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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| solute carrier family 24 member 5 | MIM:609802 | Ensembl:ENSG00000188467 | HGNC:HGNC:20611 | PA134868972 | 15q21.1 |
GO terms in SLC24A5
| 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 |
| BP | IEA | GO:0048022 | negative regulation of melanin biosynthetic process |
| BP | IEA | GO:0050896 | response to stimulus |
| BP | IBA | GO:0070588 | calcium ion transmembrane transport |
| BP | IEA | GO:0070588 | calcium ion transmembrane transport |
| CC | IBA | GO:0005802 | trans-Golgi network |
| CC | IDA | GO:0005802 | trans-Golgi network |
| CC | IBA | GO:0005887 | integral component of plasma membrane |
| CC | TAS | GO:0032588 | trans-Golgi network membrane |
| CC | IEA | GO:0042470 | melanosome |
| MF | IBA | GO:0005262 | calcium channel activity |
| MF | IBA | GO:0008273 | calcium, potassium:sodium antiporter activity |
| MF | IDA | GO:0008273 | calcium, potassium:sodium antiporter activity |
| MF | TAS | GO:0008273 | calcium, potassium:sodium antiporter activity |
| MF | IEA | GO:0015293 | symporter activity |
Gene expression in normal tissue: SLC24A5
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SLC24A5
| 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) |
| reactome | R-HSA-5619102 | SLC transporter disorders |
| reactome | R-HSA-5619115 | Disorders of transmembrane transporters |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SLC24A5
CLASSFICATION
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