SLC12A1

GENE INFORMATION

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Gene name

SLC12A1 (HGNC Symbol)

Synonyms

NKCC2

Description

solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (HGNC Symbol)

Entrez gene summary

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.[provided by RefSeq, May 2010]

Chromosome

15 (Chromosome progress)

Cytoband

q21.1

Chromosome location (bp)

48483861 - 48596275

Ensembl

ENSG00000074803 (version 73.37)

Entrez gene

6557

UniProt

Q13621 (UniProt - Evidence at protein level)

neXtProt

NX_Q13621

Antibodypedia

SLC12A1 antibodies
 

PROTEIN VIEW

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SLC12A1-001
 
SLC12A1-002
 
SLC12A1-005
 
SLC12A1-006
 
SLC12A1-009
 
SLC12A1-011
 
SLC12A1-012
 
SLC12A1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SLC12A1-001 ENSP00000379822
ENST00000396577
E9PDW4
Show all »
Show » Show » 1099 121.4 No >9
SLC12A1-002 ENSP00000331550
ENST00000330289
Q8IUN5
Show all »
Show » Show » 430 46.5 No 6
SLC12A1-005 ENSP00000453230
ENST00000559641
H0YLJ2
Show all »
Show » Show » 648 70.4 No 9
SLC12A1-006 ENSP00000453409
ENST00000558405
Q13621
Show all »
Show » Show » 1099 121.4 No >9
SLC12A1-009 ENSP00000453602
ENST00000561127
98 11.1 No 0
SLC12A1-011 ENSP00000454178
ENST00000561031
H0YNW0
Show all »
Show » Show » 217 24.3 No 1
SLC12A1-012 ENSP00000454054
ENST00000558805
Show » Show » 103 10.9 No 3
SLC12A1-201 ENSP00000370381
ENST00000380993
Q13621
Show all »
Show » Show » 1099 121.4 No >9