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Gene: ATP8A2 (ATPase phospholipid transporting 8A2) Homo sapiens
Symbol: ATP8A2
Name: ATPase phospholipid transporting 8A2
Description: Predicted to have ATP binding activity; aminophospholipid flippase activity; and magnesium ion binding activity. Predicted to be involved in neuron development and phospholipid translocation. Localizes to the Golgi apparatus; nucleoplasm; and plasma membrane. Implicated in cerebellar ataxia, mental retardation and dysequlibrium syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATP; ATPase class I type 8A member 2; ATPase, aminophospholipid transporter, class I, type 8A, member 2; ATPase, aminophospholipid transporter-like, class I, type 8A, member 2; ATPIB; CAMRQ4; DKFZp434B1913; IB; ML-1; P4-ATPase flippase complex alpha subunit ATP8A2; phospholipid-transporting ATPase IB; probable phospholipid-transporting ATPase IB
Mus musculus (house mouse) : Atp8a2 (ATPase, aminophospholipid transporter-like, class I, type 8A, member 2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Atp8a2 (ATPase phospholipid transporting 8A2)  Alliance
Pan paniscus (bonobo/pygmy chimpanzee) : ATP8A2 (ATPase phospholipid transporting 8A2)
Canis lupus familiaris (dog) : ATP8A2 (ATPase phospholipid transporting 8A2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Atp8a2 (ATPase phospholipid transporting 8A2)
Sus scrofa (pig) : LOC100523747 (phospholipid-transporting ATPase IB)
more info ...
Related Pseudogenes: ATP8A2P1   ATP8A2P2   ATP8A2P3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh381325,371,974 - 26,025,851 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371325,946,209 - 26,599,989 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361324,844,209 - 25,493,420 (+)NCBINCBI36hg18NCBI36
Build 341324,941,114 - 25,492,996NCBI
Celera137,010,413 - 7,663,625 (+)NCBI
Cytogenetic Map13q12.13NCBI
HuRef136,857,229 - 7,413,507 (+)NCBIHuRef
CHM1_11325,914,326 - 26,568,138 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status



Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on ATP8A2
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1344629
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.