Molecular Target Synopsis
Domains and Structures
Drugs and Clinical Candidates
Ligand Efficiency Plot
Family Cladogram
Interaction Network
Gene Expression
Gene Copy Number Variation
Germline Genetics

MFSD2A (Q8NA29) - Overview - Molecular Target Synopsis


MFSD2A, Sodium-dependent lysophosphatidylcholine symporter 1
UniProt Q8NA29

Also Known as NLS1_HUMAN, MFSD2A, MFSD2, NLS1

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). Interacts with ERVFRD-1/syncytin-2.

Isoforms / Transcripts (Protein Coding)

Sub-cellular localization

UniProt: MFSD2A is active in the following subcellular-locations: cell membrane, endoplasmic reticulum membrane.
GO terms: MFSD2A is active in the following subcellular-locations: endoplasmic reticulum membrane, integral component of plasma membrane, plasma membrane.

GO terms

Gene Copy Number Variation

In COSMIC - Cell Lines Project MFSD2A has gain in 17 cell-lines, loss in 1 cell-lines and no signal in 987 cell-lines. (see details)

Gene Expression

In NCI60, the highest expressing cell lines are:

In Array Express (RNA-seq of 675 commonly used human cancer cell lines), the highest expressing cell lines are: HCC33, RMG-I, THP-1

In Array Express (RNA-seq of long poly adenylated RNA and long non poly adenylated RNA from ENCODE cell lines), the highest expressing cell lines are: HMEC, SK-N-SH, NHEK

(see details)