SLC24A4 (solute carrier family 24 member 4)

2014-11-01  

Identity

HGNC
LOCATION
14q32.12
LOCUSID
ALIAS
AI2A5,NCKX4,SHEP6,SLC24A2

Other Information

Locus ID:

NCBI: 123041
MIM: 609840
HGNC: 10978
Ensembl: ENSG00000140090

Variants:

dbSNP: 123041
ClinVar: 123041
TCGA: ENSG00000140090
COSMIC: SLC24A4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140090ENST00000393265Q8NFF2
ENSG00000140090ENST00000525557H0YCX3
ENSG00000140090ENST00000531433Q8NFF2
ENSG00000140090ENST00000532405Q8NFF2
ENSG00000140090ENST00000554461G3V505

Expression (GTEx)

0
1
2
3
4
5
6
7
8

Pathways

PathwaySourceExternal ID
Olfactory transductionKEGGko04740
Olfactory transductionKEGGhsa04740
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Sodium/Calcium exchangersREACTOMER-HSA-425561

References

Pubmed IDYearTitleCitations
331993722021Calmodulin binds and modulates K(+)-dependent Na(+)/Ca(2+)-exchanger isoform 4, NCKX4.4
331993722021Calmodulin binds and modulates K(+)-dependent Na(+)/Ca(2+)-exchanger isoform 4, NCKX4.4
323809702020A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family.7
329159102020Association between brown eye colour in rs12913832:GG individuals and SNPs in TYR, TYRP1, and SLC24A4.10
323809702020A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family.7
329159102020Association between brown eye colour in rs12913832:GG individuals and SNPs in TYR, TYRP1, and SLC24A4.10
270934572016Identification and Characterization of K(+)-Dependent Na(+)-Ca(2+) Exchange Transport in Pigmented MEB4 Cells Mediated by NCKX4.3
271292682016A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.11
272153322016Lack of Association Between SLC24A4 Polymorphism and Late-onset Alzheimer's Disease in Han Chinese.5
270934572016Identification and Characterization of K(+)-Dependent Na(+)-Ca(2+) Exchange Transport in Pigmented MEB4 Cells Mediated by NCKX4.3
271292682016A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.11
272153322016Lack of Association Between SLC24A4 Polymorphism and Late-onset Alzheimer's Disease in Han Chinese.5
253657752015Association of Brain DNA methylation in SORL1, ABCA7, HLA-DRB5, SLC24A4, and BIN1 with pathological diagnosis of Alzheimer disease.145
255006932015Elevated NCX1 and NCKX4 expression in the patent postnatal ductus arteriosus of ductal-dependent congenital heart disease patients.2
253657752015Association of Brain DNA methylation in SORL1, ABCA7, HLA-DRB5, SLC24A4, and BIN1 with pathological diagnosis of Alzheimer disease.145

Citation

Dessen P

SLC24A4 (solute carrier family 24 member 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73331/slc24a4-(solute-carrier-family-24-member-4)