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