QuickView for SCN2A (gene)

Gene Symbol:

SCN2A Homo sapiens

Full name:

sodium voltage-gated channel alpha subunit 2

Synonyms:

BFIC3, BFIS3, BFNIS, EIEE11, HBA, HBSCI, HBSCII, NAC2, Na(v)1.2, Nav1.2, SCN2A1, SCN2A2, sodium channel protein type 2 subunit alpha, HBSC II, sodium channel protein brain II subunit alpha, sodium channel protein type II subunit alpha, sodium channel protein, brain type 2 alpha subunit, sodium channel, voltage-gated, type II, alpha 1 polypeptide, sodium channel, voltage-gated, type II, alpha 2 polypeptide, sodium channel, voltage-gated, type II, alpha subunit, voltage-gated sodium channel subtype II, voltage-gated sodium channel subunit alpha Nav1.2, voltage-gated sodium channel type II alpha subunit

Genomic Location:

Chr 2: 165804158-165957066

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 function in the generation and propagation of action potentials in neurons and muscle....

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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 function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative 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:

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

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Cytogenetic Map:

2q24.3

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