QuickView for Drs2;jsessionid=54678219EDEAE0BF309D46CE8BD870CE;jsessionid=577A4C46AB871E805A28EF90DF1A25DC (gene)

Gene Symbol:

ATP8A2 Homo sapiens

Full name:

ATPase phospholipid transporting 8A2

Synonyms:

ATP, ATPIB, CAMRQ4, IB, ML-1, 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

Genomic Location:

Chr 13: 24844209-25493420

Description:

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 p...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Gallus gallus ,  Pan troglodytes ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GTTTGTT_MIR495 ,  TTCYNRGAA_STAT5B_01 ,  STAT5A_01 ,  P300_01 ,  AACTTT_UNKNOWN

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-150 ,  Predicted Gene Targets for miR-377 ,  Predicted Gene Targets for miR-203 ,  Predicted Gene Targets for miR-495

Cytogenetic Map:

13q12.13

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