QuickView for SCN5A (gene)

Gene Symbol:

SCN5A Homo sapiens

Full name:

sodium voltage-gated channel alpha subunit 5

Synonyms:

CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, VF1, sodium channel protein type 5 subunit alpha, cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit, sodium channel protein cardiac muscle subunit alpha, sodium channel, voltage-gated, type V, alpha subunit, voltage-gated sodium channel subunit alpha Nav1.5

Genomic Location:

Chr 3: 38564557-38666167

Description:

The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autoso...

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The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms.

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Orthologs:

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

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

CMYB_01 ,  TGANTCA_AP1_C ,  MYOD_01 ,  TAL1ALPHAE47_01 ,  AREB6_02 ,  TTTGTAG_MIR520D ,  AP2GAMMA_01 ,  E2A_Q2 ,  AP2ALPHA_01 ,  EGR2_01 ,  TGACCTY_ERR1_Q2 ,  GGGAGGRR_MAZ_Q6 ,  TAL1BETAE47_01 ,  CAGGTG_E12_Q6 ,  CTACCTC_LET7A_LET7B_LET7C_LET7D_LET7E_LET7F_MIR98_LET7G_LET7I ,  E47_02 ,  SP3_Q3 ,  GACAATC_MIR219 ,  E47_01 ,  ATATGCA_MIR448 ,  AAAYRNCTG_UNKNOWN ,  CAGCTG_AP4_Q5 ,  AACTTT_UNKNOWN ,  ERR1_Q2 ,  ACCTGTTG_UNKNOWN ,  TGACCTTG_SF1_Q6 ,  EGR3_01 ,  TATTATA_MIR374

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for let-7 ,  Predicted Gene Targets for miR-125 ,  Predicted Gene Targets for miR-153 ,  Predicted Gene Targets for miR-200b ,  Predicted Gene Targets for miR-214 ,  Predicted Gene Targets for miR-219 ,  Predicted Gene Targets for miR-369-3p ,  Predicted Gene Targets for miR-378* ,  Predicted Gene Targets for miR-448 ,  Predicted Gene Targets for miR-374

Cytogenetic Map:

3p22.2

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