NIPA2 (NIPA magnesium transporter 2)

2007-02-01  

Identity

HGNC
LOCATION
15q11.2
LOCUSID
ALIAS
SLC57A2

Other Information

Locus ID:

NCBI: 81614
MIM: 608146
HGNC: 17044
Ensembl: ENSG00000140157

Variants:

dbSNP: 81614
ClinVar: 81614
TCGA: ENSG00000140157
COSMIC: NIPA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140157ENST00000337451Q8N8Q9
ENSG00000140157ENST00000337451A0A024R372
ENSG00000140157ENST00000359727Q8N8Q9
ENSG00000140157ENST00000398013Q8N8Q9
ENSG00000140157ENST00000398013A0A024R372
ENSG00000140157ENST00000398014Q8N8Q9
ENSG00000140157ENST00000539711Q8N8Q9
ENSG00000140157ENST00000560039H0YMQ7
ENSG00000140157ENST00000674173A0A024R372
ENSG00000140157ENST00000674289A0A024R372
ENSG00000140157ENST00000674330A0A024R372
ENSG00000140157ENST00000674477A0A024R372

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Miscellaneous transport and binding eventsREACTOMER-HSA-5223345

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
150673242004Gene expression profiling predicts clinical outcome of prostate cancer.171
145087082003Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons.62
169828062006Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome.44
223674392012NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy.11
253470712014Functional study of NIPA2 mutations identified from the patients with childhood absence epilepsy.9

Citation

Dessen P

NIPA2 (NIPA magnesium transporter 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46305/nipa2