SLC6A8
Summary: The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:300036 Ensembl IDEnsembl:ENSG00000130821 HGNC IDHGNC:HGNC:11055 PHARMGKB IDPA35915 Map LocationXq28 | |||||
GO terms in SLC6A8
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | ND | GO:0003674 | molecular_function |
| MF | IBA | GO:0005215 | transporter activity |
| MF | NAS | GO:0005308 | creatine transmembrane transporter activity |
| MF | IBA | GO:0005309 | creatine:sodium symporter activity |
| MF | TAS | GO:0005309 | creatine:sodium symporter activity |
| MF | IEA | GO:0005328 | neurotransmitter:sodium symporter activity |
Gene expression in normal tissue: SLC6A8
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SLC6A8
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-351202 | Metabolism of polyamines |
| reactome | R-HSA-71288 | Creatine metabolism |
| reactome | R-HSA-71291 | Metabolism of amino acids and derivatives |
| wikipathways | WP2882 | Nuclear Receptors Meta-Pathway |
| wikipathways | WP2884 | NRF2 pathway |
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Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SLC6A8
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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