SLC24A4

Protein name: NCKX4 Aliases: SHEP6, FLJ38852 Substrates: Na+, Ca2+, K+ Transport type: Exchanger / 4 Na+, Ca2+, K+ Tissue and cellular expression: brain, olfactory neurons, aorta, lung, thymus Subcellular expression: plasma membrane Disease: N/D Locus: 14q32.12 Sequence ID: NP_705932.2, NM_153646.3 NP_705933.2, NM_153647.3 NP_705934.1, NM_153648.3 Gene ID: 123041 Splice variants: N/D

NCKX4_HUMAN (UniProt)

Gene names: SLC24A4, NCKX4
Protein names and data: NCKX4_HUMAN, Full=Sodium/potassium/calcium exchanger 4, Full=Na(+)/K(+)/Ca(2+)-exchange protein 4;Full=Solute carrier family 24 member 4;Flags: Precursor; Length: 622 a.a., Mass: 69042 Da,
fasta formatted sequence

Function: Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+)
Cellular location: Membrane; Multi-pass membrane protein
Tissue specificity: Expressed abundantly in all regions of the brain, aorta, lung and thymus. Expressed at lower levels in the stomach and intestine

Database cross-references

UniProt: Q8NFF2
NextBio: 81061
OMIM: 210750 609840
Ensembl: ENST00000532405
GeneCard: GC14P092322
TCDB: 2.A.19.4.5
PharmGenUCSF: SLC24A4
Guide to Pharmacology: SLC24A4 (1048)
SLC24 family of sodium/potassium/calcium exchangers (1048)

HGNC: HGNC:10978

Genetic variants

Genetic variants in SLC24A4 define the skin/hair/eye pigmentation variation locus 6 (SHEP6) [MIM:210750]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. See also Ensembl:ENST00000532405