ATP8A2 [The Human Chemical-Genetic Interaction Map Project]

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======= ATP8A2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ATP8A2
  * **<color #00a2e8>Official Name</color>**: ATPase phospholipid transporting 8A2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=51761|51761]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9NTI2|Q9NTI2]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ATP8A2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ATP8A2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/605870|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. Reconstituted to liposomes, the ATP8A2:TMEM30A flippase complex predomiminantly transports phosphatidylserine (PS) and to a lesser extent phosphatidylethanolamine (PE). Proposed to function in the generation and maintenance of phospholipid asymmetry in photoreceptor disk membranes and neuronal axon membranes. May be involved in vesicle trafficking in neuronal cells. Involved in regulation of neurite outgrowth; acting in synergy with TMEM30A. Required for normal visual and auditory function; involved in photoreceptor and inner ear spiral ganglion cell survival.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|HAD|
|E1-E2 ATPase|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|involuntary skeletal muscle contraction|
|aminophospholipid flippase activity|
|regulation of phospholipid translocation|
|positive regulation of phospholipid translocation|
|aminophospholipid translocation|
|aminophospholipid transport|
|neurofilament cytoskeleton organization|
|regulation of phospholipid transport|
|positive regulation of phospholipid transport|
|neuromuscular process controlling posture|
|detection of light stimulus involved in sensory perception|
|ATPase-coupled intramembrane lipid transporter activity|
|detection of light stimulus involved in visual perception|
|retina layer formation|
|response to auditory stimulus|
|eating behavior|
|skeletal muscle contraction|
|positive regulation of multicellular organism growth|
|phospholipid translocation|
|musculoskeletal movement|
|multicellular organismal movement|
|lipid translocation|
|detection of visible light|
|retina morphogenesis in camera-type eye|
|intermediate filament cytoskeleton organization|
|positive regulation of anion transport|
|intermediate filament-based process|
|regulation of membrane lipid distribution|
|neural retina development|
|detection of light stimulus|
|photoreceptor outer segment|
|positive regulation of lipid transport|
|regulation of multicellular organism growth|
|positive regulation of lipid localization|
|feeding behavior|
|phospholipid transport|
|regulation of anion transport|
|inner ear morphogenesis|
|neuromuscular process|
|regulation of lipid transport|
|striated muscle contraction|
|camera-type eye morphogenesis|
|ear morphogenesis|
|detection of external stimulus|
|organophosphate ester transport|
|detection of abiotic stimulus|
|regulation of lipid localization|
|retina development in camera-type eye|
|eye morphogenesis|
|positive regulation of developmental growth|
|inner ear development|
|response to mechanical stimulus|
|magnesium ion binding|
|ear development|
|visual perception|
|sensory perception of light stimulus|
|muscle contraction|
|sensory organ morphogenesis|
|positive regulation of growth|
|endosome|
|positive regulation of ion transport|
|aging|
|positive regulation of neuron projection development|
|embryonic organ morphogenesis|
|lipid transport|
|muscle system process|
|response to light stimulus|
|camera-type eye development|
|lipid localization|
|regulation of developmental growth|
|eye development|
|visual system development|
|sensory system development|
|positive regulation of neuron differentiation|
|axonogenesis|
|positive regulation of cell projection organization|
|skin development|
|axon development|
|cell morphogenesis involved in neuron differentiation|
|embryonic organ development|
|response to radiation|
|organic anion transport|
|positive regulation of neurogenesis|
|neuron projection morphogenesis|
|plasma membrane bounded cell projection morphogenesis|
|cell projection morphogenesis|
|regulation of neuron projection development|
|cell part morphogenesis|
|positive regulation of nervous system development|
|positive regulation of cell development|
|detection of stimulus involved in sensory perception|
|sensory organ development|
|cell morphogenesis involved in differentiation|
|embryonic morphogenesis|
|behavior|
|anion transport|
|regulation of neuron differentiation|
|neuron projection development|
|regulation of growth|
|negative regulation of cell population proliferation|
|detection of stimulus|
|regulation of plasma membrane bounded cell projection organization|
|regulation of ion transport|
|regulation of cell projection organization|
|cell morphogenesis|
|neuron development|
|regulation of neurogenesis|
|cellular component morphogenesis|
|membrane organization|
|anatomical structure formation involved in morphogenesis|
|regulation of nervous system development|
|regulation of cell development|
|animal organ morphogenesis|
|positive regulation of cell differentiation|
|sensory perception|
|embryo development|
|Golgi apparatus|
|positive regulation of transport|
|neuron differentiation|
|cytoskeleton organization|
|plasma membrane bounded cell projection organization|
|response to abiotic stimulus|
|cell projection organization|
|positive regulation of cellular component organization|
|positive regulation of developmental process|
|ion transport|
|nervous system process|
|ATP binding|
|generation of neurons|
|regulation of cell population proliferation|
|neurogenesis|
|cell development|
|positive regulation of multicellular organismal process|
|regulation of cell differentiation|
|nitrogen compound transport|
|regulation of transport|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp22|MLN-4924 2μM R00 exp22]]|-1.93|
|[[:results:exp34|Rotenone 20μM R00 exp34]]|-1.82|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 6646
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 0.22 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ATP8A2 Expression in NALM6 Cells: 0.22'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>