QuickView for Slc12a1 (gene)

Gene Symbol:

SLC12A1 Homo sapiens

Full name:

solute carrier family 12 member 1

Synonyms:

BSC1, NKCC2, solute carrier family 12 member 1, NKCC2A variant A, Na-K-2Cl cotransporter, bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2, kidney-specific Na-K-Cl symporter, solute carrier family 12 (sodium/potassium/chloride transporter), member 1, solute carrier family 12 (sodium/potassium/chloride transporters), member 1

Genomic Location:

Chr 15: 46285790-46383567

Description:

This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and...

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This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.

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Orthologs:

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

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

CEBPA_01 ,  YTATTTTNR_MEF2_02 ,  NFY_C ,  CEBP_Q2_01 ,  YATTNATC_UNKNOWN ,  AR_Q6 ,  CEBPB_01 ,  GGATTA_PITX2_Q2 ,  CEBPB_02 ,  NFY_Q6 ,  TGTTTGY_HNF3_Q6 ,  YCATTAA_UNKNOWN ,  CEBP_Q3 ,  CEBP_C

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Cytogenetic Map:

15q21.1

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