QuickView for SCN2A;jsessionid=0B02C1D8215C8B1198A007FB6181BEB0;jsessionid=AD1D6739EE0D85F1B0819A8AEF12F3BC (gene)

Gene Symbol:

Scn2a Mus musculus

Full name:

sodium channel, voltage-gated, type II, alpha

Synonyms:

6430408L10, A230052E19Rik, Nav1.2, Scn2a1, sodium channel protein type 2 subunit alpha, sodium channel, voltage-gated, type II, alpha 1, sodium channel, voltage-gated, type II, alpha polypeptide 1, voltage-gated sodium channel Nav1.2 variant a, voltage-gated sodium channel Nav1.2 variant b

Genomic Location:

Chr 2: 65508553-65605508

Description:

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels are responsible for the generation and propagation of action potentials in neurons and...

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Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. In humans, variants of this gene are associated with seizure disorders and autism spectrum disorder. Mice homozygous for a knockout mutation die with severe hypoxia and extensive neuronal cell death, while gain of function mutations result in progressive seizure disorder. Alternative splicing results in multiple transcript variants.

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Orthologs:

Homo sapiens ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

STAT_01 ,  ISRE_01 ,  P53_02 ,  RFX1_01 ,  ETS1_B ,  ETS2_B ,  STAT5A_02 ,  POU3F2_02 ,  PITX2_Q2 ,  CTGCAGY_UNKNOWN ,  STAT6_02 ,  CYTAGCAAY_UNKNOWN ,  TCF1P_Q6 ,  TEF_Q6 ,  COREBINDINGFACTOR_Q6 ,  ETS_Q4 ,  TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P ,  RYTAAWNNNTGAY_UNKNOWN ,  TTANTCA_UNKNOWN ,  RYTTCCTG_ETS2_B ,  AAAYWAACM_HFH4_01 ,  TGGAAA_NFAT_Q4_01

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