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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
solute carrier family 24 member 5MIM:609802Ensembl:ENSG00000188467HGNC:HGNC:20611PA13486897215q21.1

GO terms in SLC24A5


Term TypeEvidence TypeGO Term IDGO Des.
BPTASGO:0006811ion transport
BPIEAGO:0006813potassium ion transport
BPIBAGO:0006874cellular calcium ion homeostasis
BPIBAGO:0030318melanocyte differentiation
BPIDAGO:0034220ion transmembrane transport
BPIEAGO:0035725sodium ion transmembrane transport
BPIEAGO:0048022negative regulation of melanin biosynthetic process
BPIEAGO:0050896response to stimulus
BPIBAGO:0070588calcium ion transmembrane transport
BPIEAGO:0070588calcium ion transmembrane transport
CCIBAGO:0005802trans-Golgi network
CCIDAGO:0005802trans-Golgi network
CCIBAGO:0005887integral component of plasma membrane
CCTASGO:0032588trans-Golgi network membrane
CCIEAGO:0042470melanosome
MFIBAGO:0005262calcium channel activity
MFIBAGO:0008273calcium, potassium:sodium antiporter activity
MFIDAGO:0008273calcium, potassium:sodium antiporter activity
MFTASGO:0008273calcium, potassium:sodium antiporter activity
MFIEAGO:0015293symporter activity

Gene expression in normal tissue: SLC24A5

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in SLC24A5


DatabasePathway IDPathway Des.
reactomeR-HSA-1643685Disease
reactomeR-HSA-382551Transport of small molecules
reactomeR-HSA-425393Transport of inorganic cations/anions and amino acids/oligopeptides
reactomeR-HSA-425407SLC-mediated transmembrane transport
reactomeR-HSA-425561Sodium/Calcium exchangers
reactomeR-HSA-5619036Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)
reactomeR-HSA-5619102SLC transporter disorders
reactomeR-HSA-5619115Disorders of transmembrane transporters

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD353PD03259011

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SLC24A5

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