- Gene Overview
- Interaction Network
- Sequence Verification
ATP8A2, ATPase phospholipid transporting 8A2
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The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with a syndrome (CAMRQ4) characterized by cerebellar ataxia and cognitive disabilities. In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]
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Gene Synonyms (phospholipid-transporting ATPase IB, ATPase, aminophospholipid transporter, class I, type 8A, member 2, ATPase, aminophospholipid transporter-like, class I, type 8A, member 2, P4-ATPase flippase complex alpha subunit ATP8A2, probable phospholipid-transporting ATPase IB, ATP, ATPIB, CAMRQ4, IB, ML-1,)
- NCBI Gene ID:
51761
- Species:
Homo sapiens (Human)
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UNIPROT ID#>>Q6ZSP3
UNIPROT ID#>>Q6ZU25
UNIPROT ID#>>B7Z880
UNIPROT ID#>>Q9NTI2
- View the NCBI Database
for this Gene »
Gene products are often involved in multiple pathways and networks within a living
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ATPase phospholipid transporting 8A2 interacts with:
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