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GENE AND PROTEIN SUMMARY

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Gene name

SLC12A3

Description

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

Protein class

Mapped to UniProt SWISS-PROT, Plasma proteins, Potential transmembrane proteins, Transporters

Protein evidence

Medium

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

4 in total
4 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleus but not nucleoli, Cytoplasm

Additional location(s)

Cell Junctions 

Staining summary

Staining of nucleus, cytoplasm and centrosome in all three cell lines. Additional staining of cell junctions in A-431.

Reliability (Single)

Antibodies in assay

HPA028748
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Membranous and cytoplasmic expression in a subset of tissues including the gastrointestinal tract and kidney.

Tissue specificity

Expressed in 25 out of 79 cell types

Reliability (APE)

Low

Antibodies in assay

CAB022505, HPA028748
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 12
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 12
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 39% of the cancers

Antibodies in assay

CAB022505, HPA028748
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

Medium
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

CAB022505

HPA028748

HPA028748

A-431 Skin Low
Weak
A-549 Lung Not detected
CACO-2 Colon Not detected
HEK 293 Embryonal kidney Not detected
HeLa Cervix Medium
Hep-G2 Liver Low
MCF-7 Pleural effusion Not detected
PC-3 Bone marrow Not detected
RT-4 Urinary bladder Not detected
U-2 OS Bone Not detected
Weak
U-251 MG Brain Not detected
Weak

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

CAB022505 msAb
HPA028748 pAb