Gene: ATP8A2
Alternate names for this Gene: ATP|ATPIB|CAMRQ4|IB|ML-1
Gene Summary: 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.
Gene is located in Chromosome: 13
Location in Chromosome : 13q12.13
Description of this Gene: ATPase phospholipid transporting 8A2
Type of Gene: protein-coding
rs546968533 in
ATP8A2 gene and
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4
PMID 22892528 2013 Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.
rs7322916 in
ATP8A2 gene and
Eating Disorders
PMID 23568457 2013 Genetic variants associated with disordered eating.
rs4770891 in
ATP8A2 gene and
Fatty acid measurement
PMID 29738550 2018 Genome-wide association meta-analysis of circulating odd-numbered chain saturated fatty acids: Results from the CHARGE Consortium.
PMID 29514873 2018 Multiplex genomewide association analysis of breast milk fatty acid composition extends the phenotypic association and potential selection of FADS1 variants to arachidonic acid, a critical infant micronutrient.
rs3117848 in
ATP8A2 gene and
Leukemia, Myelocytic, Acute
PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
rs1156904586 in
ATP8A2 gene and
Movement Disorders
PMID 28454995 2017 A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.
PMID 27679995 2016 New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.
PMID 22912588 2012 Mutations in a P-type ATPase gene cause axonal degeneration.
PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
PMID 22892528 2013 Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.
rs1156904586 in
ATP8A2 gene and
Muscle hypotonia
PMID 28454995 2017 A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.
PMID 22892528 2013 Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.
PMID 22912588 2012 Mutations in a P-type ATPase gene cause axonal degeneration.
PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
PMID 27679995 2016 New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.
rs7322916 in
ATP8A2 gene and
Other eating disorders
PMID 23568457 2013 Genetic variants associated with disordered eating.
rs10162249 in
ATP8A2 gene and
Sarcoidosis
PMID 22952805 2012 Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility.