MFSD2A
MFSD2 lysolipid transporter A, lysophospholipid | FLJ14490, SLC59A1, MFSD2

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]

Developmental clusters: GC4
Biological processes 76 terms
brain development (GO:0007420)brain development (GO:0007420)brain development (GO:0007420)carbohydrate transport (GO:0008643)cellular response to starvation (GO:0009267)cognition (GO:0050890)embryonic brain development (GO:1990403)endoplasmic reticulum membrane (GO:0005789)energy homeostasis (GO:0097009)establishment of blood-brain barrier (GO:0060856)establishment of blood-brain barrier (GO:0060856)establishment of blood-retinal barrier (GO:1990963)fatty acid transmembrane transporter activity (GO:0015245)fatty acid transmembrane transporter activity (GO:0015245)fatty acid transmembrane transporter activity (GO:0015245)fatty acid transport (GO:0015908)fatty acid transport (GO:0015908)fatty acid transport (GO:0015908)fatty acid transport (GO:0015908)hippocampus development (GO:0021766)hippocampus development (GO:0021766)lipid translocation (GO:0034204)lipid transport across blood-brain barrier (GO:1990379)lipid transport across blood-brain barrier (GO:1990379)lipid transport across blood-brain barrier (GO:1990379)lipid transport across blood-brain barrier (GO:1990379)long-chain fatty acid transmembrane transporter activity (GO:0005324)long-chain fatty acid transmembrane transporter activity (GO:0005324)long-chain fatty acid transmembrane transporter activity (GO:0005324)long-chain fatty acid transport (GO:0015909)long-chain fatty acid transport (GO:0015909)lysophosphatidylcholine flippase activity (GO:0140348)lysophospholipid translocation (GO:0140329)lysophospholipid translocation (GO:0140329)lysophospholipid transport (GO:0051977)lysophospholipid transport (GO:0051977)lysophospholipid transport (GO:0051977)lysophospholipid transport (GO:0051977)lysophospholipid:sodium symporter activity (GO:0051978)lysophospholipid:sodium symporter activity (GO:0051978)lysophospholipid:sodium symporter activity (GO:0051978)lysosome (GO:0005764)maintenance of blood-brain barrier (GO:0035633)maintenance of blood-brain barrier (GO:0035633)membrane (GO:0016020)membrane (GO:0016020)motor behavior (GO:0061744)negative regulation of fatty acid beta-oxidation (GO:0031999)oleate transmembrane transporter activity (GO:1901480)phosphatidylcholine biosynthetic process (GO:0006656)photoreceptor cell morphogenesis (GO:0008594)photoreceptor cell outer segment organization (GO:0035845)plasma membrane (GO:0005886)plasma membrane (GO:0005886)plasma membrane (GO:0005886)plasma membrane (GO:0005886)plasma membrane (GO:0005886)plasma membrane (GO:0005886)positive regulation of cell growth (GO:0030307)positive regulation of triglyceride biosynthetic process (GO:0010867)protein binding (GO:0005515)regulation of dendrite development (GO:0050773)regulation of multicellular organism growth (GO:0040014)regulation of neuron projection arborization (GO:0150011)regulation of phosphatidylcholine metabolic process (GO:0150172)regulation of phosphatidylcholine metabolic process (GO:0150172)regulation of phosphatidylcholine metabolic process (GO:0150172)regulation of phosphatidylethanolamine metabolic process (GO:0150175)retina morphogenesis in camera-type eye (GO:0060042)retinal pigment epithelium development (GO:0003406)symporter activity (GO:0015293)transcytosis (GO:0045056)transcytosis (GO:0045056)transmembrane transport (GO:0055085)transport across blood-brain barrier (GO:0150104)very-low-density lipoprotein particle assembly (GO:0034379)
Expression (TPM)
MFSD2A — as a Regulated Gene

TFs regulating MFSD2A 0 TFs

Transcription factors with Perturb-seq knockdown data for MFSD2A. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = MFSD2A upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to MFSD2A

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of MFSD2A, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Accessibility Element Dist. to TSS Link type TFs
chr1:39,691,164–39,691,639 263.7 kb Distal (>10kb) Multiome 333
chr1:39,701,474–39,702,144 253.3 kb Distal (>10kb) Multiome 352
chr1:39,738,639–39,739,177 216.3 kb Distal (>10kb) Multiome 534
chr1:39,788,434–39,789,609 166.1 kb Distal (>10kb) Multiome 548
chr1:39,883,104–39,883,825 71.6 kb Distal (>10kb) Multiome 732
chr1:39,898,602–39,899,404 56.0 kb Distal (>10kb) Multiome 394
chr1:39,900,435–39,902,736 53.0 kb Distal (>10kb) Multiome 848
chr1:39,922,214–39,922,725 32.6 kb Distal (>10kb) Multiome 180
chr1:39,954,782–39,955,493 28 bp At TSS Multiome 479
chr1:40,039,712–40,041,155 85.4 kb Distal (>10kb) Multiome 992
chr1:40,096,788–40,097,757 142.1 kb Distal (>10kb) Multiome 852
chr1:40,161,107–40,161,976 206.2 kb Distal (>10kb) Multiome 954

Genome Browser

Genomic view of the MFSD2A locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.

chr1:39,681,164 – 40,171,976
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq
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