SLC19A3

GENERAL INFORMATION

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Gene name

SLC19A3

Gene description

Solute carrier family 19 (thiamine transporter), member 3

Protein class

Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

Membrane

Number of transcripts

5
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (adipose tissue, placenta)
GTEx:Group enriched (adipose tissue, breast)

Protein evidence

Evidence at protein level

Protein localization

Membranous expression most abundant in placenta, kidney and ciliated cells.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly not consistent with RNA expression data. Pending external verification.

Data reliability

Uncertain based on 1 antibody.
HPA038898
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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

Placenta



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (adipose tissue, placenta)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (adipose tissue, breast)

Organ

Expression



GENE INFORMATION

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Gene name

SLC19A3 (HGNC Symbol)

Synonyms

THTR2

Description

Solute carrier family 19 (thiamine transporter), member 3 (HGNC Symbol)

Entrez gene summary

This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild mental retardation, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]

Chromosome

2

Cytoband

q36.3

Chromosome location (bp)

227685210 - 227718012

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000135917 (version 78.38)

Entrez gene

80704

UniProt

Q9BZV2 (UniProt - Evidence at protein level)

neXtProt

NX_Q9BZV2

Antibodypedia

SLC19A3 antibodies


PROTEIN BROWSER

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ENST00000258403
 
ENST00000409287
 
ENST00000409456
 
ENST00000419059
 
ENST00000456524
 
 
 
 


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)

SLC19A3-001 ENSP00000258403
ENST00000258403
Q9BZV2
Show all »
Show » Show » 496 55.7 No >9
SLC19A3-004 ENSP00000387193
ENST00000409456
B8ZZ39
Show all »
Show » Show » 54 6.2 No 1
SLC19A3-006 ENSP00000399001
ENST00000456524
C9IZI1
Show all »
Show » Show » 132 15.2 No 4
SLC19A3-007 ENSP00000398349
ENST00000419059
C9J4J5
Show all »
Show » Show » 64 7.4 No 1
SLC19A3-008 ENSP00000386298
ENST00000409287
B8ZZW1
Show all »
Show » Show » 92 10.7 No 2