Gene content
Symbol	ATP8A2 ( by HUGO)
Name	ATPase, Aminophospholipid Transporter, Class I, Type 8A,...
Category	Tumor suppressor gene
Alias	ATPase Aminophospholipid Transporter Class I Type 8A Member 2 ATPIB ATPase Aminophospholipid Transporter-Like Class I Type 8A Member 2 ML-1 ATPase Class I Type 8A Member 2 EC 3.6.3.1 CAMRQ4 ATP IB Probable Phospholipid-Transporting ATPase IB EC 3.6.3
Cytogenetic band	NCBI: 13q12    Ensembl: 13q12.13
Protein information	AT8A2_HUMAN Size: 1148 amino acids Mass: 129242 Da Tissue specificity: Strongly expressed in the brain, cerebellum, retina and testis [IMAGE] Custom PCR Arrays for ATP8A2 Primer Products: [IMAGE] OriGene qSTAR qPCR primer pairs in human, mouse for ATP8A2 [IMAGE] Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ATP8A2 Function: UniProtKB/Swiss-Prot Summary: AT8A2_HUMAN, Q9NTI2 Catalytic activity: ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2) Enzyme Numbers (IUBMB): EC 3.6.3.11 2 EC 3.6.32 Gene Ontology (GO): Selected molecular function terms (see all 6): About this table GO ID Qualified GO term Evidence PubMed IDs GO:0000166 nucleotide binding -- -- GO:0000287 magnesium ion binding IEA -- GO:0004012 phospholipid-translocating ATPase activity IEA -- GO:0005524 ATP binding IEA -- GO:0019829 cation-transporting ATPase activity IEA -- [IMAGE] Find genes that share ontologies with ATP8A2 About GenesLikeMe Phenotypes: 8 MGI mutant phenotypes (inferred from 3 alleles[IMAGE]) (MGI details for Atp8a2): behavior/neurological growth/size/body hearing/vestibular/ear homeostasis/metabolism integument mortality/aging nervous system vision/eye [IMAGE] Find genes that share phenotypes with ATP8A2 About GenesLikeMe Animal Models: [IMAGE] inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP8A2 [IMAGE] inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ATP8A2 [IMAGE] genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATP8A2 [IMAGE] genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATP8A2 miRNA Products: miRTarBase miRNAs that target ATP8A2: hsa-mir-16-5p (MIRT032045), hsa-mir-30a-5p (MIRT028669) [IMAGE] Block miRNA regulation of human, mouse, rat ATP8A2 using miScript Target Protectors [IMAGE] Selected qRT-PCR Assays for microRNAs that regulate ATP8A2 (see all 21): hsa-miR-4307 hsa-miR-495 hsa-miR-509-5p hsa-miR-200a hsa-miR-141 hsa-miR-629* hsa-miR-7-1* hsa-miR-330-3p [IMAGE] SwitchGear 3'UTR luciferase reporter plasmid: ATP8A2 3' UTR sequence Inhib. RNA Products: [IMAGE] OriGene RNAi products in human, mouse, rat for ATP8A2 [IMAGE] Predesigned siRNA for gene silencing in human, mouse, rat ATP8A2 Gene Editing Products: [IMAGE] DNA2.0 Custom Protein Engineering Service for ATP8A2 Clone Products: [IMAGE] OriGene clones in human, mouse for ATP8A2 (see all 7) OriGene ORF clones in mouse, rat for ATP8A2 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling [IMAGE] GenScript: all cDNA clones in your preferred vector: ATP8A2 (NM_016529) [IMAGE] Browse Sino Biological Human cDNA Clones [IMAGE] DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATP8A2 [IMAGE] Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP8A2 Cell Line Products: [IMAGE] GenScript Custom overexpressing Cell Line Services for ATP8A2 [IMAGE] Browse ESI BIO Cell Lines and PureStem Progenitors for ATP8A2 [IMAGE] In Situ Assay Products: [IMAGE] Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP8A2 Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily [IMAGE]

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR001757	Cation_transp_P_typ_ATPase	ATPase, E1-E2 type	Family
	IPR006539	ATPase_P-typ_Plipid-transp	Phospholipid-translocating P-type ATPase, flippase	Family
	IPR008250	ATPase_P-typ_transduc_dom_A	E1-E2 ATPase-associated region	Domain
Blocks	IPB001757	ATPase	ATPase, E1-E2 type
	IPB008250	E1-E2 ATPase-associated region	E1-E2 ATPase-associated region

Gene Ontology
Type	Term	Evidence	Source	Pub
Biological Process	negative regulation of cell proliferation	TAS	GOA	10551800

Disorder & Mutation
Source	Disease
SWISS-PROT	Note=A chromosomal aberration disrupting ATP8A2 has been found in a patient with severe mental retardation and major hypotonia. Translocation t(10;13)(p12.1;q12.13) (PubMed:20683487)
SWISS-PROT	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 (CMARQ4) [MIM:615268]: A congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and mental retardation. Note=The disease is caused by mutations affecting the gene represented in this entry

ATP8A2 cross reference
PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene