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 II, alpha subunit
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000136531 SCN2A 9606 + 2:165239402-165392308 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000283256 SCN2A-001 165294031-165392053 protein_coding
  ENST00000375427 SCN2A-002 165295773-165390029 protein_coding
  ENST00000375437 SCN2A-201 165239402-165392308 protein_coding
  ENST00000424833 SCN2A-003 165239402-165315598 protein_coding
  ENST00000480032 SCN2A-005 165294044-165381003 retained_intron
  ENST00000486878 SCN2A-004 165308666-165310745 retained_intron

Homo sapiens EnsemblGRCh38

Genome
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Genes
Gene structures from Ensembl
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Transcripts
Structures from Ensembl
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Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000283256ENST00000375427ENST00000375437ENST00000424833ENST00000480032ENST00000486878
Transcript ID Adipose Adrenal Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000283256 0.004±0.00 0.037±0.00 12.338±6.01 0.110±0.05 0.048±0.02 0.018±0.00 0.857±0.00 0.089±0.00 0.039±0.01 0.016±0.00 0.380±0.22 0.019±0.00 0.146±0.09
ENST00000375427 N/A N/A N/A 0.026±0.00 N/A N/A N/A N/A 0.026±0.00 N/A 0.214±0.00 N/A 0.230±0.00
ENST00000375437 N/A N/A 6.533±1.08 N/A N/A N/A 0.272±0.00 N/A N/A N/A 0.070±0.03 0.067±0.00 0.060±0.00
ENST00000424833 N/A N/A N/A N/A N/A 0.066±0.05 0.289±0.00 N/A N/A N/A N/A N/A N/A
ENST00000480032 N/A N/A N/A 0.078±0.00 N/A 0.030±0.00 N/A 0.034±0.00 N/A N/A 0.155±0.00 0.012±0.00 N/A
ENST00000486878 0.058±0.00 N/A N/A N/A N/A N/A N/A N/A 0.071±0.00 N/A N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0006CO CIL_0006CO_0001 CGP 2:165087522-165392308
CIL_0006CJ CIL_0006CJ_0001 CGP 2:165239402-165689407

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001518 IEA voltage-gated sodium channel complex
GO:0005216 IEA ion channel activity
GO:0005248 ISS:IEA voltage-gated sodium channel activity
GO:0005515 IEA protein binding
GO:0005886 IBA plasma membrane
GO:0005887 TAS integral component of plasma membrane
GO:0006811 IEA ion transport
GO:0006814 TAS:IEA sodium ion transport
GO:0007399 IEA nervous system development
GO:0008627 IEA intrinsic apoptotic signaling pathway in response to osmotic stress
GO:0014704 IEA intercalated disc
GO:0016020 IEA membrane
GO:0019228 IBA neuronal action potential
GO:0030315 IEA T-tubule
GO:0030424 TAS axon
GO:0031226 ISS intrinsic component of plasma membrane
GO:0033268 ISS node of Ranvier
GO:0033270 IEA paranode region of axon
GO:0034706 ISS sodium channel complex
GO:0034765 IEA regulation of ion transmembrane transport
GO:0035725 IEA:ISS sodium ion transmembrane transport
GO:0042552 ISS myelination
GO:0051402 IEA neuron apoptotic process
GO:0055085 IEA transmembrane transport
GO:0086010 IBA membrane depolarization during action potential

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000010783 scn1a sodium channel, voltage-gated, type I, alpha protein_coding Danio_rerio
ENSDARG00000062744 scn1lab sodium channel, voltage-gated, type I like, alpha b protein_coding Danio_rerio
ENSMUSG00000075318 Scn2a1 sodium channel, voltage-gated, type II, alpha 1 protein_coding Mus_musculus

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