SLC19A2

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 (Chromosome progress)

Cytoband

q24.2

Chromosome location (bp)

169433147 - 169455241

Ensembl

ENSG00000117479 (version 73.37)

Entrez gene

10560

UniProt

O60779 (UniProt - Evidence at protein level)

neXtProt

NX_O60779

Antibodypedia

SLC19A2 antibodies
 

PROTEIN VIEW

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SLC19A2-001
 
SLC19A2-002
 
SLC19A2-003
 
 
 
 
 

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
SLC19A2-003 ENSP00000356776
ENST00000367802
Q5TIE1
Show all »
Show » Show » 459 51.3 No >9