MFSD2A
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
major facilitator superfamily domain containing 2A | MIM:614397 | Ensembl:ENSG00000168389 | HGNC:HGNC:25897 | PA165751549 | 1p34.2 |
GO terms in MFSD2A
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
CC | IEA | GO:0005789 | endoplasmic reticulum membrane |
CC | TAS | GO:0005886 | plasma membrane |
CC | ISS | GO:0005887 | integral component of plasma membrane |
BP | TAS | GO:0006656 | phosphatidylcholine biosynthetic process |
BP | ISS | GO:0015908 | fatty acid transport |
BP | ISS | GO:0021766 | hippocampus development |
BP | ISS | GO:0045056 | transcytosis |
BP | IDA | GO:0051977 | lysophospholipid transport |
BP | IEA | GO:0055085 | transmembrane transport |
BP | ISS | GO:0060856 | establishment of blood-brain barrier |
BP | ISS | GO:1990379 | lipid transport across blood brain barrier |
MF | ISS | GO:0005548 | phospholipid transporter activity |
MF | TAS | GO:0005548 | phospholipid transporter activity |
MF | ISS | GO:0015245 | fatty acid transmembrane transporter activity |
MF | ISS | GO:0015293 | symporter activity |
MF | IDA | GO:0051978 | lysophospholipid transporter activity |
Gene expression in normal tissue: MFSD2A
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MFSD2A
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-1430728 | Metabolism |
reactome | R-HSA-1483191 | Synthesis of PC |
reactome | R-HSA-1483206 | Glycerophospholipid biosynthesis |
reactome | R-HSA-1483257 | Phospholipid metabolism |
reactome | R-HSA-556833 | Metabolism of lipids |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD255 | SB225002 | 3 |
iGMDRD474 | Avrainvillamide | 5 |
iGMDRD138 | PX 12 | 5 |
iGMDRD226 | ML006 | 3 |
iGMDRD801 | 2,4-dideoxy-DC-45-A2 | 2 |
iGMDRD885 | Compound 110 | 5 |
iGMDRD782 | DC-45-A2 | 4 |
iGMDRD562 | Navitoclax | 6 |
iGMDRD577 | BIX01294 | 5 |
iGMDRD188 | Piperlongumine | 10 |
iGMDRD524 | ISX-9 | 3 |
iGMDRD268 | Cerulenin | 5 |
iGMDRD1008 | SR-II-138A | 10 |
iGMDRD772 | BRD4770 | 5 |
iGMDRD599 | Salermide | 2 |
iGMDRD889 | Compound 7d-cis | 10 |
iGMDRD427 | ABT737 | 8 |
iGMDRD546 | BMS-754807 | 2 |
iGMDRD144 | NSC95397 | 9 |
iGMDRD152 | 179324-69-7 | 1 |
iGMDRD201 | SKI II | 10 |
iGMDRD446 | LY 2183240 | 3 |
iGMDRD634 | SCHEMBL2608041 | 6 |
iGMDRD280 | CYTOCHALASIN B | 15 |
iGMDRD158 | NSC141540 | 2 |
iGMDRD213 | SMR000068650 | 6 |
iGMDRD105 | Triptolide | 1 |
iGMDRD289 | Parthenolide | 8 |
iGMDRD286 | Nsc 632839 | 3 |
iGMDRD322 | FK 866 | 3 |
iGMDRD82 | Quiflapon | 10 |
iGMDRD353 | PD0325901 | 1 |
iGMDRD300 | Tozasertib | 5 |
iGMDRD148 | Pifithrin-mu | 5 |
iGMDRD584 | VER 155008 | 3 |
iGMDRD307 | Manumycin A | 9 |
iGMDRD330 | BRD4132 | 2 |
iGMDRD523 | Cyanoquinoline, 11 | 2 |
iGMDRD351 | GW843682X | 3 |
iGMDRD698 | Neratinib | 3 |
iGMDRD85 | Ursolic acid | 3 |
iGMDRD154 | NSC23766 | 2 |
iGMDRD945 | ML214 | 6 |
iGMDRD511 | CHEMBL399379 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MFSD2A