SLC2A9 (solute carrier family 2 member 9)

2015-06-01  

Identity

HGNC
SLC2A9
LOCATION
4p16.1
LOCUSID
56606
ALIAS
GLUT9,GLUTX,UAQTL2,URATv1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 56606
MIM: 606142
HGNC: 13446
Ensembl: ENSG00000109667

Variants:

dbSNP: 56606
ClinVar: 56606
TCGA: ENSG00000109667
COSMIC: SLC2A9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000109667ENST00000264784Q9NRM0
ENSG00000109667ENST00000309065Q9NRM0
ENSG00000109667ENST00000506583Q9NRM0
ENSG00000109667ENST00000513129D6REK5

Expression (GTEx)

0
1
2
3
4
5
6
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 glucose and other sugars, bile salts and organic acids, metal ions and amine compoundsREACTOMER-HSA-425366
Facilitative Na+-independent glucose transportersREACTOMER-HSA-428790
Class II GLUTsREACTOMER-HSA-428776

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
381508922024Raised CK and acute kidney injury following intense exercise in three patients with a history of exercise intolerance due to homozygous mutations in SLC2A9.0
381508922024Raised CK and acute kidney injury following intense exercise in three patients with a history of exercise intolerance due to homozygous mutations in SLC2A9.0
367368752023The in-silico evaluation of important GLUT9 residue for uric acid transport based on renal hypouricemia type 2.0
371761612023Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M).2
373085672023GLUT9 as a potential drug target for chronic kidney disease: Drug target validation by a Mendelian randomization study.0
367368752023The in-silico evaluation of important GLUT9 residue for uric acid transport based on renal hypouricemia type 2.0
371761612023Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M).2
373085672023GLUT9 as a potential drug target for chronic kidney disease: Drug target validation by a Mendelian randomization study.0
352032842022Glucose Transporter 9 (GLUT9) Plays an Important Role in the Placental Uric Acid Transport System.4
360065482022The regulation effect of GLUT9/SLC2A9 on intrahepatic uric acid level and metabolic associated fatty liver disease.3
352032842022Glucose Transporter 9 (GLUT9) Plays an Important Role in the Placental Uric Acid Transport System.4
360065482022The regulation effect of GLUT9/SLC2A9 on intrahepatic uric acid level and metabolic associated fatty liver disease.3
327787632021Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects.6
328069752021The haplotype of SLC2A9_rs3733591, PKD2_rs2725220 and ABCG2_rs2231142 increases the hyperuricaemia risk and alcohol, chicken and processed meat intakes and smoking interact with its risk.7
347168632021The effects of hyperuricemia on endothelial cells are mediated via GLUT9 and the JAK2/STAT3 pathway.4

Citation

Dessen P

SLC2A9 (solute carrier family 2 member 9)

Atlas Genet Cytogenet Oncol Haematol. 2015-06-01

Online version: http://atlasgeneticsoncology.org/gene/55281/img/js/lib/all.min.js