MFSD2A: Major Facilitator Superfamily Domain Containing 2A
Key transporter for lysophosphatidylcholine and regulator of blood-brain barrier integrity
Gene Information Card
| Symbol | MFSD2A |
|---|---|
| Full Name | Major Facilitator Superfamily Domain Containing 2A |
| Gene Type | Protein coding |
| Chromosomal Location | 1p34.2 |
| NCBI Gene ID | 84879 ncbi.nlm.nih.gov/gene/84879 |
| Ensembl ID | ENSG00000168389 |
| UniProt ID | Q8NA29 |
| OMIM ID | 614397 |
| HGNC ID | 28497 |
| Aliases | MFSD2, MFSD2A, FLJ14490 |
Description
MFSD2A encodes a sodium-dependent lysophosphatidylcholine (LPC) symporter that is essential for the uptake of omega-3 fatty acids into the brain. It is predominantly expressed in the endothelium of the blood-brain barrier and plays a critical role in maintaining barrier integrity and brain lipid homeostasis. Mutations in MFSD2A cause autosomal recessive primary microcephaly with spastic paraplegia and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly 15 with spastic paraplegia | Loss-of-function mutations impair LPC transport, reducing brain DHA levels and disrupting neurodevelopment | OMIM #616681; multiple homozygous missense and nonsense variants reported |
| Spastic paraplegia 86, autosomal recessive | Defective MFSD2A leads to axonal degeneration due to lipid deficiency | ClinVar; OMIM #617880 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Kidney | 6.1 | Low |
| Liver | 4.3 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hCMEC/D3 (brain endothelial) | High | Model for blood-brain barrier |
| HUVEC | Low | Umbilical vein endothelial cells |
| HEK293 | Not detected | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.541C>T (p.Arg181Cys) | Missense | Rare | Loss of LPC transport activity |
| c.1034G>A (p.Arg345Gln) | Missense | Rare | Impaired sodium binding and transport |
| c.1279C>T (p.Arg427*) | Nonsense | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Homozygous missense and nonsense mutations reduce or abolish LPC transport, leading to microcephaly and spastic paraplegia.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005326~sodium:lysophosphatidylcholine symporter activity | • GO:0015871~lysophosphatidylcholine transport |
| • GO:0016021~integral component of membrane | • GO:0005886~plasma membrane |
| • GO:0006814~sodium ion transport |
Pathways
• Lysophosphatidylcholine transport across blood-brain barrier
• Omega-3 fatty acid metabolism
Protein Summary
MFSD2A is a 12-transmembrane domain protein that functions as a sodium-dependent symporter for lysophosphatidylcholine, particularly LPC-DHA. It is highly expressed in brain endothelial cells and is essential for the selective uptake of omega-3 fatty acids into the brain. The protein also contributes to the formation of the blood-brain barrier by suppressing transcytosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MFSD2A Knockout HEK293 Cell Line | EDJ-KQ10231 | Human | 84879 | Details Get a Quote |
| MFSD2A Knockout HeLa Cell Line | EDJ-KQ36165 | Human | 84879 | Details Get a Quote |
| MFSD2A Knockout A-549 Cell Line | EDJ-KQ37405 | Human | 84879 | Details Get a Quote |
| MFSD2A Knockout HCT 116 Cell Line | EDC07762 | Human | 84879 | Details Get a Quote |
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