Sodium/potassium/calcium exchanger 5

SLC24A5
Identifiers
Aliases	SLC24A5, JSX, NCKX5, OCA6, SHEP4, solute carrier family 24 member 5
External IDs	OMIM: 609802; MGI: 2677271; HomoloGene: 18400; GeneCards: SLC24A5; OMA:SLC24A5 - orthologs
Gene location (Human)
Chr.	Chromosome 15 (human)
End	48,142,672 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	124,930,597 bp
RNA expression pattern
	Top expressed in
	testicle; ; skin of abdomen; ; thymus; ; skin of leg; ; substantia nigra; ; Cerebellum; ; cerebellar cortex; ; cerebellar hemisphere; ; right hemisphere of cerebellum; ; duodenum;
	Top expressed in
	blastocyst; ; ear; ; choroidal fissure; ; morula; ; inner ear; ; vasculature; ; vasculature of organ; ; neural layer of retina; ; embryo; ; choroid plexus of fourth ventricle;
	More reference expression data
	n/a
Gene ontology
Molecular function	calcium ion binding; calcium channel activity; potassium ion binding; sodium ion binding; antiporter activity; symporter activity; calcium, potassium:sodium antiporter activity;
Cellular component	integral component of membrane; Golgi apparatus; trans-Golgi network membrane; membrane; melanosome; integral component of plasma membrane; trans-Golgi network;
Biological process	response to stimulus; sodium ion transport; cellular calcium ion homeostasis; ion transport; negative regulation of melanin biosynthetic process; potassium ion transport; ion transmembrane transport; regulation of melanin biosynthetic process; calcium ion transport; calcium ion transmembrane transport; sodium ion transmembrane transport; transmembrane transport; melanocyte differentiation; potassium ion transmembrane transport; anion transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	283652
	317750
	ENSG00000188467
	ENSMUSG00000035183
	Q71RS6
	Q8C261
	NM_205850
	NM_175034
	NP_995322
	NP_778199
	Wikidata
View/Edit Human	View/Edit Mouse

Sodium/potassium/calcium exchanger 5 (NCKX5), also known as solute carrier family 24 member 5 (SLC24A5), is a protein that in humans is encoded by the SLC24A5 gene that has a major influence on natural skin colour variation. The NCKX5 protein is a member of the potassium-dependent sodium/calcium exchanger family. Sequence variation in the SLC24A5 gene, particularly a non-synonymous SNP changing the amino acid at position 111 in NCKX5 from alanine to threonine, has been associated with differences in skin pigmentation.

The SLC24A5 gene's derived threonine or Ala111Thr allele (rs1426654) has been shown to be a major factor in the light skin tone of Europeans compared to Sub-Saharan Africans, and is believed to represent as much as 25–40% of the average skin tone difference between Europeans and West Africans. Possibly originating as long as 19,000 years ago, it has been the subject of selection in the ancestors of Europeans as recently as within the last 5,000 years, and is fixed in modern European populations. It was introduced into Khoisan people via "back-to-Africa" migration around 2,000 years ago is partly responsible for their differing skin tone to most other African populations.