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FLASH GENE
Symbol SERPINB7 contributors: mct/npt/pgu - updated : 14-12-2013
HGNC name serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7
HGNC id 13902
Corresponding disease
NPPK Nagashima-type" palmoplantar keratosis
Location 18q21.33      Physical location : 61.420.276 - 61.472.603
Genatlas name MEGSIN
Synonym name
  • megsin,expressed in the glomerulus of kidney
  • mesangium predominant gene
  • Synonym symbol(s) MEGSIN, SPB7, DKFZp686D06190, MGC120014, MGC120015, TP55
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text cluster of clade-B serpin genes
    STRUCTURE 52.33 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - SERPINB5 - SERPINB4 - SERPINB3 - SERPINB7 - SERPINB2 - SERPINB10 - SERPINB8 - PI8L2 - qter
    Authors Scott(99)
    Physical map
    PLEKHE1 18q21.32 pleckstrin homology domain containing, family E (with leucine rich repeats) member 1 BCL2 18q21.33 B-cell CLL/lymphoma 2 FVT1 18q21 follicular lymphoma variant translocation 1 VPS4B 18q21.32-q21.33 vacuolar protein sorting 4B (yeast) SERPINB5 18q21.3 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5 SERPINB12 18q21 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12 SERPINB13 18q21.3 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13 SERPINB4 18q21.3 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4 SERPINB3 18q21.3 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3 SERPINB11 18q21.33 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11 SERPINB7 18q21.3 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7 SERPINB2 18q21.32-q21.33 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2 SERPINB10 18q21.3 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10 LOC284293 18q22.1 similar to Placental thrombin inhibitor (Cytoplasmic antiproteinase) (CAP) (Protease inhibitor 6) (PI-6) SERPINB8 18q21.3 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8 MGC39571 18q22.1 hypothetical protein MGC39571
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1973 - 380 - 2013 24207119
    8 - 2235 - 380 - 2013 24207119
    7 - 2193 - 363 - 2013 24207119
    8 - 1951 - 380 - 2013 24207119
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Skin/Tegumentskin     Mus musculus
     skinpalmoplantar    Homo sapiens
    Urinarykidneynephronrenal capsuleglomerulus  Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningepidermisstratum granulosum  Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentkeratinocyte Mus musculus
    Urinarymesangial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • reactive site loop characteristic of inhibitory serpins
  • HOMOLOGY
    interspecies homolog to murine Serpinb7
    Homologene
    FAMILY
  • serine protease inhibitor superfamily
  • Ov-serpin subfamily
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • influencing the maturation of megakaryocytes via its action as a serpin
  • functional modulator of mesangial functions in situ
  • potentially inhibits total enzymatic activities of MMP2 MMP9 and plasmin, indicating decreased degradation of mesangial matrix
  • mesangial cell-predominant gene
  • might inhibit mechanical stress-induced proteases and protect keratinocytes or corneocytes from protease-mediated cellular damage
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NPPK
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    upregulated in IgA nephropathy
    constitutional     --over  
    in diabetic nephropathy (mesangial matrix accumulation caused by hyperglycemia in diabetes might be due at least in part to up-regulation of megsin which can inhibit plasmin and MMP activities)
    tumoral     --low  
    in oral squamous cell carcinomas
    constitutional     --over  
    associated with mesangial cell (MC) proliferation and extracellular matrix (ECM) accumulation
    Susceptibility
  • to IgA nephropathy (IGAN)
  • to poor renal survival in IgA nephropathy (IGAN)
  • Variant & Polymorphism SNP
  • 2093C and 2180T alleles at the 3' untranslated region (3prime UTR) of the gene are associated with susceptibility to IgAN
  • 2093T-2180C haplotype at the 3 prime UTR of megsin gene is associated with rapid disease progression in Korean IgAN patients
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    diabete  
    may serve as a novel therapeutic target in the management of diabetic nephropathy
    ANIMAL & CELL MODELS