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FLASH GENE
Symbol MFSD2A contributors: mct - updated : 27-09-2016
HGNC name major facilitator superfamily domain containing 2A
HGNC id 25897
Corresponding disease
MCPH15 microcephaly 15, primary
Location 1p34.2      Physical location : 40.420.783 - 40.435.627
Synonym name
  • major facilitator superfamily domain-containing protein 2A
  • sodium-dependent LPC symporter 1
    • Synonym symbol(s) HMFN0656, FLJ14490, FLJ35904, MFSD2, NLS1
    DNA
    TYPE functioning gene
    STRUCTURE 14.86 kb     14 Exon(s)
    regulatory sequence Promoter
    text structure
  • SNP rs12072037 modulates MFSD2A promoter activity and thus might affect MFSD2A levels in normal lung and in lung tumors
    • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 2236 - 543 - 2014 24828044
    14 - 2197 - 530 - 2014 24828044
    14 - 2075 - 491 - 2014 24828044
    12 - 1932 - 374 - 2014 24828044
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Visualeye   highly Homo sapiensFetal
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE) highly Homo sapiensFetal
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 10-12 membrane-spanning domains
  • transmembrane helical AAs essential for mediating Tunicamycin sensitivity
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • displays an oscillatory expression profile in Brown adipose tissue and liver, consistent with a circadian rhythm
  • plays potentially a role in adaptive thermogenesis
  • is potentially a novel lung cancer tumor suppressor gene that regulates cell cycle progression and matrix attachment
  • critical mediator of TM (Tunicamycin) toxicity, and having a critical role by acting as a putative TM transporter at the plasma membrane
  • is a nutritionally regulated gene that plays myriad roles in body growth and development, motor function, and lipid metabolism
  • is a key regulator of BBB function that may act by suppressing transcytosis in CNS endothelial cells
  • is required for brain uptake of docosahexaenoic acid (DHA), an omega-3 fatty acid that is essential for normal brain growth and cognitive function
  • is specifically expressed on the cell membrane of brain-microvascular endothelial cell (BMEC) and is implicated in the delivery of some substances across the blood-brain barrier (BBB)
  • sodium-dependent lysophosphatidylcholine transporter expressed at the blood-brain barrier endothelium
  • uniquely transports lipids, implying that MFSD2A harbors unique structural features and transport mechanism
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • receptor for syncytin-2 (ERVFRD-1) in the placenta that mediates cell fusion
  • MFSD2A is the Syncytin-2 (ERVFRD1) receptor, and is important for trophoblast fusion
  • is a fasting-induced gene regulated by both PPARA and glucagon signaling in the liver
  • lysophosphatidylcholine (LPC) transport via MFSD2A is an important pathway for fatty acid docosahexaenoic acid (DHA) uptake in eye and for development of photoreceptor membrane discs
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCPH15
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    strongly downregulated in non-small cell lung cancer cell lines of different histotypes and in primary lung adenocarcinomas
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Mfsd2a KO mice exhibited a specific reduction in outer rod segment length, disorganized outer rod segment discs, and mislocalization of and reduction in rhodopsin early in postnatal development without loss of photoreceptors
  • gene-targeted Mfsd2a knockout mice are smaller, leaner, and have decreased serum, liver and brown adipose triglycerides