Entity Details

Primary name MFSD2A
Entity type gene
Source Source Link

Details

PrimaryID84879
RefseqGeneNG_053084
SymbolMFSD2A
Namemajor facilitator superfamily domain containing 2A
Chromosome1
Location1p34.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-28
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsNLS1_HUMAN

GO terms

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GOName
GO:0003406 retinal pigment epithelium development
GO:0005324 long-chain fatty acid transporter activity
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006656 phosphatidylcholine biosynthetic process
GO:0007420 brain development
GO:0008594 photoreceptor cell morphogenesis
GO:0008643 carbohydrate transport
GO:0009267 cellular response to starvation
GO:0010867 positive regulation of triglyceride biosynthetic process
GO:0015245 fatty acid transmembrane transporter activity
GO:0015293 symporter activity
GO:0015908 fatty acid transport
GO:0015909 long-chain fatty acid transport
GO:0016021 integral component of membrane
GO:0021766 hippocampus development
GO:0030307 positive regulation of cell growth
GO:0031999 negative regulation of fatty acid beta-oxidation
GO:0034379 very-low-density lipoprotein particle assembly
GO:0035633 maintenance of blood-brain barrier
GO:0035845 photoreceptor cell outer segment organization
GO:0040014 regulation of multicellular organism growth
GO:0045056 transcytosis
GO:0050773 regulation of dendrite development
GO:0050890 cognition
GO:0051977 lysophospholipid transport
GO:0051978 lysophospholipid:sodium symporter activity
GO:0060042 retina morphogenesis in camera-type eye
GO:0060856 establishment of blood-brain barrier
GO:0061744 motor behavior
GO:0071702 organic substance transport
GO:0097009 energy homeostasis
GO:0140329 lysophospholipid translocation
GO:0140348 lysophosphatidylcholine flippase activity
GO:0150011 regulation of neuron projection arborization
GO:0150104 transport across blood-brain barrier
GO:0150172 regulation of phosphatidylcholine metabolic process
GO:0150175 regulation of phosphatidylethanolamine metabolic process
GO:0150178 regulation of phosphatidylserine metabolic process
GO:1901480 oleate transmembrane transporter activity
GO:1990379 lipid transport across blood-brain barrier

Diseases

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Disease IDSourceNameDescription
616486 OMIMMicrocephaly 15, primary, autosomal recessive (MCPH15)A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
MFSD2ATMEM242BioGRID, IntAct32296183 details
MFSD2AADRB2BioGRID, MINT28298427 details
MFSD2AERVFRD-1IntAct26853155 details