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FLASH GENE
Symbol MEFV contributors: mct/npt - updated : 11-07-2018
HGNC name Mediterranean fever
HGNC id 6998
Corresponding disease
Location 16p13.3      Physical location : 3.292.027 - 3.306.627
Synonym name
  • marenostrin
  • pyrin
  • Synonym symbol(s) MRST, MEF, FMF, TRIM20
    DNA
    TYPE virus associated
    STRUCTURE 14.60 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Map pter - HBAP1 - D16S283 - D16S94 - D16S291 - D16S3024 ,D16S246 ,D16S3124 - D16S3134 ,D16S3084 - D16S468 /D16S3070 - MMP25 - D16S3082 - [ZNF205 - ZNF213 - D16S3408 - D16S3405 - D16S3404 - D16S3370 - ZNF206 - D16S2617 - OR1F1 ] - OR1F2P - ZNF200 - MEFV - D16S3373 -D16S3275 - D16S3376 - ZNF174 - D16S475 - D16S3382 - DNASE1 - D16S2622 - RSTS - D16S3388 - D16S523 - D16S510 ,D16S423 - D16S2616 - cen
    Authors Akarsu (97), French FMF consortium (97), International FMF Consortium (97), Balow (97), Bernot (98), Deng (98), Centola (98)
    Text [TRKPR@ ]
    Physical map
    LOC114984 16p13.3 hypothetical protein BC014089 DKFZp761A132 16p13.3 hypothetical protein DKFZp761A132 FLJ30002 16p13.3 hypothetical protein FLJ30002 KREMEN2 16p13.3 kringle containing transmembrane protein 2 PKMYT1 16p13.3 kringle containing transmembrane protein 2 LOC388205 16 similar to RIKEN cDNA 1520401A03 gene LOC388206 16 LOC388206 CLDN9 16p13.3 claudin 9 CLDN6 16p13.3 claudin 6 TNFRSF12A 16p13.3 tumor necrosis factor receptor superfamily, member 12A HCFC1R1 16p13.3 host cell factor C1 regulator 1 (XPO1 dependant) MGC2655 16p13.3 hypothetical protein MGC2655 LOC146439 16p13.3 similar to CDNA sequence BC038613 MMP25 16p13.3 matrix metalloproteinase 25 MMPL1 16p13.3 matrix metalloproteinase-like 1 NK4 16p13.3 matrix metalloproteinase-like 1 ZNF206 16p13.3 zinc finger protein 206 MGC3771 16p13.3 hypothetical protein MGC3771 ZNF205 16p13.3 zinc finger protein 205 ZNF213 16p13.3 zinc finger protein 213 LOC197350 16p13.3 hypothetical protein LOC197350 OR1F1 16p13.3 olfactory receptor, family 1, subfamily F, member 1 OR1F2 16p13.3 olfactory receptor, family 1, subfamily F, member 2 ZNF200 16p13.3 zinc finger protein 200 MEFV 16p13.3 Mediterranean fever FLJ39639 16p13.3 hypothetical protein FLJ39639 ZNF263 16p13.3 zinc finger protein 263 TIGD7 16p13.11 tigger transposable element derived 7 ZNF75A 16p13.11 zinc finger protein 75a LOC390670 16 similar to ribosomal protein L7-like 1 OR2C1 16p13.3 olfactory receptor, family 2, subfamily C, member 1 ZNF434 16p13.3 zinc finger protein 434 ZNF174 16p13.3 zinc finger protein 174 FLJ33071 16p13.3 hypothetical protein FLJ33071 LOC388207 16 LOC388207
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 3507 86.4 781 cytoplasmic Papin, Bernot (1998)
    - splicing 1700 63 570 leukocytes Papin (2000)
    also called MEFV-dr
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticgranulocyte
    cell lineage myeloid precursors
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal RING zinc finger domain (PYRIN domain )
  • followed by one B box and an alpha-helical coiled-coil domain,
  • the so-called tripartite motif (TRIM) characteristic of the B box family of proteins and mediating the formation of multimeric protein complexes
  • one DAPIN domain
  • and a B30.2-like (RFP) globular domain at the C terminus
  • a PRYSPRY domain mediating diverse functions by high-affinity binding to their target through a canonical binding interface formed by six antibody-like VLs
  • HOMOLOGY
    interspecies homolog to murine Mefv
    intraspecies homolog to Ro autoantigen ret finger proteins and butyrophilin (belonging to B boxfamily)
    Homologene
    FAMILY B box family, RBCC (TRIM family)
    CATEGORY immunity/defense
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus
    basic FUNCTION
  • playing a role of inflammatory response and involved in protein-protein interactions
  • probably controls the inflammatory response in myelomonocytic cells at the level of the cytoskeleton
  • organization
  • thought to be involved in regulating innate immunity (Grandemange 2009)
  • modulates the apoptotic response to oxidative stress mediated by SIVA1 (Balci-Peynircioglu 2008)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PSTPIP1 (binding correlated with PSTPIP1 phosphorylation status)
  • also interacts with SIVA1, a pro-apoptotic protein first identified for its interaction with the cytosolic tail of CD27, a TNF family receptor (interaction involves the C-terminal B30.2/rfp/SRPY domain of pyrin and exon 1 of SIVA1) (Balci-Peynircioglu 2008)
  • MEFV and TRIM21 directly bind their respective cargo and recruit autophagic machinery to execute degradation, and MEFV targets the inflammasome components, including NLRP3, NLRP1, and pro-caspase 1, for autophagic degradation
  • cell & other
    REGULATION
    Other first auto-inflammatory gene regulated by nonsense-mediated decay (NMD) pathways in both a cell- and transcript-specific manner (Grandemange 2009)
    ASSOCIATED DISORDERS
    corresponding disease(s) MEFV
    related resource INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations
    Familial Mediterranean Fever at GeneDis
    Susceptibility
  • to Behcet's disease
  • to Fibromyalgia syndrome (FMS)
  • to systemic onset juvenile idiopathic arthritis
  • Variant & Polymorphism other
  • increasing the risk of Behcet's disease
  • heterozygous for rare missense variants of this gene may be predisposed to FMS, possibly triggered by environmental factors (Feng 2009)
  • a significantly higher frequency of MEFV mutations systemic onset juvenile idiopathic arthritis (Ayaz 2009)
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    immunology  
    the SIVA1-MEFV interaction may be a potential target for future therapeutic strategies
    ANIMAL & CELL MODELS