ATP13A4 (ATPase 13A4)

2014-11-01  

Identity

HGNC
LOCATION
3q29
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 84239
MIM: 609556
HGNC: 25422
Ensembl: ENSG00000127249

Variants:

dbSNP: 84239
ClinVar: 84239
TCGA: ENSG00000127249
COSMIC: ATP13A4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000127249ENST00000295548Q4VNC1
ENSG00000127249ENST00000342695Q4VNC1
ENSG00000127249ENST00000392443B7WPN9
ENSG00000127249ENST00000400270Q4VNC1
ENSG00000127249ENST00000428352H0Y4Z2
ENSG00000127249ENST00000437904H7C1P5
ENSG00000127249ENST00000450950F8W9W3

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ion transport by P-type ATPasesREACTOMER-HSA-936837

References

Pubmed IDYearTitleCitations
159254802005Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay.16

Citation

Dessen P

ATP13A4 (ATPase 13A4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60612/atp13a4-(atpase-13a4)