QuickView for SCNN1A (gene)

Gene Symbol:

SCNN1A Homo sapiens

Full name:

sodium channel epithelial 1 alpha subunit

Synonyms:

BESC2, ENaCa, ENaCalpha, SCNEA, SCNN1, amiloride-sensitive sodium channel subunit alpha, alpha ENaC-2, alpha-ENaC, alpha-NaCH, amiloride-sensitive epithelial sodium channel alpha subunit, amiloride-sensitive sodium channel subunit alpha 2, epithelial Na(+) channel subunit alpha, nasal epithelial sodium channel alpha subunit, nonvoltage-gated sodium channel 1 subunit alpha, sodium channel, non voltage gated 1 alpha subunit, sodium channel, non-voltage-gated 1 alpha, sodium channel, nonvoltage-gated 1 alpha

Genomic Location:

Chr 12: 6326274-6354976

Description:

Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a ...

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Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

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Orthologs:

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

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  PR_Q2 ,  OCT1_05 ,  PR_02 ,  TGGNNNNNNKCCAR_UNKNOWN ,  EFC_Q6 ,  AP3_Q6 ,  PR_01 ,  FXR_IR1_Q6 ,  GR_Q6_01 ,  TGACCTY_ERR1_Q2 ,  AML1_01 ,  GGGAGGRR_MAZ_Q6 ,  AR_02 ,  GTAGGCA_MIR189 ,  TEF1_Q6 ,  CAGGTG_E12_Q6 ,  PXR_Q2 ,  AR_01 ,  AR_03 ,  OCT1_06 ,  RACCACAR_AML_Q6 ,  AML1_Q6 ,  GR_01 ,  WGGAATGY_TEF1_Q6 ,  PAX5_01 ,  GRE_C ,  ER_Q6_01 ,  ERR1_Q2 ,  TCF1P_Q6 ,  COREBINDINGFACTOR_Q6

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-125 ,  Predicted Gene Targets for miR-189

Cytogenetic Map:

12p13.31

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