MFSD2B
Major Facilitator Superfamily Domain Containing 2B
Gene Information Card
| Symbol | MFSD2B |
|---|---|
| Full Name | Major Facilitator Superfamily Domain Containing 2B |
| Gene Type | Protein coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 388931 ncbi.nlm.nih.gov/gene/388931 |
| Ensembl ID | ENSG00000188313 |
| UniProt ID | Q8NHP8 |
| OMIM ID | 616733 |
| HGNC ID | 28497 |
| Aliases | MFSD2B, FLJ20489 |
Description
MFSD2B (Major Facilitator Superfamily Domain Containing 2B) encodes a transmembrane protein that functions as a sphingosine-1-phosphate (S1P) transporter, primarily in erythrocytes and platelets. It mediates the export of S1P from red blood cells into plasma, playing a critical role in S1P signaling and vascular homeostasis. The gene is located on chromosome 2p23.3 and is expressed in various tissues, with highest levels in blood and spleen.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sphingosine-1-phosphate transporter deficiency | Loss of MFSD2B function reduces plasma S1P levels, impairing lymphocyte egress and vascular integrity. | OMIM #616733; PMID: 28228519 |
| Anemia | Altered S1P transport may contribute to erythrocyte dysfunction. | ClinVar; PMID: 28228519 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Bone marrow | 6.1 | Low |
| Lung | 3.2 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Erythrocytes | 12.5 | Major site of S1P export |
| Platelets | 8.0 | Contributes to plasma S1P |
| K562 | 6.5 | Erythroleukemia cell line |
| HEK293 | 0.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
MFSD2B loss-of-function mutations reduce S1P export from erythrocytes, leading to low plasma S1P levels.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • integral component of plasma membrane (GO:0005887) | • sphingosine-1-phosphate transmembrane transporter activity (GO:0015245) |
| • cholesterol transport (GO:0030301) | • extracellular exosome (GO:0070062) |
Pathways
• Sphingosine-1-phosphate signaling pathway
• S1P transport
Protein Summary
MFSD2B is a 12-transmembrane domain protein belonging to the major facilitator superfamily. It localizes to the plasma membrane of erythrocytes and platelets, where it exports intracellular sphingosine-1-phosphate (S1P) into the bloodstream. This transport is essential for maintaining plasma S1P levels, which regulate lymphocyte trafficking, vascular permeability, and immune responses. The protein is encoded by the MFSD2B gene on chromosome 2p23.3.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MFSD2B Knockout HEK293 Cell Line | EDJ-KQ14250 | Human | 388931 | Details Get a Quote |
| MFSD2B Knockout HeLa Cell Line | EDJ-KQ60052 | Human | 388931 | Details Get a Quote |
| MFSD2B Knockout A-549 Cell Line | EDJ-KQ68515 | Human | 388931 | Details Get a Quote |
| MFSD2B Knockout HCT 116 Cell Line | EDJ-KQ76890 | Human | 388931 | Details Get a Quote |
