SLC28A2 (solute carrier family 28 member 2)

2014-11-01  

Identity

HGNC
SLC28A2
LOCATION
15q21.1
LOCUSID
9153
ALIAS
CNT2,HCNT2,HsT17153,SPNT1

Other Information

Locus ID:

NCBI: 9153
MIM: 606208
HGNC: 11002
Ensembl: ENSG00000137860

Variants:

dbSNP: 9153
ClinVar: 9153
TCGA: ENSG00000137860
COSMIC: SLC28A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137860ENST00000347644O43868
ENSG00000137860ENST00000559924H0YNK4
ENSG00000137860ENST00000560438H0YNM6

Expression (GTEx)

0
1
2
3
4
5
6
7
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
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of vitamins, nucleosides, and related moleculesREACTOMER-HSA-425397
Transport of nucleosides and free purine and pyrimidine bases across the plasma membraneREACTOMER-HSA-83936

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA162263533nephrotoxicityDiseaseClinicalAnnotationassociatedPD31619748
PA164784024peginterferon alfa-2bChemicalClinicalAnnotationassociatedPD26071337
PA165948902boceprevirChemicalMultilinkAnnotationassociated25836019
PA166201941tenofovir disoproxil fumarateChemicalClinicalAnnotationassociatedPD31619748
PA443622Carcinoma, Non-Small-Cell LungDiseaseClinicalAnnotationassociatedPD18538445
PA444445Hepatitis CDiseaseClinicalAnnotationassociatedPD26071337
PA445062NeoplasmsDiseaseClinicalAnnotationassociatedPD18538445, 20665488
PA447230HIV InfectionsDiseaseClinicalAnnotationassociatedPD31619748
PA449748gemcitabineChemicalClinicalAnnotationassociatedPD18538445, 20665488
PA451159protease inhibitorsChemicalClinicalAnnotationassociatedPD26071337
PA451241ribavirinChemicalClinicalAnnotationassociatedPD26071337

References

Pubmed IDYearTitleCitations
339101262021Characterization of deoxyribonucleoside transport mediated by concentrative nucleoside transporters.5
339101262021Characterization of deoxyribonucleoside transport mediated by concentrative nucleoside transporters.5
306799352019Common variants in the SLC28A2 gene are associated with serum uric acid level and hyperuricemia and gout in Han Chinese.4
306799352019Common variants in the SLC28A2 gene are associated with serum uric acid level and hyperuricemia and gout in Han Chinese.4
283858892017Substituted cysteine accessibility method (SCAM) analysis of the transport domain of human concentrative nucleoside transporter 3 (hCNT3) and other family members reveals features of structural and functional importance.7
283858892017Substituted cysteine accessibility method (SCAM) analysis of the transport domain of human concentrative nucleoside transporter 3 (hCNT3) and other family members reveals features of structural and functional importance.7
231956172013Impact of genetic SLC28 transporter and ITPA variants on ribavirin serum level, hemoglobin drop and therapeutic response in patients with HCV infection.14
231956172013Impact of genetic SLC28 transporter and ITPA variants on ribavirin serum level, hemoglobin drop and therapeutic response in patients with HCV infection.14
231494442012Negative predictive value of IL28B, SLC28A2, and CYP27B1 SNPs and low RBV plasma exposure for therapeutic response to PEG/IFN-RBV treatment.2
231494442012Negative predictive value of IL28B, SLC28A2, and CYP27B1 SNPs and low RBV plasma exposure for therapeutic response to PEG/IFN-RBV treatment.2
200287592010Single nucleotide polymorphisms of gemcitabine metabolic genes and pancreatic cancer survival and drug toxicity.37
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203925012010Contribution of adenosine related genes to the risk of depression with disturbed sleep.23
205063272010Link between high-affinity adenosine concentrative nucleoside transporter-2 (CNT2) and energy metabolism in intestinal and liver parenchymal cells.8
200287592010Single nucleotide polymorphisms of gemcitabine metabolic genes and pancreatic cancer survival and drug toxicity.37

Citation

Dessen P

SLC28A2 (solute carrier family 28 member 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73381/favicon/js/template.js