ATP8A2

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]

Description

ATPase phospholipid transporting 8A2

Tissue specificity

Group enriched (brain, pituitary gland, retina)

Subcell location

Nucleoplasm, Plasma membrane

Predicted location

Membrane

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

13 (25371974 - 26025851)

Ensembl ID

ENSG00000132932  (ver. 103.38)

Orthologs

Mouse Atp8a2: ENSMUSG00000021983

UniProt

Q9NTI2

neXtProt

NX_Q9NTI2

Human splice variants
Mouse splice variants

Protein structure