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FLASH GENE
Symbol SERPINE2 contributors: mct/npt - updated : 10-04-2010
HGNC name serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2
HGNC id 8951
Location 2q36.1      Physical location : 224.839.764 - 224.904.036
Synonym name
  • serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2
  • protease inhibitor 7
  • protease nexin I
  • glia-derived nexin
  • Synonym symbol(s) PI7, GDN, PN1, PNI
    DNA
    TYPE functioning gene
    STRUCTURE 64.27 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    EPHA4 2q36.1 EphA4 LOC130600 2q36.1 similar to ribosomal protein L23 LOC266724 2q36.3 heat shock 70kDa protein 9B pseudogene PAX3 2q36.1-q36.2 paired box gene 3 (Waardenburg syndrome 1) FLJ32447 2q36.1 hypothetical protein FLJ32447 SGPP2 2q36.3 sphingosine-1-phosphate phosphotase 2 FARSLB 2q36.1-q36.2 phenylalanine-tRNA synthetase-like, beta subunit DGAT2L1 2q36.3 diacylglycerol O-acyltransferase 2 like 1 LOC391486 2 similar to ribosomal protein L31 FACL3 2q34 fatty-acid-Coenzyme A ligase, long-chain 3 KCNE4 2q36.3 potassium voltage-gated channel, Isk-related family, member 4 SCG2 2q35-q36 secretogranin II (chromogranin C) LOC391487 2 similar to transcription factor-like protein 4 isoform beta; MAX-like bHLHZIP protein; MAX-like protein X; BigMax protein AP1S3 2q36.3 adaptor-related protein complex 1, sigma 3 subunit WDFY1 2q36.2 WD repeat and FYVE domain containing 1 MRPL44 2q36.3 mitochondrial ribosomal protein L44 SERPINE2 2q33-q35 serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 LOC391488 2 similar to Ubiquitin carboxyl-terminal hydrolase 21 (Ubiquitin thiolesterase 21) (Ubiquitin-specific processing protease 21) (Deubiquitinating enzyme 21) (NEDD8-specific protease) FLJ22746 2q36.3 hypothetical protein FLJ22746 CUL3 2q36.3 cullin 3 DOCK10 2q24.1-q36.3 dedicator of cytokinesis 10 KIAA1486 2q36.3 KIAA1486 protein IRS1 2q36 insulin receptor substrate 1 DKFZp547E052 2q36.3 hypothetical protein DKFZp547E052 COL4A4 2q35-q37.1 collagen, type IV, alpha 4 COL4A3 2q37.1 collagen, type IV, alpha 3 (Goodpasture antigen) LOC389077 2 LOC389077 GL004 2q37.1 LOC389077 FLJ22800 2q36.3 hypothetical protein FLJ22800 HRB 2q36 HIV-1 Rev binding protein DKFZp547H025 2q36.3 hypothetical protein DKFZp547H025 LOC389078 2 hypothetical gene supported by AK125767 SLC19A3 2q37 solute carrier family 19, member 3 CCL20 2q35-q36 chemokine (C-C motif) ligand 20
    RNA
    TRANSCRIPTS type messenger
    text variants 2 and 3 encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2259 41.9 398 - Carter (1995)
    9 - 2186 42 409 - Carter (1995)
    10 - 2674 41.9 397 - Carter (1995)
    9 - 2256 41.9 397 - Carter (1995)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunethymus   highly
    Nervousbrain   highly
    Reproductivefemale systemplacenta  highly
    Skin/Tegumentskin   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Connectivebone  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 28 amino acids at the N-terminus identical to the N-terminal amino acid sequence of a glial-derived neurite promoting factor
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • serpin family
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane,junction
    text neuromuscular junctions
    basic FUNCTION
  • serine proteinase inhibitor, promoting neurite outgrowth
  • regulator of alpha-thrombin
  • may play a much larger role in the modeling and remodeling of brain tissues during development
  • potent urinary plasminogen activator inhibitor in the presence of collagen type IV and may play a much larger role in the modeling and remodeling of brain tissues during development (Crisp 2002)
  • possible promoter of testicular germ cell tumors lymph node metastasis (Nagahara 2010)
  • inhibits FURIN, a serine protease that activates MMP17 involved in the shedding of endothelial PROCR, suggesting a direct interaction between SERPINE2 and FURIN in endothelial cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS reproduction/sex
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in pancreatic carcinoma
    constitutional     --low  
    significantly decreased in HELLP placentas
    tumoral     --over  
    in pancreatic and mammary cancer cell-lines with a high metastatic potential, compared with those in a rarely metastatic cell-line (Nagahara 2010)
    Susceptibility to chronic obstructive pulmonary disease
    Variant & Polymorphism SNP
  • a SNP increasing the risk of chronic obstructive pulmonary disease, likely influenced by gene-by-smoking interaction
  • Six SNPs demonstrated significant associations with COPD phenotypes in the family-based association analysis (Zhu 2007)
  • Candidate gene potential biomarker that might be tested clinically
    in patients for early diagnosis of HELLP syndrome Kang 2008)
    Marker
    Therapy target
  • secreted protein, that could be a new target for the therapy against human testicular germ cell tumor (Nagahara 2010)
  • ANIMAL & CELL MODELS