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GENE AND PROTEIN SUMMARY

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Gene name

SLC19A2

Description

solute carrier family 19 (thiamine transporter), member 2

Protein class

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

Protein evidence

Medium

Entrez gene summary

This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Cytoplasm

Additional location(s)

 

Staining summary

Granular staining of cytoplasm in all three cell lines.

Reliability (Single)

Antibodies in assay

HPA006119
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Ubiquitous cytoplasmic expression. The annotation is based on antibodies recognizing different splice variants.

Tissue specificity

Expressed in 70 out of 82 cell types

Reliability (APE)

Low

Antibodies in assay

HPA006119, HPA016599
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 14
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 59% of the cancers

Antibodies in assay

HPA006119, HPA016599
 

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

HPA006119

HPA016599

HPA006119

A-431 Skin Medium
Moderate
A-549 Lung Low
CACO-2 Colon Medium
HEK 293 Embryonal kidney Medium
HeLa Cervix Medium
Hep-G2 Liver Medium
MCF-7 Pleural effusion Low
PC-3 Bone marrow Medium
RT-4 Urinary bladder Medium
U-2 OS Bone Medium
Weak
U-251 MG Brain Medium
Moderate

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA006119 pAb
HPA016599 pAb