MFSD2A

Gene Information

Official Symbol: MFSD2A
Official Name: major facilitator superfamily domain containing 2A
Aliases and Previous Symbols: N/A
Entrez ID: 84879
UniProt: Q8NA29
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez Summary: 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].
UniProt Summary: 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}.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Screen	Score
PF-06409577 20μM R07 exp389	1.76
YM155 0.001μM R08 exp432	1.76
Dihydrosphingosine 8μM R08 exp476	1.77
Rotenone 0.07μM R08 exp431	1.83
Myriocin 25μM R06 exp293	2.09
Tunicamycin 0.04μM R07 exp418	7.1
Tunicamycin 0.04 to 0.075μM on day4 R07 exp419	8.5
Tunicamycin 0.04 to 0.125μM on day4 R07 exp420	8.5

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

Essentiality in NALM6

Essentiality Rank: 10317
Expression level (log2 read counts): 4.8

Expression Distribution

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