SLC19A2 (solute carrier family 19 member 2)

2014-03-01  

Identity

HGNC
SLC19A2
LOCATION
1q24.2
LOCUSID
10560
ALIAS
TC1,THMD1,THT1,THTR1,TRMA
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10560
MIM: 603941
HGNC: 10938
Ensembl: ENSG00000117479

Variants:

dbSNP: 10560
ClinVar: 10560
TCGA: ENSG00000117479
COSMIC: SLC19A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117479ENST00000236137O60779
ENSG00000117479ENST00000236137A0A024R928
ENSG00000117479ENST00000367804O60779
ENSG00000117479ENST00000367804A0A024R8Y5
ENSG00000117479ENST00000646596A0A2R8Y5B5

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Vitamin digestion and absorptionKEGGko04977
Vitamin digestion and absorptionKEGGhsa04977
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Vitamin B1 (thiamin) metabolismREACTOMER-HSA-196819

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
197313222010Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.41
146152842004Expression and functional contribution of hTHTR-2 in thiamin absorption in human intestine.31
195361752009Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.30
124540062003Cell biology of the human thiamine transporter-1 (hTHTR1). Intracellular trafficking and membrane targeting mechanisms.19
167051482006Thiamin uptake by the human-derived renal epithelial (HEK-293) cells: cellular and molecular mechanisms.17
163713502006Targeting and trafficking of the human thiamine transporter-2 in epithelial cells.16
190646102009Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation.16
129003882003In vitro and in vivo characterization of the minimal promoter region of the human thiamin transporter SLC19A2.15
194237482009Pancreatic beta cells and islets take up thiamin by a regulated carrier-mediated process: studies using mice and human pancreatic preparations.15

Citation

Dessen P

SLC19A2 (solute carrier family 19 member 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-03-01

Online version: http://atlasgeneticsoncology.org/gene/53830/slc19a2