C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: sodium channel, voltage-gated, type V, alpha subunit
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000183873 SCN5A 9606 - 3:38548057-38649673 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000327956 SCN5A-006 38633111-38645776 protein_coding
  ENST00000333535 SCN5A-014 38548066-38649628 protein_coding
  ENST00000413689 SCN5A-001 38548062-38649672 protein_coding
  ENST00000414099 SCN5A-004 38548057-38633349 protein_coding
  ENST00000423572 SCN5A-003 38548062-38633362 protein_coding
  ENST00000425664 SCN5A-201 38548062-38649672 protein_coding
  ENST00000443581 SCN5A-202 38548062-38649672 protein_coding
  ENST00000449557 SCN5A-010 38550321-38633316 protein_coding
  ENST00000450102 SCN5A-008 38549968-38633349 protein_coding
  ENST00000451551 SCN5A-203 38548062-38649673 protein_coding
  ENST00000455624 SCN5A-002 38549128-38633332 protein_coding
  ENST00000464652 SCN5A-011 38552981-38554549 processed_transcript
  ENST00000476683 SCN5A-013 38629842-38633220 retained_intron
  ENST00000491944 SCN5A-005 38614028-38649673 retained_intron
  ENST00000612060 SCN5A-204 38614543-38633349 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000327956ENST00000333535ENST00000413689ENST00000414099ENST00000423572ENST00000425664ENST00000443581ENST00000449557ENST00000450102ENST00000451551ENST00000455624ENST00000464652ENST00000491944ENST00000612060
Transcript ID Adipose Adrenal Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000327956 N/A N/A N/A N/A N/A N/A 0.300±0.00 N/A N/A N/A N/A N/A N/A
ENST00000333535 N/A N/A 0.115±0.00 N/A 0.026±0.00 13.010±0.00 N/A N/A N/A N/A N/A N/A N/A
ENST00000413689 N/A N/A N/A 0.051±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000414099 0.017±0.00 0.046±0.00 N/A N/A 0.029±0.00 N/A N/A N/A N/A 0.100±0.00 0.028±0.00 0.225±0.13 N/A
ENST00000423572 0.090±0.00 N/A N/A N/A 0.024±0.00 9.214±6.26 N/A N/A N/A N/A N/A N/A N/A
ENST00000425664 N/A N/A N/A N/A 0.012±0.00 N/A 0.046±0.00 N/A N/A N/A N/A N/A N/A
ENST00000443581 N/A N/A N/A N/A N/A 8.427±0.00 N/A N/A N/A N/A N/A N/A N/A
ENST00000449557 0.026±0.00 N/A 0.045±0.00 0.051±0.00 N/A 4.928±0.00 N/A 0.093±0.00 0.086±0.00 N/A N/A N/A N/A
ENST00000450102 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.189±0.00 N/A 0.043±0.00
ENST00000451551 N/A N/A N/A 0.048±0.00 N/A N/A N/A N/A N/A 0.090±0.00 0.413±0.00 N/A 0.219±0.00
ENST00000455624 N/A N/A N/A N/A 0.041±0.00 N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000464652 N/A N/A N/A 0.967±0.00 N/A N/A N/A 0.359±0.00 N/A N/A N/A N/A N/A
ENST00000491944 N/A N/A N/A N/A 0.216±0.00 N/A N/A 0.097±0.00 N/A N/A 0.119±0.00 N/A N/A
ENST00000612060 N/A 0.141±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0008BE CIL_0008BE_0001 VISTA 3:38261144-38866061
CIL_0005VU CIL_0005VU_0001 CGP 3:38496127-38649673
CIL_0004RF CIL_0004RF_0001 CGP 3:38548057-38794010

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001518 IC:IEA voltage-gated sodium channel complex
GO:0002027 IMP regulation of heart rate
GO:0003231 ISS cardiac ventricle development
GO:0003360 ISS brainstem development
GO:0005216 IEA ion channel activity
GO:0005248 IDA:IEA voltage-gated sodium channel activity
GO:0005515 IPI protein binding
GO:0005516 IPI calmodulin binding
GO:0005783 IDA endoplasmic reticulum
GO:0005886 IDA plasma membrane
GO:0005901 IDA caveola
GO:0006811 IEA ion transport
GO:0006814 IDA:IEA sodium ion transport
GO:0009986 IDA cell surface
GO:0010765 IDA positive regulation of sodium ion transport
GO:0014070 IEA response to organic cyclic compound
GO:0014704 ISS intercalated disc
GO:0014894 ISS response to denervation involved in regulation of muscle adaptation
GO:0016020 IEA membrane
GO:0016021 IDA integral component of membrane
GO:0016328 TAS lateral plasma membrane
GO:0017134 IPI fibroblast growth factor binding
GO:0019228 IBA neuronal action potential
GO:0019899 IPI enzyme binding
GO:0019901 IPI protein kinase binding
GO:0021537 ISS telencephalon development
GO:0021549 ISS cerebellum development
GO:0030315 IDA T-tubule
GO:0030506 IDA ankyrin binding
GO:0031625 IPI ubiquitin protein ligase binding
GO:0034706 IEA sodium channel complex
GO:0034765 IEA regulation of ion transmembrane transport
GO:0035725 IDA sodium ion transmembrane transport
GO:0042383 IDA sarcolemma
GO:0042475 ISS odontogenesis of dentin-containing tooth
GO:0044325 IPI ion channel binding
GO:0045760 ISS positive regulation of action potential
GO:0050679 ISS positive regulation of epithelial cell proliferation
GO:0050998 IPI nitric-oxide synthase binding
GO:0051899 IDA membrane depolarization
GO:0055085 IEA transmembrane transport
GO:0060048 IMP cardiac muscle contraction
GO:0060307 IMP regulation of ventricular cardiac muscle cell membrane repolarization
GO:0060371 IMP regulation of atrial cardiac muscle cell membrane depolarization
GO:0060372 IMP regulation of atrial cardiac muscle cell membrane repolarization
GO:0060373 IMP regulation of ventricular cardiac muscle cell membrane depolarization
GO:0071277 IDA cellular response to calcium ion
GO:0086002 IMP cardiac muscle cell action potential involved in contraction
GO:0086004 IMP regulation of cardiac muscle cell contraction
GO:0086005 IMP ventricular cardiac muscle cell action potential
GO:0086006 IDA voltage-gated sodium channel activity involved in cardiac muscle cell action potential
GO:0086010 IDA membrane depolarization during action potential
GO:0086012 IMP membrane depolarization during cardiac muscle cell action potential
GO:0086046 ISS membrane depolarization during SA node cell action potential
GO:0086063 IEA voltage-gated sodium channel activity involved in SA node cell action potential
GO:0086067 IMP AV node cell to bundle of His cell communication
GO:0086069 IMP bundle of His cell to Purkinje myocyte communication
GO:0086070 IMP SA node cell to atrial cardiac muscle cell communication
GO:0086091 IMP regulation of heart rate by cardiac conduction
GO:0097110 IPI scaffold protein binding
GO:1902305 IDA regulation of sodium ion transmembrane transport

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000078758 SCN11A sodium channel, voltage-gated, type XI, alpha subunit protein_coding Danio_rerio
ENSMUSG00000032511 Scn5a sodium channel, voltage-gated, type V, alpha protein_coding Mus_musculus

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