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FLASH GENE
Symbol MBTPS2 contributors: mct/npt - updated : 18-11-2019
HGNC name membrane-bound transcription factor peptidase, site 2
HGNC id 15455
Corresponding disease
IFAP ichthyosis follicularis with atrichia and photophobia
OIXIX osteogenesis imperfecta, type XIX
OLMSX Olmsted syndrome, X-linked
Location Xp22.12      Physical location : 21.857.655 - 21.903.540
Synonym name
  • membrane-bound transcription factor protease, site 2
  • site-2 protease
  • S2P endopeptidase
  • sterol regulatory element-binding proteins intramembrane protease
  • Synonym symbol(s) S2P, FLJ32174, KFSD, OI19, KFSDX, OLMSX, BRESEK
    EC.number 3.4.24.85
    DNA
    TYPE functioning gene
    STRUCTURE 45.81 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - DXS8248 - DXS8250 - MBTPS2 - DXS8252 - DXS8260 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 4446 57.4 519 - 2019 30294811
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Nervousnerve   highly
    Respiratoryrespiratory tracttrachea  highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscular    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • containing a HEXXH sequence characteristic of Zn metallo protease
  • HOMOLOGY
    Homologene
    FAMILY
  • subtiliase (subtilisin-like serine proteases) family
  • HEXXH-containing zinc endopeptidases family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text integral membrane protein polytopic
    basic FUNCTION
  • required for intramembrane proteolysis of sterol regulatory element-binding proteins in response to cholesterol deprivation
  • membrane-embedded zinc metalloprotease that activates signaling proteins involved in sterol control of transcription and ER stress response (Oeffner 2009)
  • CELLULAR PROCESS protein, degradation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • processing ATF6 with transfer of its cytoplasmic domain to the nucleus
  • TRPV3 regulatory region is a target for MBTPS2
  • MBTPS2 and SREBF1 and SREBF2 were known to be important players in the same pathway
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IFAP , OLMSX , OIXIX
    Susceptibility to variation of plasma high-density lipoprotein cholesterol concentrations
    Variant & Polymorphism SNP influence plasma high-density lipoprotein cholesterol concentrations (Lu 2008)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS