Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6584
MIM: 603377
HGNC: 10969
Ensembl: ENSG00000197375
Variants:
dbSNP: 6584
ClinVar: 6584
TCGA: ENSG00000197375
COSMIC: SLC22A5
RNA/Proteins
Expression (GTEx)
Pathways
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA10804 | imatinib | Chemical | ClinicalAnnotation, VariantAnnotation | associated | PD | 23127916, 28762371 | |
| PA151958383 | Gastrointestinal Stromal Tumors | Disease | ClinicalAnnotation, VariantAnnotation | associated | PD | 23127916, 28762371 | |
| PA166176782 | periorbital edema | Disease | VariantAnnotation | associated | PD | 28762371 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36539562 | 2023 | Evaluation of the gene encoding carnitine transporter (OCTN2/SLC22A5) expression in human breast cancer and its association with clinicopathological characteristics. | 0 |
| 37187422 | 2023 | The activity and surface presence of organic cation/carnitine transporter OCTN2 (SLC22A5) in breast cancer cells depends on AKT kinase. | 0 |
| 36539562 | 2023 | Evaluation of the gene encoding carnitine transporter (OCTN2/SLC22A5) expression in human breast cancer and its association with clinicopathological characteristics. | 0 |
| 37187422 | 2023 | The activity and surface presence of organic cation/carnitine transporter OCTN2 (SLC22A5) in breast cancer cells depends on AKT kinase. | 0 |
| 36343260 | 2022 | Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency. | 8 |
| 36343260 | 2022 | Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency. | 8 |
| 32654140 | 2021 | Glioma cells survival depends both on fatty acid oxidation and on functional carnitine transport by SLC22A5. | 21 |
| 32964310 | 2021 | Tooth loss and adiposity: possible role of carnitine transporter (OCTN1/2) polymorphisms in women but not in men. | 1 |
| 33334877 | 2021 | Cholesterol stimulates the cellular uptake of L-carnitine by the carnitine/organic cation transporter novel 2 (OCTN2). | 5 |
| 34704412 | 2021 | Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province. | 4 |
| 34729741 | 2021 | [Analysis of metabolic profile and genetic variants for newborns with primary carnitine deficiency from Guangxi]. | 2 |
| 32654140 | 2021 | Glioma cells survival depends both on fatty acid oxidation and on functional carnitine transport by SLC22A5. | 21 |
| 32964310 | 2021 | Tooth loss and adiposity: possible role of carnitine transporter (OCTN1/2) polymorphisms in women but not in men. | 1 |
| 33334877 | 2021 | Cholesterol stimulates the cellular uptake of L-carnitine by the carnitine/organic cation transporter novel 2 (OCTN2). | 5 |
| 34704412 | 2021 | Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province. | 4 |
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
