Human Gene SCN5A (ENST00000423572.7_10) from GENCODE V47lift37
  Description: sodium voltage-gated channel alpha subunit 5, transcript variant 2 (from RefSeq NM_000335.5)
Gencode Transcript: ENST00000423572.7_10
Gencode Gene: ENSG00000183873.20_19
Transcript (Including UTRs)
   Position: hg19 chr3:38,589,553-38,691,178 Size: 101,626 Total Exon Count: 28 Strand: -
Coding Region
   Position: hg19 chr3:38,591,812-38,674,798 Size: 82,987 Coding Exon Count: 27 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:38,589,553-38,691,178)mRNA (may differ from genome)Protein (2015 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SCN5A_HUMAN
DESCRIPTION: RecName: Full=Sodium channel protein type 5 subunit alpha; AltName: Full=HH1; AltName: Full=Sodium channel protein cardiac muscle subunit alpha; AltName: Full=Sodium channel protein type V subunit alpha; AltName: Full=Voltage-gated sodium channel subunit alpha Nav1.5;
FUNCTION: This protein 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. It is a tetrodotoxin-resistant Na(+) channel isoform. This channel is responsible for the initial upstroke of the action potential. Channel inactivation is regulated by intracellular calcium levels.
SUBUNIT: Interacts with the PDZ domain of the syntrophin SNTA1, SNTB1 and SNTB2 (By similarity). Interacts with NEDD4, NEDD4L, WWP2 and GPD1L. Interacts with CALM. Interacts with FGF13; the interaction is direct and may regulate SNC5A density at membranes and function.
INTERACTION: P62158:CALM3; NbExp=2; IntAct=EBI-726858, EBI-397435;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Found in jejunal circular smooth muscle cells (at protein level). Expressed in human atrial and ventricular cardiac muscle but not in adult skeletal muscle, brain, myometrium, liver, or spleen. Isoform 4 is expressed in brain.
DOMAIN: The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.
PTM: Regulated through phosphorylation by CaMK2D (By similarity).
PTM: Ubiquitinated by NEDD4L; which promotes its endocytosis. Does not seem to be ubiquitinated by NEDD4 or WWP2.
DISEASE: Defects in SCN5A are a cause of progressive familial heart block type 1A (PFHB1A) [MIM:113900]; also known as Lenegre- Lev disease or progressive cardiac conduction defect (PCCD). PFHB1A is an autosomal dominant cardiac bundle branch disorder that may progress to complete heart block. PFHB1A is characterized by progressive alteration of cardiac conduction through the His- Purkinje system with right or left bundle branch block and widening of QRS complexes, leading to complete atrioventricular block and causing syncope and sudden death.
DISEASE: Defects in SCN5A are the cause of long QT syndrome type 3 (LQT3) [MIM:603830]. Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress. LQT3 inheritance is an autosomal dominant.
DISEASE: Defects in SCN5A are the cause of Brugada syndrome type 1 (BRGDA1) [MIM:601144]. An autosomal dominant tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs (called ventricular fibrillation), the individual will faint and may die in a few minutes if the heart is not reset.
DISEASE: Defects in SCN5A are the cause of sick sinus syndrome type 1 (SSS1) [MIM:608567]. The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors, in which case it is considered to be a congenital disorder.
DISEASE: Defects in SCN5A are the cause of familial paroxysmal ventricular fibrillation type 1 (VF1) [MIM:603829]. A cardiac arrhythmia marked by fibrillary contractions of the ventricular muscle due to rapid repetitive excitation of myocardial fibers without coordinated contraction of the ventricle and by absence of atrial activity.
DISEASE: Defects in SCN5A may be a cause of sudden infant death syndrome (SIDS) [MIM:272120]. SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive. Long QT syndromes-associated mutations can be responsible for some of SIDS cases.
DISEASE: Defects in SCN5A may be a cause of familial atrial standstill (FAS) [MIM:108770]. Atrial standstill is an extremely rare arrhythmia, characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm.
DISEASE: Defects in SCN5A are the cause of cardiomyopathy dilated type 1E (CMD1E) [MIM:601154]; also known as dilated cardiomyopathy with conduction disorder and arrhythmia or dilated cardiomyopathy with conduction defect 2. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
DISEASE: Defects in SCN5A are the cause of familial atrial fibrillation type 10 (ATFB10) [MIM:614022]. ATFB10 is a familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.
MISCELLANEOUS: Na(+) channels in mammalian cardiac membrane have functional properties quite distinct from Na(+) channels in nerve and skeletal muscle.
SIMILARITY: Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.5/SCN5A subfamily.
SIMILARITY: Contains 1 IQ domain.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SCN5A";

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SCN5A
Diseases sorted by gene-association score: long qt syndrome-3* (1376), brugada syndrome 1* (1363), heart block, progressive, type ia* (1320), atrial fibrillation, familial, 10* (1231), sick sinus syndrome 1* (1230), sudden infant death syndrome* (944), brugada syndrome* (941), ventricular fibrillation, familial, 1* (820), familial sick sinus syndrome* (794), cardiomyopathy, dilated, 1e* (712), long qt syndrome* (514), scn5a-associated dilated cardiomyopathy* (500), scn5a-related dilated cardiomyopathy* (500), scn5a-related familial atrial fibrillation* (500), sick sinus syndrome 1, autosomal recessive* (500), sick sinus syndrome* (483), atrial standstill* (389), familial progressive cardiac conduction defect* (375), idiopathic ventricular fibrillation, non brugada type* (375), atrial fibrillation* (321), brugada syndrome 5* (283), paroxysmal ventricular fibrillation* (265), familial isolated dilated cardiomyopathy* (247), familial long qt syndrome* (242), long qt syndrome 1* (233), myh7-related dilated cardiomyopathy* (231), arrhythmogenic right ventricular cardiomyopathy* (207), familial atrial fibrillation* (191), dilated cardiomyopathy* (117), scn5a-related disorders* (100), scn5a-related brugada syndrome* (100), scn5a-related romano ward syndrome* (100), atrial standstill, digenic* (90), progressive familial heart block (66), right bundle branch block (48), atrioventricular block (33), sudden cardiac death (28), heart disease (15), syncope (14), brugada syndrome 2 (13), cardiac arrest (12), heart conduction disease (11), cardiac conduction disease with or without dilated cardiomyopathy (11), first-degree atrioventricular block (11), cardiac conduction defect (11), sinoatrial node disease (10), ventricular tachycardia, catecholaminergic polymorphic, 1 (10), intrinsic cardiomyopathy (10), familial hemiplegic migraine (9), peripartum cardiomyopathy (9), keshan disease (9), long qt syndrome 2 (8), long qt syndrome 13 (8), long qt syndrome 6 (8), long qt syndrome 5 (7), hemiplegic migraine (7), jervell and lange-nielsen syndrome (6), long qt syndrome 12 (6), long qt syndrome 9 (6), arrhythmogenic right ventricular dysplasia 5 (6), third-degree atrioventricular block (6), critical illness polyneuropathy (5), left ventricular noncompaction (5), short qt syndrome (5), cardiomyopathy (5), andersen syndrome (4), catecholaminergic polymorphic ventricular tachycardia (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.98 RPKM in Heart - Left Ventricle
Total median expression: 58.49 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -88.20209-0.422 Picture PostScript Text
3' UTR -897.202259-0.397 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR024583 - DUF3451
IPR005821 - Ion_trans_dom
IPR000048 - IQ_motif_EF-hand-BS
IPR008053 - Na_channel_a5su
IPR001696 - Na_channel_asu
IPR010526 - Na_trans_assoc

Pfam Domains:
PF00520 - Ion transport protein
PF00612 - IQ calmodulin-binding motif
PF06512 - Sodium ion transport-associated
PF08016 - Polycystin cation channel
PF11933 - Cytoplasmic domain of voltage-gated Na+ ion channel

SCOP Domains:
81324 - Voltage-gated potassium channels

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2KBI - NMR MuPIT 2L53 - NMR MuPIT 4DCK - X-ray MuPIT 4DJC - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q14524
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005216 ion channel activity
GO:0005244 voltage-gated ion channel activity
GO:0005248 voltage-gated sodium channel activity
GO:0005272 sodium channel activity
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0017134 fibroblast growth factor binding
GO:0019899 enzyme binding
GO:0019901 protein kinase binding
GO:0019904 protein domain specific binding
GO:0030506 ankyrin binding
GO:0031625 ubiquitin protein ligase binding
GO:0044325 ion channel binding
GO:0050998 nitric-oxide synthase binding
GO:0086006 voltage-gated sodium channel activity involved in cardiac muscle cell action potential
GO:0086060 voltage-gated sodium channel activity involved in AV node cell action potential
GO:0086061 voltage-gated sodium channel activity involved in bundle of His cell action potential
GO:0086062 voltage-gated sodium channel activity involved in Purkinje myocyte action potential
GO:0086063 voltage-gated sodium channel activity involved in SA node cell action potential
GO:0097110 scaffold protein binding

Biological Process:
GO:0002027 regulation of heart rate
GO:0003231 cardiac ventricle development
GO:0003360 brainstem development
GO:0006811 ion transport
GO:0006814 sodium ion transport
GO:0010765 positive regulation of sodium ion transport
GO:0014894 response to denervation involved in regulation of muscle adaptation
GO:0019228 neuronal action potential
GO:0021537 telencephalon development
GO:0021549 cerebellum development
GO:0034765 regulation of ion transmembrane transport
GO:0035725 sodium ion transmembrane transport
GO:0042475 odontogenesis of dentin-containing tooth
GO:0045760 positive regulation of action potential
GO:0050679 positive regulation of epithelial cell proliferation
GO:0051899 membrane depolarization
GO:0055085 transmembrane transport
GO:0060048 cardiac muscle contraction
GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization
GO:0060371 regulation of atrial cardiac muscle cell membrane depolarization
GO:0060372 regulation of atrial cardiac muscle cell membrane repolarization
GO:0060373 regulation of ventricular cardiac muscle cell membrane depolarization
GO:0071277 cellular response to calcium ion
GO:0086002 cardiac muscle cell action potential involved in contraction
GO:0086004 regulation of cardiac muscle cell contraction
GO:0086005 ventricular cardiac muscle cell action potential
GO:0086010 membrane depolarization during action potential
GO:0086012 membrane depolarization during cardiac muscle cell action potential
GO:0086014 atrial cardiac muscle cell action potential
GO:0086015 SA node cell action potential
GO:0086016 AV node cell action potential
GO:0086043 bundle of His cell action potential
GO:0086045 membrane depolarization during AV node cell action potential
GO:0086046 membrane depolarization during SA node cell action potential
GO:0086047 membrane depolarization during Purkinje myocyte cell action potential
GO:0086048 membrane depolarization during bundle of His cell action potential
GO:0086067 AV node cell to bundle of His cell communication
GO:0086091 regulation of heart rate by cardiac conduction
GO:0098912 membrane depolarization during atrial cardiac muscle cell action potential
GO:1902305 regulation of sodium ion transmembrane transport

Cellular Component:
GO:0001518 voltage-gated sodium channel complex
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005886 plasma membrane
GO:0005901 caveola
GO:0009986 cell surface
GO:0014704 intercalated disc
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016328 lateral plasma membrane
GO:0030018 Z disc
GO:0030315 T-tubule
GO:0042383 sarcolemma
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AY038064 - Homo sapiens voltage-gated sodium channel type V alpha subunit jejunal variant (SCN5A) mRNA, complete cds.
M77235 - Human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit (HH1) mRNA, complete cds.
BC140813 - Homo sapiens sodium channel, voltage-gated, type V, alpha subunit, mRNA (cDNA clone MGC:176490 IMAGE:9021681), complete cds.
BC144621 - Homo sapiens sodium channel, voltage-gated, type V, alpha subunit, mRNA (cDNA clone MGC:178169 IMAGE:9053152), complete cds.
AB158469 - Homo sapiens Nav1.5 mRNA for TTX-resistant sodium channel, complete cds.
AB158470 - Homo sapiens Nav1.5 mRNA for TTX-resistant sodium channel splicing variant, complete cds.
AY148488 - Homo sapiens cardiac sodium channel alpha subunit Nav1.5 mRNA, complete cds.
AF482988 - Homo sapiens cardiac sodium channel alpha subunit (H1B) mRNA, complete cds.
GU014840 - Synthetic construct Homo sapiens clone IMAGE:100068744; MGC:198458 voltage-gated sodium channel type V alpha isoform a (SCN5A) gene, encodes complete protein.
KC858891 - Homo sapiens cell-line THP-1 NaV1.5 variant (SCN5A) mRNA, complete cds, alternatively spliced.
EF629346 - Homo sapiens Nav1.5 Na+ channel mRNA, complete cds, alternatively spliced.
EF629347 - Homo sapiens Nav1.5 Na+ channel mRNA, complete cds, alternatively spliced.
BC051374 - Homo sapiens sodium channel, voltage-gated, type V, alpha subunit, mRNA (cDNA clone IMAGE:6671632), complete cds.
AB208866 - Homo sapiens mRNA for voltage-gated sodium channel type V alpha isoform b variant protein.
EF092293 - Homo sapiens cardiac sodium channel alpha subunit variant (SCN5A) mRNA, partial cds, alternatively spliced.
JD401368 - Sequence 382392 from Patent EP1572962.
JD383402 - Sequence 364426 from Patent EP1572962.
JD179197 - Sequence 160221 from Patent EP1572962.
JD106744 - Sequence 87768 from Patent EP1572962.
JD538580 - Sequence 519604 from Patent EP1572962.
JD406432 - Sequence 387456 from Patent EP1572962.
JD119567 - Sequence 100591 from Patent EP1572962.
JD347578 - Sequence 328602 from Patent EP1572962.
JD290189 - Sequence 271213 from Patent EP1572962.
JD500799 - Sequence 481823 from Patent EP1572962.
JD438771 - Sequence 419795 from Patent EP1572962.
JD099772 - Sequence 80796 from Patent EP1572962.
JD246522 - Sequence 227546 from Patent EP1572962.
JD455035 - Sequence 436059 from Patent EP1572962.
JD122872 - Sequence 103896 from Patent EP1572962.
JD482796 - Sequence 463820 from Patent EP1572962.
JD087510 - Sequence 68534 from Patent EP1572962.
JD551687 - Sequence 532711 from Patent EP1572962.
JD515136 - Sequence 496160 from Patent EP1572962.
JD210967 - Sequence 191991 from Patent EP1572962.
JD470797 - Sequence 451821 from Patent EP1572962.
JD215973 - Sequence 196997 from Patent EP1572962.
JD464715 - Sequence 445739 from Patent EP1572962.
JD477972 - Sequence 458996 from Patent EP1572962.
JD076908 - Sequence 57932 from Patent EP1572962.
JD456005 - Sequence 437029 from Patent EP1572962.
JD539188 - Sequence 520212 from Patent EP1572962.
JD554794 - Sequence 535818 from Patent EP1572962.
JD078642 - Sequence 59666 from Patent EP1572962.
JD050389 - Sequence 31413 from Patent EP1572962.
JD354751 - Sequence 335775 from Patent EP1572962.
JD126988 - Sequence 108012 from Patent EP1572962.
JD037752 - Sequence 18776 from Patent EP1572962.
JD494153 - Sequence 475177 from Patent EP1572962.
JD317512 - Sequence 298536 from Patent EP1572962.
JD406960 - Sequence 387984 from Patent EP1572962.
JD040911 - Sequence 21935 from Patent EP1572962.
JD401354 - Sequence 382378 from Patent EP1572962.
EF092294 - Homo sapiens cardiac sodium channel alpha subunit variant (SCN5A) mRNA, partial cds, alternatively spliced.
EF092292 - Homo sapiens cardiac sodium channel alpha subunit variant (SCN5A) mRNA, partial cds, alternatively spliced.
AJ310896 - Homo sapiens partial mRNA for voltage-gated sodium Nav1.5 (SCN5A gene) (SCN5A gene), cell line MDA-MB-231.
AJ310886 - Homo sapiens partial mRNA for voltage gated sodium channel Nav1.5 (SCN5A gene), D1 neonatal splice variant, cell line MDA-MB-231.
AJ310887 - Homo sapiens partial mRNA for voltage-gated sodium channel Nav1.5 (SCN5A gene) D1 neonatal splice variant, cell line MCF-7.
AJ310888 - Homo sapiens partial mRNA for voltage-gated sodium channel Nav1.5 (SCN5A gene), D1 neonatal splice variant, biopsy sample 2.
AJ310889 - Homo sapiens partial mRNA for voltage-gated sodium channel Nav1.5 (SCN5A gene), D1 neonatal splice variant, biopsy sample 3.
AJ310890 - Homo sapiens partial mRNA for voltage-gated sodium channel Nav1.5 (SCN5A gene) D1 adult splice variant, biopsy sample 1.
AJ310891 - Homo sapiens partial mRNA for voltage gated sodium channel Nav1.5 (SCN5A gene), D1 adult splice variant, biopsy sample 7.
AJ310892 - Homo sapiens partial mRNA for voltage-gated sodium channel Nav1.5 (SCN5A gene), D1 neonatal splice variant, biopsy sample 6.
AJ310893 - Homo sapiens partial mRNA for voltage gated sodium channel Nav1.5 (SCN5A gene), D1 S3 exon-skipped splice variant, biopsy sample 8.
AJ310894 - Homo sapiens partial mRNA for voltage-gated sodium channel Nav1.5 (SCN5A gene), D1 neonatal splice variant, biopsy sample 4.
AJ310895 - Homo sapiens partial mRNA voltage-gated sodium channel Nav1.5 (SCN5A gene), D1 neonatal splice variant, biopsy sample 5.
EF092295 - Homo sapiens cardiac sodium channel alpha subunit (SCN5A) mRNA, partial cds, alternatively spliced.
GU447319 - Homo sapiens sodium channel alpha subunit variant 1 (SCN5A) mRNA, 5' UTR, alternatively spliced.
GU447320 - Homo sapiens sodium channel alpha subunit variant 2 (SCN5A) mRNA, 5' UTR, alternatively spliced.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q14524 (Reactome details) participates in the following event(s):

R-HSA-373739 Ankyrins link voltage-gated sodium and potassium channels to spectrin and L1
R-HSA-5576895 SCNAs:SNCBs transport Na+ from extracellular region to cytosol
R-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-5576892 Phase 0 - rapid depolarisation
R-HSA-373760 L1CAM interactions
R-HSA-5576891 Cardiac conduction
R-HSA-422475 Axon guidance
R-HSA-397014 Muscle contraction
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: A5H1P8, A6N922, A6N923, B2RTU0, E7ET19, E9PEF3, E9PEK2, E9PFW7, ENST00000423572.1, ENST00000423572.2, ENST00000423572.3, ENST00000423572.4, ENST00000423572.5, ENST00000423572.6, NM_000335, Q14524, Q59H93, Q75RX9, Q75RY0, Q86UR3, Q8IZC9, Q96J69, SCN5A_HUMAN, uc319swj.1, uc319swj.2
UCSC ID: ENST00000423572.7_10
RefSeq Accession: NM_000335.5
Protein: Q14524 (aka SCN5A_HUMAN or CIN5_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SCN5A:
brugada (Brugada Syndrome)
dcm-ov (Dilated Cardiomyopathy Overview)
rws (Long QT Syndrome Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.