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FLASH GENE
Symbol SPNS2 contributors: mct - updated : 05-04-2023
HGNC name spinster homolog 2 (Drosophila)
HGNC id 26992
Corresponding disease
DFNB115 deafness, autosomal recessive 115
Location 17p13.2      Physical location : 4.402.128 - 4.443.228
Synonym name
  • solute carrier family 63 member 2
  • sphingolipid transporter 2
  • Synonym symbol(s) DFNB115, SLC62A2, SLC63A2
    DNA
    TYPE cluster
    STRUCTURE 41.15 kb     13 Exon(s)
    regulatory sequence
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 4349 - 549 - 2011 21084291
    EXPRESSION
    Rna function SPNS2 mRNA is abundant in lung and placenta and moderately expressed in many other tissues
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to zebrafish Spns2
    Homologene
    FAMILY
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • FTY720-P (a new class of immunosuppressors that has been approved as a novel oral therapeutic drug for multiple sclerosis) transporter in cells
  • can transport S1P analogues accumulated inside cells, but only transports phosphorylated sphingolipids
  • SPNS2 is an S1P transporte that plays a role in regulation not only of blood S1P but also lymph node and lymph S1P levels and consequently influences lymphocyte trafficking and lymphatic vessel network organization
  • plays key roles in regulating the cellular functions in non-small cell lung cancer (NSCLC) cells
  • broad role for SPNS2-mediated S1P transport in the initiation and development of adaptive immune related disorders
  • SPNS2 is indispensable for normal retinal morphogenesis
  • S1P transporter, promoting microglia pro-inflammatory activation
  • SPNS2 activates microglia inflammation through, at least partially, NF&
  • 954;B pathway
  • SPNS2 promotes likely pro-inflammatory polarization of microglia and may play a crucial role in Alzheimer disease pathogenesis
  • SPNS2 transporter contributes to the accumulation of S1P in Cystic Fibrosis human bronchial epithelial cells
  • role of SPNS2 in corneal and Meibomian gland morphogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • MFSD2A and SPNS2 form a protein complex to ensure the efficient transport of S1P
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • LAPAS1 predominantly functions in trans to repress expression of Sphingolipid Transporter 2 (SPNS2)
  • LAPAS1 has a potential role in human cancer and regulates cell proliferation and cell-cycle progression, at least in part, via regulation of SPNS2
  • both SPNS2 and LAPAS1, which negatively regulates SPNS2, are E2F targets
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB115
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    its down-regulation is a potential risk factor for Lung cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    immunologyimmunodeficiency 
    may be an attractive target for immune suppressive drugs
    ANIMAL & CELL MODELS
  • in zebrafish, Spns2 functioning as an S1P transporter regulates the migration of cardiac progenitors
  • Spns2-deficient mice have a redistribution of lymphocytes from the spleen to lymph nodes and a loss of circulating lymphocytes