ABCA2 [The Human Chemical-Genetic Interaction Map Project]

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======= ABCA2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ABCA2
  * **<color #00a2e8>Official Name</color>**: ATP binding cassette subfamily A member 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=20|20]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9BZC7|Q9BZC7]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ABCA2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ABCA2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/600047|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Probable transporter, its natural substrate has not been found yet. May have a role in macrophage lipid metabolism and neural development.

<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'>
|ABC tran|
|ABC2 membrane 3|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|ATP-binding cassette (ABC) transporter complex|
|regulation of intracellular sterol transport|
|regulation of intracellular cholesterol transport|
|regulation of intracellular lipid transport|
|response to cholesterol|
|response to sterol|
|lipid transporter activity|
|regulation of cholesterol transport|
|regulation of sterol transport|
|ATPase-coupled transmembrane transporter activity|
|nucleotide binding|
|cholesterol homeostasis|
|sterol homeostasis|
|regulation of lipid transport|
|lipid homeostasis|
|regulation of lipid localization|
|microtubule organizing center|
|endosome membrane|
|response to alcohol|
|ATPase activity|
|lysosome|
|cytoplasmic vesicle|
|endosome|
|lipid transport|
|lysosomal membrane|
|lipid localization|
|response to steroid hormone|
|regulation of intracellular transport|
|intracellular membrane-bounded organelle|
|response to lipid|
|response to hormone|
|regulation of cellular localization|
|response to organic cyclic compound|
|ion transmembrane transport|
|response to drug|
|chemical homeostasis|
|lipid metabolic process|
|transmembrane transport|
|ion transport|
|response to endogenous stimulus|
|ATP binding|
|response to oxygen-containing compound|
|homeostatic process|
|regulation of transport|
|membrane|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' 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:exp47|Lapatinib 5μM R01 exp47]]|1.79|
|[[:results:exp42|BI-6727 0.001μM R01 exp42]]|1.97|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:r:rrm1|RRM1]]|0.503|
</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>**: 9458
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.53 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ABCA2 Expression in NALM6 Cells: 3.53'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>