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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
Namemajor facilitator superfamily domain containing 2A
OMIM IDMIM:614397
Ensembl IDEnsembl:ENSG00000168389
HGNC IDHGNC:HGNC:25897
PHARMGKB IDPA165751549
Map Location1p34.2

GO terms in MFSD2A


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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
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Gene expression in normal tissue: MFSD2A

16 tissues mixtureadiposeadrenalbrainbreastcolonheartkidneyliverlunglymph nodeovaryprostateskeletal muscletestesthyroidwhite blood cells

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 136undefinedtissue: undefined cancer: SMALL_CELL_CARCINOMA model num: 10LUNtissue: LUN cancer: LUNG model num: 0LUNGtissue: LUNG cancer: undefined model num: 66BOWEtissue: BOWE cancer: BOWEL model num: 0BOWELtissue: BOWEL cancer: undefined model num: 4

Gene-drug pathway distribution

undefined35ERK MAPK signaling1Mitosis1Cell cycle1Metabolism1DNA replication1Apoptosis regulation1IGFR signaling1Proteasome1Chromatin histone acetylation1

Pathways in MFSD2A


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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
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD255 SB225002 3
iGMDRD474 Avrainvillamide 5
iGMDRD138 PX 12 5
iGMDRD226 ML006 3
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in MFSD2A

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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