ATP8A2 Chromosome 13

ATPase phospholipid transporting 8A2

56 variants 56 Health Risk

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What This Gene Does

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]

Gene Info

Gene Group

ATPase phospholipid transporting

Locus Type

gene with protein product

Location

13q12.13

Ensembl

ENSG00000132932

Associated Conditions (7)

ATP8A2-related disorder

Cerebellar ataxia

intellectual disability

and dysequilibrium syndrome 4

Inborn genetic diseases

Colon adenocarcinoma

Dysequilibrium syndrome

Key Variants

RS199641767

Conflicting classifications of pathogenicity

Health Risk

RS201904651

Conflicting classifications of pathogenicity

Health Risk

RS202017613

Conflicting classifications of pathogenicity

Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

Health Risk

RS202061089

Conflicting classifications of pathogenicity

Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

Health Risk

RS202073376

Conflicting classifications of pathogenicity

Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

Health Risk

RS369291641

Conflicting classifications of pathogenicity

Health Risk

RS567911133

Conflicting classifications of pathogenicity

Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

Health Risk

RS764838044

Conflicting classifications of pathogenicity

Health Risk

RS764956567

Conflicting classifications of pathogenicity

Inborn genetic diseases, ATP8A2-related disorder, Inborn genetic diseases

Health Risk

RS774959381

Conflicting classifications of pathogenicity

Health Risk

RS864309608

Conflicting classifications of pathogenicity

Health Risk

RS930632087

Conflicting classifications of pathogenicity

Health Risk

All Variants (56)

RSID	Category	Clinical Significance	Conditions
RS2543093050	Health Risk	Pathogenic	—
RS546968533	Health Risk	Pathogenic	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
RS1156904586	Health Risk	Pathogenic/Likely pathogenic	Inborn genetic diseases, Cerebellar ataxia, intellectual disability
RS373909734	Health Risk	Pathogenic/Likely pathogenic	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
RS755133567	Health Risk	Pathogenic/Likely pathogenic	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
RS779337270	Health Risk	Pathogenic/Likely pathogenic	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

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