Identity
HGNC
LOCATION
13q12.13
LOCUSID
ALIAS
ATP,ATPIB,CAMRQ4,IB,ML-1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 51761
MIM: 605870
HGNC: 13533
Ensembl: ENSG00000132932
Variants:
dbSNP: 51761
ClinVar: 51761
TCGA: ENSG00000132932
COSMIC: ATP8A2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000132932 | ENST00000255283 | F8VRS1 |
| ENSG00000132932 | ENST00000281620 | F8W9B3 |
| ENSG00000132932 | ENST00000381655 | Q9NTI2 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Transmembrane transport of small molecules | REACTOME | R-HSA-382551 |
| Ion channel transport | REACTOME | R-HSA-983712 |
| Ion transport by P-type ATPases | REACTOME | R-HSA-936837 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37678495 | 2024 | On the track of the lipid transport pathway of the phospholipid flippase ATP8A2 - Mutation analysis of residues of the transmembrane segments M1, M2, M3 and M4. | 3 |
| 38436085 | 2024 | Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases. | 3 |
| 37678495 | 2024 | On the track of the lipid transport pathway of the phospholipid flippase ATP8A2 - Mutation analysis of residues of the transmembrane segments M1, M2, M3 and M4. | 3 |
| 38436085 | 2024 | Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases. | 3 |
| 35321980 | 2022 | Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2. | 3 |
| 35321980 | 2022 | Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2. | 3 |
| 33565221 | 2021 | Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum. | 3 |
| 33682124 | 2021 | Congenital ataxia due to novel variant in ATP8A2. | 2 |
| 33565221 | 2021 | Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum. | 3 |
| 33682124 | 2021 | Congenital ataxia due to novel variant in ATP8A2. | 2 |
| 31612321 | 2020 | ATP8A2-related disorders as recessive cerebellar ataxia. | 7 |
| 31612321 | 2020 | ATP8A2-related disorders as recessive cerebellar ataxia. | 7 |
| 31371510 | 2019 | Phosphatidylserine flipping by the P4-ATPase ATP8A2 is electrogenic. | 11 |
| 31397519 | 2019 | Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders. | 7 |
| 31371510 | 2019 | Phosphatidylserine flipping by the P4-ATPase ATP8A2 is electrogenic. | 11 |
Citation
Dessen P
ATP8A2 (ATPase phospholipid transporting 8A2)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/727/atp8a2-(atpase-phospholipid-transporting-8a2)
