SLC12A3

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Tissue enriched (kidney)
GTEx:Tissue enriched (kidney)

Protein evidence

Evidence at protein level

Protein localization

Selective expression in a subset of renal tubules.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining consistent with RNA expression data.

Data reliability

Supportive based on 1 antibody.
HPA028748
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (kidney)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enriched (kidney)

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

6559

UniProt

P55017 (UniProt - Evidence at protein level)

neXtProt

NX_P55017

Antibodypedia

SLC12A3 antibodies


PROTEIN BROWSER

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ENST00000262502
 
ENST00000438926
 
ENST00000563236
 
ENST00000566786
 
 
 
 


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