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Gene: ATP8A2 (ATPase phospholipid transporting 8A2) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


Disease Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on ATP8A2
Alliance Gene
NCBI 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



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