SLC24A5
Summary: This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:609802 Ensembl IDEnsembl:ENSG00000188467 HGNC IDHGNC:HGNC:20611 PHARMGKB IDPA134868972 Map Location15q21.1 | |||||
GO terms in SLC24A5
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0006811 | ion transport |
| BP | IEA | GO:0006813 | potassium ion transport |
| BP | IBA | GO:0006874 | cellular calcium ion homeostasis |
| BP | IBA | GO:0030318 | melanocyte differentiation |
| BP | IDA | GO:0034220 | ion transmembrane transport |
| BP | IEA | GO:0035725 | sodium ion transmembrane transport |
Gene expression in normal tissue: SLC24A5
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SLC24A5
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-425393 | Transport of inorganic cations/anions and amino acids/oligopeptides |
| reactome | R-HSA-425407 | SLC-mediated transmembrane transport |
| reactome | R-HSA-425561 | Sodium/Calcium exchangers |
| reactome | R-HSA-5619036 | Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SLC24A5
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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