ATP8A2 (ATPase phospholipid transporting 8A2)

2003-05-01  

Identity

HGNC
LOCATION
13q12.13
LOCUSID
ALIAS
ATP,ATPIB,CAMRQ4,IB,ML-1
FUSION GENES

Other Information

Locus ID:

NCBI: 51761
MIM: 605870
HGNC: 13533
Ensembl: ENSG00000132932

Variants:

dbSNP: 51761
ClinVar: 51761
TCGA: ENSG00000132932
COSMIC: ATP8A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132932ENST00000255283F8VRS1
ENSG00000132932ENST00000281620F8W9B3
ENSG00000132932ENST00000381655Q9NTI2

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

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
197788992009Localization, purification, and functional reconstitution of the P4-ATPase Atp8a2, a phosphatidylserine flippase in photoreceptor disc membranes.80
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
214545562011Critical role of the beta-subunit CDC50A in the stable expression, assembly, subcellular localization, and lipid transport activity of the P4-ATPase ATP8A2.48
228925282013Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.44
276799952016New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.9
313715102019Phosphatidylserine flipping by the P4-ATPase ATP8A2 is electrogenic.1
313975192019Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders.0

Citation

Dessen P

ATP8A2 (ATPase phospholipid transporting 8A2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/727/atp8a2