SLC22A5 (solute carrier family 22 member 5)

2011-07-01  

Identity

HGNC
LOCATION
5q31.1
LOCUSID
ALIAS
CDSP,OCTN2
FUSION GENES

Other Information

Locus ID:

NCBI: 6584
MIM: 603377
HGNC: 10969
Ensembl: ENSG00000197375

Variants:

dbSNP: 6584
ClinVar: 6584
TCGA: ENSG00000197375
COSMIC: SLC22A5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197375ENST00000245407O76082
ENSG00000197375ENST00000415928H7BZC0
ENSG00000197375ENST00000435065O76082
ENSG00000197375ENST00000437841F8WCC9
ENSG00000197375ENST00000447841H7BZF0
ENSG00000197375ENST00000448810H7C1R8

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Choline metabolism in cancerKEGGhsa05231
Choline metabolism in cancerKEGGko05231
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
Organic cation/anion/zwitterion transportREACTOMER-HSA-549132
Organic cation transportREACTOMER-HSA-549127

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10804imatinibChemicalClinicalAnnotation, VariantAnnotationassociatedPD23127916, 28762371
PA151958383Gastrointestinal Stromal TumorsDiseaseClinicalAnnotation, VariantAnnotationassociatedPD23127916, 28762371
PA166176782periorbital edemaDiseaseVariantAnnotationassociatedPD28762371

References

Pubmed IDYearTitleCitations
151078492004Functional variants of OCTN cation transporter genes are associated with Crohn disease.153
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
180057092007The Bacillus subtilis quorum-sensing molecule CSF contributes to intestinal homeostasis via OCTN2, a host cell membrane transporter.72
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
268287742016Carnitine transport and fatty acid oxidation.59
206016762010Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease.50
177861912007rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants.44
177861912007rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants.44
195788762009The ERAP2 gene is associated with preeclampsia in Australian and Norwegian populations.39
200315772009Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study.34

Citation

Dessen P

SLC22A5 (solute carrier family 22 member 5)

Atlas Genet Cytogenet Oncol Haematol. 2011-07-01

Online version: http://atlasgeneticsoncology.org/gene/52518/slc22a5