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
179520752007Genetic determinants of hair, eye and skin pigmentation in Europeans.224
196093472009A genome-wide association study of hypertension and blood pressure in African Americans.185
184835562008A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.168
184835562008A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.168
205856272010Web-based, participant-driven studies yield novel genetic associations for common traits.155
253657752015Association of Brain DNA methylation in SORL1, ABCA7, HLA-DRB5, SLC24A4, and BIN1 with pathological diagnosis of Alzheimer disease.81
197106842010Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.66
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
233756552013Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.46
246216712014STIM1 and SLC24A4 Are Critical for Enamel Maturation.35

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