Genatlas biochemistry entry for SCN4A:sodium voltage-gated channel,type IV,alpha polypeptide (see also GH@CR),adult muscle
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SCN4A
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: SCN4A (NM_000334) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SCN4A | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SCN4A |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCN4A |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005248 | voltage-gated sodium channel activity |
IEA | -- |
SCN4A for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for SCN4A:
Animal Models:
Mouse knock-out Scn4atm1Lex for SCN4A
5 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Scn4a):
SCN4A for phenotypes About GeneDecksing
|
Pathways & Interactions
for SCN4A gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Axon guidance | | | 2 | Activation of cAMP-Dependent PKA | | | 3 | Neuropathic Pain-Signaling in Dorsal Horn Neurons | | | 4 | Interaction between L1 and Ankyrins | | | 5 | Sodium channels and transporters: inward current | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for SCN4A
5/7 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SCN4A (see all 7)
4 
Reactome Pathways for SCN4A
SCN4A for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SCN4A
STRING Interaction
Network Preview (showing 5 interactants - click image to see 17)
5/24 Interacting proteins for SCN4A (P354993 ENSP000003963204) via UniProtKB, MINT, STRING, and/or I2D (see all 24)About this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table
SCN4A for ontologies About GeneDecksing
|
Drugs & Compounds
for SCN4A gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
SCN4A for compounds About GeneDecksing
Compounds for SCN4A available from Tocris Bioscience About this table
1 HMDB Compound for SCN4A About this table
5 DrugBank Compounds for SCN4A About this table
10/13 Novoseek chemical compound relationships for SCN4A gene (see all 13) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| sodium |
81.5 |
95 |
14557559 (3), 9508059 (2), 18203179 (2), 8044656 (2) (see all 75) |
| acetazolamide |
71.9 |
1 |
11353725 (1) |
| potassium |
58.8 |
7 |
15596759 (2), 12414843 (1), 8242056 (1), 17917308 (1) (see all 6) |
| chloride |
44.2 |
3 |
9196902 (1), 18337730 (1), 19966974 (1) |
| valine |
42.3 |
4 |
16624558 (1), 10218481 (1), 11294924 (1), 20445432 (1) |
| dihydropyridine |
34.8 |
7 |
8395939 (3), 12536108 (1) |
| methionine |
34.8 |
4 |
9392583 (1), 16624558 (1), 10218481 (1), 12933953 (1) |
| histidine |
31.4 |
1 |
15185439 (1) |
| succinylcholine |
27.4 |
1 |
7741283 (1) |
| arginine |
22.9 |
2 |
17591984 (1), 15185439 (1) |
Search CenterWatch for drugs/clinical trials and news about SCN4A
|
Transcripts
for SCN4A gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for SCN4A gene: NM_000334.4 Unigene Cluster for SCN4A: Sodium channel, voltage-gated, type IV, alpha subunit Hs.46038 [show with all ESTs]Unigene Representative Sequence: M817584 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000578147 ENST00000584310 ENST00000581514 ENST00000435607(uc002jds.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SCN4A (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SCN4A
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: SCN4A (NM_000334) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SCN4A | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SCN4A |
Additional cDNA sequence: AY212253.1 M81758.1 3 DOTS entries: DT.205582 DT.120934850 DT.102822636 24/207 AceView cDNA sequences (see all 207): CR606875 CR599571 CR592092 BM924097 S79249 CR617922 CR608074 CA415356 CR618467 BI836408 AY212253 BM920096 CR591997 BG392020 BX280250 BG755705 AI239619 AL559878 BX336723 AU105583 CR623737 X83539 AU099391 AW406958
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for SCN4A About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13 | ^ | 14a | · | 14b | ^ | 15a | · | 15b | ^ | 16 | ^ | 17a | · | 17b | ^ | 18a | · | 18b | ^ | 19a | · | 19b | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | - | | - | | - | | - | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 |
|---|
|
| SP1: | | | | | | | | | | | |
| SP2: | | | | | | | | | | | |
| SP3: | | | | | | | | | | | |
| SP4: | | | | | | | | | | | |
| SP5: | | | | | | | | | | |
ECgene alternative splicing isoforms for SCN4A
|
Expression
for SCN4A gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SCN4A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCTCAGCCC
About this image
See SCN4A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SCN4A
SOURCE GeneReport for Unigene cluster: Hs.46038
SABiosciences Custom PCR Arrays for SCN4A
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SCN4A
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SCN4A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SCN4A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SCN4A | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCN4A |
Orthologs
for SCN4A gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for SCN4A gene from 4/18 species (see all 18) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
Q8AV15_CHICK6 |
Uncharacterized protein |
71(a) |
1 ↔ 1 |
27(1536757-1559549) |
lizard
(Anolis carolinensis) |
Reptilia |
SCN4A6 |
-- |
76(a) |
1 ↔ 1 |
6(63466913-63533587) |
zebrafish
(Danio rerio) |
Actinopterygii |
scn4aa1 |
sodium channel, voltage-gated, type IV, alpha, a |
70.24(n)
74.65(a) |
|
572442 NM_001039825.1 NP_001034914.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
NaCP60E3
para1 |
sodium ion transport voltage-gated sodium
channel3
paralytic1 |
62(a)
(best of 3)3
57.73(n)1
52.82(a)1 |
|
60E53
326191 NM_001201694.11 NP_001188623.11 |
ENSEMBL Gene Tree for SCN4A (if available)
TreeFam Gene Tree for SCN4A (if available) |
Paralogs
for SCN4A gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SCN4A gene
- CACNA1A2 SCN9A2 SCN5A2 CACNA1D2 CACNA1I2 SCN7A2 CACNA1F2 SCN8A2
- CACNA1G2 SCN10A2 SCN3A2 CACNA1E2 SCN2A2 CACNA1S2 CACNA1C2 CACNA1H2
- SCN11A2 SCN1A2 CACNA1B2
18/21 SIMAP similar genes for SCN4A using alignment to 4 protein entries: SCN4A_HUMAN (see all proteins)
(see all similar genes):SCN1A SCN3A SCN2A SCN5A SCN8A SCN10A
SCN2A2 SCN9A SCN11A SCN7A TPCN1 CACNA1I
CACNA1A CACNA1H CACNA1G CACNA1E CACNA1C CACNA1B
SCN4A for paralogs About GeneDecksing
|
Genomic Variants
for SCN4A gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 17 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SCN4A (62015914 - 62050278 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SCN4A
1 Indel: 58811
Human Gene Mutation Database (HGMD): SCN4A
Locus Specific Mutation Databases (LSDB): SCN4A
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SCN4A |
|
Disorders
/ Diseases
for SCN4A gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SCN4A for disorders About GeneDecksing
OMIM gene information: 603967
OMIM disorders: 613345 168300 608390
UniProtKB/Swiss-Prot: SCN4A_HUMAN, P35499
Defects in SCN4A are the cause of paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]. PMC is anautosomal dominant channelopathy characterized by myotonia, increased by exposure to cold, intermittent flaccidparesis, not necessarily dependent on cold or myotonia, lability of serum potassium, nonprogressive nature and lack ofatrophy or hypertrophy of muscles. In some patients, myotonia is not increased by cold exposure (paramyotonia withoutcold paralysis). Patients may have a combination phenotype of PMC and HYPP Defects in SCN4A are a cause of periodic paralysis hypokalemic type 2 (HOKPP2) [MIM:613345]. It is anautosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serumpotassium levels Defects in SCN4A are the cause of periodic paralysis hyperkalemic (HYPP) [MIM:170500]. HYPP is an autosomaldominant channelopathy characterized by episodic flaccid generalized muscle weakness associated with high levels ofserum potassium. Concurrence of myotonia is found in HYPP patients Defects in SCN4A are the cause of periodic paralysis normokalemic (NKPP) [MIM:170500]. NKPP is a disorderclosely related to hyperkalemic periodic paralysis, but marked by a lack of alterations in potassium levels duringattacks of muscle weakness Defects in SCN4A are the cause of myotonia SCN4A-related (MYOSCN4A) [MIM:608390]. Myotonia is characterized bysustained muscle tensing that prevents muscles from relaxing normally. Myotonia causes muscle stiffness that caninterfere with movement. In some people the stiffness is very mild, while in other cases it may be severe enough tointerfere with walking, running, and other activities of daily life. MYOSCN4A is a phenotypically highly variablemyotonia aggravated by potassium loading, and often by cold. MYOSCN4A includes myotonia permanens and myotoniafluctuans. In myotonia permanens, the myotonia is generalized and there is a hypertrophy of the muscle, particularlyin the neck and the shoulder. Attacks of severe muscle stiffness of the thoracic muscles may be life threatening dueto impaired ventilation. In myotonia fluctuans, the muscle stiffness may fluctuate from day to day, provoked byexercise Defects in SCN4A are the cause of a congenital myasthenic syndrome acetazolamide-responsive (CMSAR)[MIM:614198]. A congenital myasthenic syndrome associated with fatigable generalized weakness and recurrent attacks ofrespiratory and bulbar paralysis since birth. The fatigable weakness involves lid-elevator, external ocular, facial,limb and truncal muscles and an decremental response of the compound muscle action potential on repetitive stimulation
20/38  diseases for SCN4A (see all 38): About MalaCardsmyotonia congenita, atypical, acetazolamide-responsive cramps, familial, potassium-aggravated myotonia hyperkalemic periodic paralysis
paralysis hyperkalemic periodic paralysis type 2 hypokalemic periodic paralysis normokalemic periodic paralysis
potassium aggravated myotonia paramyotonia congenita hyperkalemic periodic paralysis type 1 charcot-marie-tooth disease
hypokalemic periodic paralysis type 2 thyrotoxic periodic paralysis myotonia levior periodic paralyses
congenital myasthenic syndrome familial periodic paralysis malignant hyperthermia myasthenic syndrome
3 diseases from the University of Copenhagen DISEASES database for SCN4A:Myopathy Idiopathic generalized epilepsy Malignant hyperthermia 10/13 Novoseek disease relationships for SCN4A gene (see all 13) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| paramyotonia congenita |
98.1 |
27 |
1315122 (2), 8044656 (2), 8580427 (2), 9196904 (2) (see all 22) |
| hypokalemic periodic paralysis |
95.9 |
12 |
19118277 (2), 14557559 (2), 15072700 (2), 18203179 (1) (see all 8) |
| hyperkalemic periodic paralysis |
95.5 |
18 |
9508059 (2), 1315122 (2), 8044656 (2), 9436446 (2) (see all 13) |
| periodic paralysis |
95.4 |
19 |
10366610 (2), 17898326 (1), 9703181 (1), 20076800 (1) (see all 16) |
| normokalemic periodic paralysis |
94.5 |
7 |
15583983 (2), 19065518 (2), 14990128 (1), 15596759 (1) (see all 5) |
| myotonia congenita |
88.8 |
1 |
19840739 (1) |
| paralysis |
71.4 |
8 |
8580427 (2), 9392583 (1), 14557559 (1), 10369308 (1) (see all 5) |
| myopathy |
71 |
9 |
14617673 (1), 8044656 (1), 10930446 (1), 19290024 (1) (see all 7) |
| neuromuscular diseases |
58.9 |
1 |
1315122 (1) |
| hypokalemia |
54.4 |
1 |
15185439 (1) |
GeneTests: SCN4A
Congenital Myasthenic SyndromesHypokalemic Periodic ParalysisHyperkalemic Periodic Paralysis Type 1
Genetic Association Database (GAD): SCN4A
Human Genome Epidemiology (HuGE) Navigator: SCN4A (3 documents)
Export disorders for SCN4A gene to outside databases
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Publications
for SCN4A gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for SCN4A gene, integrated from 9 sources (see all 181):
(articles sorted by number of sources associating them with SCN4A) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification of a mutation in the gene causing hyperkalemic periodic paralysis. (PubMed id 1659948)1, 2, 3, 9 Ptacek L.J....Leppert M.F. (1991)
- A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians. (PubMed id 17998485)1, 2, 9 Rossignol E.... Brais B. (2007)
- Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A. (PubMed id 19077043)1, 2, 9 Luan X.... Yuan Y. (2009)
- Absence of ion channels CACN1AS and SCN4A mutations in thyrotoxic hypokalemic periodic paralysis. (PubMed id 15072700)1, 4, 9 Ng W.Y....Cheah J.S. (2004)
- Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile). (PubMed id 8580427)1, 2, 9 Koch M.C.... Ricker K. (1995)
- Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. (PubMed id 19118277)1, 2, 9 Matthews E....Hanna M.G. (2009)
- What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed. (PubMed id 18166706)1, 2, 9 Matthews E.... Hanna M.G. (2008)
- Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis. (PubMed id 18046642)1, 2, 9 Xiuhai G.... Yanling M. (2008)
- New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. (PubMed id 15596759)1, 2, 9 Vicart S.... Fontaine B. (2004)
- A novel SCN4A mutation causing myotonia aggravated by cold and potassium. (PubMed id 8242056)1, 2, 9 Heine R.... Lehmann-Horn F. (1993)
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External Searches for SCN4A gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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|
|
Genome Databases showing SCN4A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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|
|
Other Databases showing SCN4A gene
(According to HUGE)
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| -- |
Specialized Databases showing SCN4A gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for SCN4A | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SCN4A | | Wikipedia | http://en.wikipedia.org/wiki/SCN4A |
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About This Section
| Patent Information for SCN4A gene:
Search GeneIP for patents involving SCN4A
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for SCN4A gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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