SLC24A2 (solute carrier family 24 member 2)

2014-11-01  

Identity

HGNC
LOCATION
9p22.1
LOCUSID
ALIAS
NCKX2
FUSION GENES

Other Information

Locus ID:

NCBI: 25769
MIM: 609838
HGNC: 10976
Ensembl: ENSG00000155886

Variants:

dbSNP: 25769
ClinVar: 25769
TCGA: ENSG00000155886
COSMIC: SLC24A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000155886ENST00000286344Q9UI40
ENSG00000155886ENST00000341998Q9UI40

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
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
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
181665282008SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis.42
125251832003Scanning mutagenesis of the alpha repeats and of the transmembrane acidic residues of the human retinal cone Na/Ca-K exchanger.15
156111322005Substitution of a single residue, Asp575, renders the NCKX2 K+-dependent Na+/Ca2+ exchanger independent of K+.11
155830082005Residues contributing to the Ca2+ and K+ binding pocket of the NCKX2 Na+/Ca2+-K+ exchanger.10
232248722013Functional and structural properties of the NCKX2 Na(+)-Ca (2+)/K (+) exchanger: a comparison with the NCX1 Na (+)/Ca (2+) exchanger.10
171642492007Na+-dependent inactivation of the retinal cone/brain Na+/Ca2+-K+ exchanger NCKX2.5
202312822010Residues contributing to the Na(+)-binding pocket of the SLC24 Na(+)/Ca(2+)-K(+) Exchanger NCKX2.4
170383132006Protein kinase C-dependent enhancement of activity of rat brain NCKX2 heterologously expressed in HEK293 cells.3
151960382004Role of cysteine residues in the NCKX2 Na+/Ca(2+)-K+ Exchanger: generation of a functional cysteine-free exchanger.2

Citation

Dessen P

SLC24A2 (solute carrier family 24 member 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73329/slc24a2