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FLASH GENE
Symbol STOML2 contributors: mct/pgu - updated : 23-02-2013
HGNC name stomatin (EPB72)-like 2
HGNC id 14559
Location 9p13.3      Physical location : 35.099.892 - 35.103.154
Synonym name
  • stomatin-like protein 2
  • EPB72-like 2
  • Synonym symbol(s) HUSLP2, SLP2, HSPC108, SLP-2
    DNA
    TYPE functioning gene
    STRUCTURE 3.26 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 1303 - 356 - 2001 11435687
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveintestinesmall intestine  highly
    Endocrinepancreas   highly
    Reproductivefemale systembreastmammary gland highly
    Skin/Tegumentskin   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerthrocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • lacking the N terminal hydrophobic domain of stomatin
  • bipartite region containing beta sheet and alpha helix structure, a domain similar to a 172 AA region of the HSA stomatin polypeptide and mostly alpha helical C terminal domain
  • HOMOLOGY
    Homologene
    FAMILY
  • stomatin superfamily
  • band 7/mec-2 family
  • CATEGORY regulatory , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytoskeleton
    text
  • associated with the inner mitochondrial membrane and faces the intermembrane space
  • strongly associated with the mitochondrial inner membrane
  • basic FUNCTION
  • maybe involved in regulating ion channel conductance or the organization of sphyngolipid and cholesterol rich microdomains (rafts)
  • imported into mitochondria in a membrane potential-dependent manner and that the import is accompanied by proteolytic processing
  • mitochondrial intermembrane space/inner membrane-localized protein that forms a large hetero-oligomeric complex with MFN2
  • plays a role in regulating the stability of mitochondrial proteins including prohibitins and subunits of respiratory chain complexes
  • is required for stress-induced mitochondrial hyperfusion
  • with STOML1 may form part of a docking complex, capturing secretory lysosomes at the immunological synapse
  • late endosomal protein, contributing to secretory lysosome exocytosis from cytotoxic T lymphocytes
  • important player in T cell activation by ensuring sustained TCR signaling, which is required for full effector T cell differentiation
  • its function is potentially to recruit prohibitins to cardiolipin to form cardiolipin-enriched microdomains in which electron transport complexes are optimally assembled
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    text ion channel conductance
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MFN2 (may interact with the intermembrane space loop of MFN2)
  • interacts with prohibitins
  • interacts with prohibitin-1 and -2 and binds to the mitochondrial membrane phospholipid cardiolipin
  • cell & other
  • the peripheral erythrocyte cytoskeleton and probably other integral membrane proteins
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • serum anti-TPM3, anti-TMOD3, anti-STOML2 could be new markers for the early diagnosis of endometriosis
  • Therapy target
    ANIMAL & CELL MODELS