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SLC12A3

GENERAL INFORMATION

Gene name

 SLC12A3

Gene description

 Solute carrier family 12 (sodium/chloride transporter), member 3

Protein class

 Disease related genes
FDA approved drug targets
Plasma proteins
Predicted membrane proteins
Transporters

Predicted localization

 Membrane

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enriched (kidney)
GTEx:Tissue enriched (kidney)
FANTOM5:Tissue enriched (kidney)

Protein evidence

 Evidence at protein level

Protein expression

 Selective expression in a subset of renal tubules.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 1 antibody.
HPA028748
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (kidney)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (kidney)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (kidney)

GENE INFORMATION

Gene name

 SLC12A3 (HGNC Symbol)

Synonyms

 NCCT

Description

 Solute carrier family 12 (sodium/chloride transporter), 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

Cytoband

 q13

Chromosome location (bp)

 56865207 - 56915850

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000070915 (version 83.38)

Entrez gene

 6559

UniProt

 P55017 (UniProt - Evidence at protein level)

neXtProt

 NX_P55017

Antibodypedia

 SLC12A3 antibodies

PROTEIN BROWSER
SLC12A3-001
SLC12A3-002
SLC12A3-003
SLC12A3-005

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
SLC12A3-001
ENSP00000402152
ENST00000438926
P55017 [Direct mapping]
Solute carrier family 12 member 3
Show all
Transporters
   Electrochemical Potential-driven transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005215 [transporter activity]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0006814 [sodium ion transport]
GO:0006821 [chloride transport]
GO:0006884 [cell volume homeostasis]
GO:0008511 [sodium:potassium:chloride symporter activity]
GO:0010107 [potassium ion import]
GO:0015081 [sodium ion transmembrane transporter activity]
GO:0015377 [cation:chloride symporter activity]
GO:0015378 [sodium:chloride symporter activity]
GO:0015379 [potassium:chloride symporter activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016324 [apical plasma membrane]
GO:0019899 [enzyme binding]
GO:0022820 [potassium ion symporter activity]
GO:0031982 [vesicle]
GO:0035725 [sodium ion transmembrane transport]
GO:0055064 [chloride ion homeostasis]
GO:0055075 [potassium ion homeostasis]
GO:0055078 [sodium ion homeostasis]
GO:0055085 [transmembrane transport]
GO:0070062 [extracellular exosome]
GO:1902476 [chloride transmembrane transport]
Show all
 1030 aa
113.9 kDa 		No >9
SLC12A3-002
ENSP00000457552
ENST00000566786
P55017 [Direct mapping]
Solute carrier family 12 member 3
Show all
Transporters
   Electrochemical Potential-driven transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005215 [transporter activity]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0006814 [sodium ion transport]
GO:0006884 [cell volume homeostasis]
GO:0008511 [sodium:potassium:chloride symporter activity]
GO:0010107 [potassium ion import]
GO:0015081 [sodium ion transmembrane transporter activity]
GO:0015377 [cation:chloride symporter activity]
GO:0015379 [potassium:chloride symporter activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016324 [apical plasma membrane]
GO:0022820 [potassium ion symporter activity]
GO:0035725 [sodium ion transmembrane transport]
GO:0055064 [chloride ion homeostasis]
GO:0055075 [potassium ion homeostasis]
GO:0055078 [sodium ion homeostasis]
GO:0055085 [transmembrane transport]
GO:0070062 [extracellular exosome]
GO:1902476 [chloride transmembrane transport]
Show all
 1029 aa
113.8 kDa 		No >9
SLC12A3-003
ENSP00000262502
ENST00000262502
J3QSS1 [Direct mapping]
Solute carrier family 12 member 3
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0015377 [cation:chloride symporter activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0055085 [transmembrane transport]
GO:1902476 [chloride transmembrane transport]
Show all
 1020 aa
113 kDa 		No >9
SLC12A3-005
ENSP00000456149
ENST00000563236
P55017 [Direct mapping]
Solute carrier family 12 member 3
Show all
Transporters
   Electrochemical Potential-driven transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005215 [transporter activity]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0006814 [sodium ion transport]
GO:0006884 [cell volume homeostasis]
GO:0008511 [sodium:potassium:chloride symporter activity]
GO:0010107 [potassium ion import]
GO:0015081 [sodium ion transmembrane transporter activity]
GO:0015377 [cation:chloride symporter activity]
GO:0015379 [potassium:chloride symporter activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016324 [apical plasma membrane]
GO:0022820 [potassium ion symporter activity]
GO:0035725 [sodium ion transmembrane transport]
GO:0055064 [chloride ion homeostasis]
GO:0055075 [potassium ion homeostasis]
GO:0055078 [sodium ion homeostasis]
GO:0055085 [transmembrane transport]
GO:0070062 [extracellular exosome]
GO:1902476 [chloride transmembrane transport]
Show all
 1021 aa
113.1 kDa 		No >9

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.