MFSD2A [The Human Chemical-Genetic Interaction Map Project]

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======= MFSD2A =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: MFSD2A
  * **<color #00a2e8>Official Name</color>**: major facilitator superfamily domain containing 2A
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=84879|84879]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8NA29|Q8NA29]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=MFSD2A&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MFSD2A|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/614397|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene is a transmembrane protein and sodium-dependent lysophosphatidylcholine transporter. The encoded protein is involved in the establishment of the blood-brain barrier and is required for brain growth and function. Defects in this gene are a cause of a progressive microcephaly syndrome. [provided by RefSeq, Mar 2017]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Sodium-dependent lysophosphatidylcholine (LPC) symporter, which plays an essential role for blood-brain barrier formation and function (By similarity). Specifically expressed in endothelium of the blood-brain barrier of micro-vessels and transports LPC into the brain (By similarity). Transport of LPC is essential because it constitutes the major mechanism by which docosahexaenoic acid (DHA), an omega-3 fatty acid that is essential for normal brain growth and cognitive function, enters the brain (PubMed:26005868). Transports LPC carrying long-chain fatty acids such LPC oleate and LPC palmitate with a minimum acyl chain length of 14 carbons (By similarity). Does not transport docosahexaenoic acid in unesterified fatty acid (By similarity). Specifically required for blood-brain barrier formation and function, probably by mediating lipid transport (By similarity). Not required for central nervous system vascular morphogenesis (By similarity). Acts as a transporter for tunicamycin, an inhibitor of asparagine-linked glycosylation (PubMed:21677192). In placenta, acts as a receptor for ERVFRD-1/syncytin-2 and is required for trophoblast fusion (PubMed:18988732, PubMed:23177091). {ECO:0000250|UniProtKB:Q9DA75, ECO:0000269|PubMed:18988732, ECO:0000269|PubMed:21677192, ECO:0000269|PubMed:23177091, ECO:0000269|PubMed:26005868}.

<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'>
|MFS 1|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|transport across blood-brain barrier|
|lysophospholipid:sodium symporter activity|
|lysophosphatidylcholine flippase activity|
|lipid transport across blood-brain barrier|
|lysophospholipid transport|
|fatty acid transmembrane transporter activity|
|establishment of blood-brain barrier|
|phospholipid transporter activity|
|transcytosis|
|phosphatidylcholine biosynthetic process|
|transporter activity|
|symporter activity|
|carbohydrate derivative transport|
|fatty acid transport|
|carbohydrate transport|
|phosphatidylcholine metabolic process|
|hippocampus development|
|phospholipid transport|
|limbic system development|
|organophosphate ester transport|
|monocarboxylic acid transport|
|pallium development|
|ammonium ion metabolic process|
|glycerophospholipid biosynthetic process|
|glycerolipid biosynthetic process|
|phospholipid biosynthetic process|
|telencephalon development|
|organic acid transport|
|carboxylic acid transport|
|lipid transport|
|glycerophospholipid metabolic process|
|lipid localization|
|phospholipid metabolic process|
|glycerolipid metabolic process|
|forebrain development|
|organic anion transport|
|organophosphate biosynthetic process|
|lipid biosynthetic process|
|anion transport|
|brain development|
|head development|
|organophosphate metabolic process|
|endoplasmic reticulum membrane|
|cellular lipid metabolic process|
|central nervous system development|
|lipid metabolic process|
|transmembrane transport|
|ion transport|
|integral component of plasma membrane|
|organonitrogen compound biosynthetic process|
|cell development|
|vesicle-mediated transport|
</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:exp389|PF-06409577 20μM R07 exp389]]|1.76|
|[[:results:exp432|YM155 0.001μM R08 exp432]]|1.76|
|[[:results:exp476|Dihydrosphingosine 8μM R08 exp476]]|1.77|
|[[:results:exp431|Rotenone 0.07μM R08 exp431]]|1.83|
|[[:results:exp293|Myriocin 25μM R06 exp293]]|2.09|
|[[:results:exp418|Tunicamycin 0.04μM R07 exp418]]|7.1|
|[[:results:exp419|Tunicamycin 0.04 to 0.075μM  on day4 R07 exp419]]|8.5|
|[[:results:exp420|Tunicamycin 0.04 to 0.125μM  on day4 R07 exp420]]|8.5|
</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>**: 10317
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.8 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='MFSD2A Expression in NALM6 Cells: 4.8'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>