SLC12A3

GENE INFORMATION

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Gene name

SLC12A3 (HGNC Symbol)

Synonyms

NCCT

Description

solute carrier family 12 (sodium/chloride transporters), member 3 (HGNC Symbol)

Entrez gene summary

This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Chromosome

16 (Chromosome progress)

Cytoband

q13

Chromosome location (bp)

56899119 - 56949762

Ensembl

ENSG00000070915 (version 73.37)

Entrez gene

6559

UniProt

P55017 (UniProt - Evidence at protein level)

neXtProt

NX_P55017

Antibodypedia

SLC12A3 antibodies
 

PROTEIN VIEW

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SLC12A3-001
 
SLC12A3-002
 
SLC12A3-003
 
SLC12A3-005
 
 
 
 
 

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)

SLC12A3-001 ENSP00000402152
ENST00000438926
P55017
Show all »
Show » Show » 1030 113.9 No >9
SLC12A3-002 ENSP00000457552
ENST00000566786
P55017
Show all »
Show » Show » 1029 113.8 No >9
SLC12A3-003 ENSP00000262502
ENST00000262502
J3QSS1
Show all »
Show » Show » 1020 113 No >9
SLC12A3-005 ENSP00000456149
ENST00000563236
P55017
Show all »
Show » Show » 1021 113.1 No >9