QuickView for Nav1.6 (gene)

Gene Symbol:

SCN8A Homo sapiens

Full name:

sodium voltage-gated channel alpha subunit 8

Synonyms:

BFIS5, CERIII, CIAT, EIEE13, MED, NaCh6, Nav1.6, PN4, sodium channel protein type 8 subunit alpha, hNa6/Scn8a voltage-gated sodium channel, sodium channel, voltage gated, type VIII, alpha subunit, voltage-gated sodium channel subunit alpha Nav1.6, voltage-gated sodium channel type VIII alpha protein

Genomic Location:

Chr 12: 50271287-50488574

Description:

This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cogni...

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This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.

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Orthologs:

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

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

RYTTCCTG_ETS2_B ,  GCANCTGNY_MYOD_Q6 ,  TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P ,  AML1_01 ,  WTGAAAT_UNKNOWN ,  GGGAGGRR_MAZ_Q6 ,  TATAAA_TATA_01 ,  TGCAAAC_MIR452 ,  TTGGAGA_MIR5155P_MIR519E ,  GGGYGTGNY_UNKNOWN ,  GTTTGTT_MIR495 ,  GCAAAAA_MIR129 ,  AML1_Q6 ,  WGGAATGY_TEF1_Q6 ,  AAAYRNCTG_UNKNOWN ,  TATA_01 ,  CTGCAGY_UNKNOWN ,  WCAANNNYCAG_UNKNOWN ,  EGR1_01 ,  AACTTT_UNKNOWN ,  TGACATY_UNKNOWN ,  CAATGCA_MIR33 ,  GGGTGGRR_PAX4_03

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-129 ,  Predicted Gene Targets for miR-138 ,  Predicted Gene Targets for miR-20 ,  Predicted Gene Targets for miR-21 ,  Predicted Gene Targets for miR-30 ,  Predicted Gene Targets for miR-33 ,  Predicted Gene Targets for miR-382 ,  Predicted Gene Targets for miR-450 ,  Predicted Gene Targets for miR-452 ,  Predicted Gene Targets for miR-495 ,  Predicted Gene Targets for miR-544

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Cytogenetic Map:

12q13.13

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