SLC19A2

GENERAL INFORMATION

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Gene name

SLC19A2

Gene description

Solute carrier family 19 (thiamine transporter), member 2

Protein class

Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

Membrane

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

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

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 2 antibodies.
HPA006119 , HPA016599
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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:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

SLC19A2 (HGNC Symbol)

Synonyms

THTR1, TRMA

Description

Solute carrier family 19 (thiamine transporter), member 2 (HGNC Symbol)

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]

Chromosome

1

Cytoband

q24.2

Chromosome location (bp)

169463909 - 169486003

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000117479 (version 78.38)

Entrez gene

10560

UniProt

O60779 (UniProt - Evidence at protein level)

neXtProt

NX_O60779

Antibodypedia

SLC19A2 antibodies


PROTEIN BROWSER

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ENST00000236137
 
ENST00000367804
 
 
 
 


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)

SLC19A2-001 ENSP00000236137
ENST00000236137
O60779
Show all »
Show » Show » 497 55.4 No >9
SLC19A2-002 ENSP00000356778
ENST00000367804
O60779
Show all »
Show » Show » 296 32.9 No 6