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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MFSD2B
MFSD2 lysolipid transporter B, sphingolipid
Chromosome 2 · 2p23.3
NCBI Gene: 388931Ensembl: ENSG00000205639.12HGNC: HGNC:37207UniProt: A6NFX1
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
lipid transportplasma membranesphingolipid intramembrane carrier activitytransmembrane transportneurodegenerative diseaseAbnormality of the skeletal systemFamilial hemophagocytic lymphohistiocytosishemoglobin D disease
✦AI Summary

MFSD2B is a sphingosine-1-phosphate (S1P) transporter that mediates S1P export from red blood cells and platelets 1. As a major facilitator superfamily transporter, MFSD2B functions as a proton-gradient-dependent uniporter that recognizes multiple S1P species and can also mediate S1P import 2. Structurally, S1P binds deeply within the C-domain with its phosphate group coordinated by polar residues, and translocation occurs via a TM2/TM11 lateral opening 2. Physiologically, MFSD2B contributes approximately half of circulating plasma S1P levels 1. In erythrocytes, MFSD2B-mediated S1P export is critical for red blood cell morphology and adaptation to hypoxia 3. In platelets, MFSD2B-derived S1P is essential for platelet aggregation and thrombus formation 3, while also providing cardioprotection during myocardial infarction 4. MFSD2B also functions in cardiomyocytes, where intracellular S1P accumulation (via reduced MFSD2B activity) protects against hypertension-induced cardiac remodeling by inhibiting L-type calcium channels through protein phosphatase 2A activation 5. In longevity individuals, reduced MFSD2B expression in erythrocytes elevates intracellular S1P, promoting metabolic reprogramming and enhanced antioxidative capacity 6.

Sources cited
1
MFSD2B is the essential exporter of S1P from red blood cells and platelets; contributes ~50% of plasma S1P pool
PMID: 29045386
2
MFSD2B structure shows S1P binding in C-domain; functions as uniporter with TM2/TM11 lateral opening for translocation
PMID: 41648189
3
MFSD2B regulates RBC morphology, cell shape, and adaptation to hypoxia; required for platelet aggregation
PMID: 37390971
4
Cardiac MFSD2B deficiency protects against hypertension-induced remodeling via S1P-mediated L-type calcium channel inhibition
PMID: 39110173
5
Platelet MFSD2B-released S1P provides cardioprotection during myocardial infarction
PMID: 37100836
6
Reduced MFSD2B in longevity individuals elevates erythrocyte S1P, promoting metabolic reprogramming and oxidative stress resistance
PMID: 39924931
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.33Weak
Abnormality of the skeletal systemOpen Targets
0.13Weak
Familial hemophagocytic lymphohistiocytosisOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.06Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.05Suggestive
Blackfan-Diamond anemiaOpen Targets
0.05Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.05Suggestive
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
0.05Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.05Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.05Suggestive
dominant beta-thalassemiaOpen Targets
0.05Suggestive
smoking cessationOpen Targets
0.05Suggestive
acute erythroleukemiaOpen Targets
0.05Suggestive
hemoglobin E diseaseOpen Targets
0.05Suggestive
Congenital dyserythropoietic anemia type IOpen Targets
0.05Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.04Suggestive
microcytic anemia with liver iron overloadOpen Targets
0.04Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.04Suggestive
mood disorderOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPHK1Protein interaction72%SPNS2Protein interaction70%SPNS1Protein interaction60%PCTPShared pathway25%PPM1LShared pathway20%ABCA6Shared pathway20%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
5%
Liver
2%
Ovary
2%
Heart
2%
Brain
0%
Gene Interaction Network
Click a node to explore
MFSD2BSPHK1SPNS2SPNS1PCTPPPM1LABCA6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt A6NFX1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.30LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.04 [0.84–1.30]
RankingsWhere MFSD2B stands among ~20K protein-coding genes
  • #14,467of 20,598
    Most Researched19
  • #13,716of 17,882
    Most Constrained (LOEUF)1.30
Genes detectedMFSD2B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Longevity Humans Have Youthful Erythrocyte Function and Metabolic Signatures.
PMID: 39924931
Aging Cell · 2025
1.00
2
An erythrocyte-centric view on the MFSD2B sphingosine-1-phosphate transporter.
PMID: 37390971
Pharmacol Ther · 2023
0.90
3
Deficiency of the sphingosine-1-phosphate (S1P) transporter Mfsd2b protects the heart against hypertension-induced cardiac remodeling by suppressing the L-type-Ca
PMID: 39110173
Basic Res Cardiol · 2024
0.80
4
Revealing concealed cardioprotection by platelet Mfsd2b-released S1P in human and murine myocardial infarction.
PMID: 37100836
Nat Commun · 2023
0.70
5
Structure and mechanism of human sphingosine-1-phosphate transporter MFSD2B.
PMID: 41648189
bioRxiv · 2026
0.60