ATP8B2 (ATPase phospholipid transporting 8B2)

2014-06-01  

Identity

HGNC
LOCATION
1q21.3
LOCUSID
ALIAS
ATPID
FUSION GENES

Other Information

Locus ID:

NCBI: 57198
MIM: 605867
HGNC: 13534
Ensembl: ENSG00000143515

Variants:

dbSNP: 57198
ClinVar: 57198
TCGA: ENSG00000143515
COSMIC: ATP8B2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143515ENST00000368487P98198
ENSG00000143515ENST00000368489P98198

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
262401492015Characterization of P4 ATPase Phospholipid Translocases (Flippases) in Human and Rat Pancreatic Beta Cells: THEIR GENE SILENCING INHIBITS INSULIN SECRETION.6

Citation

Dessen P

ATP8B2 (ATPase phospholipid transporting 8B2)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/53946/atp8b2