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MEFV Gene

protein-coding   GIFtS: 62
GCID: GC16M003295

Mediterranean Fever


(Previous symbol: MEF)
  See MEFV-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Mediterranean Fever1 2     TRIM202
MEF1 2 3 5     marenostrin2
pyrin1 2     Marenostrin3
FMF2 5     

External Ids:    HGNC: 69981   Entrez Gene: 42102   Ensembl: ENSG000001033137   OMIM: 6081075   UniProtKB: O155533   

Export aliases for MEFV gene to outside databases

Previous GC identifers: GC16M003312 GC16M003293 GC16M003294 GC16M003232


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MEFV Gene:
This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate
immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome.
(provided by RefSeq, Jul 2008)

GeneCards Summary for MEFV Gene:
MEFV (Mediterranean fever) is a protein-coding gene. Diseases associated with MEFV include familial mediterranean fever, and psoriatic juvenile idiopathic arthritis. GO annotations related to this gene include actin binding. An important paralog of this gene is TRIML2.

UniProtKB/Swiss-Prot: MEFV_HUMAN, O15553
Function: Probably controls the inflammatory response in myelomonocytic cells at the level of the cytoskeleton
organization

Gene Wiki entry for MEFV Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_010393.17  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MEFV gene promoter:
         AML1a   AP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMEFV promoter sequence
   Search Chromatin IP Primers for MEFV

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MEFV


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

MEFV Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MEFV gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M003295:  view genomic region     (about GC identifiers)

Start:
3,292,028 bp from pter      End:
3,306,627 bp from pter
Size:
14,600 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MEFV_HUMAN, O15553 (See protein sequence)
Recommended Name: Pyrin  
Size: 781 amino acids; 86444 Da
Subunit: Interacts with PSTPIP1
Developmental stage: First detected in bone marrow promyelocytes. Expression increases throughout myelocyte
differentiation and peaks in the mature myelomonocytic cells
1 PDB 3D structure from and Proteopedia for MEFV:
2WL1 (3D)    
Secondary accessions: D3DUC0 F5H0Q3 Q3MJ84 Q96PN4 Q96PN5
Alternative splicing: 3 isoforms:  O15553-2   O15553-1   O15553-3   

Explore the universe of human proteins at neXtProt for MEFV: NX_O15553

Explore proteomics data for MEFV at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MEFV Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000234.1  NP_001185465.1  

    ENSEMBL proteins: 
     ENSP00000219596   ENSP00000339639   ENSP00000438611   ENSP00000444615   ENSP00000444178  
     ENSP00000437486   ENSP00000438711   ENSP00000444471   ENSP00000445079   ENSP00000458312  
     ENSP00000461186   ENSP00000460551   ENSP00000460269  
    Reactome Protein details: O15553

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    Cloud-Clone Corp. Proteins for MEFV

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TRIM: Tripartite motif containing / Tripartite motif containing

    Selected InterPro protein domains (see all 10):
     IPR001870 B30.2/SPRY
     IPR011029 DEATH-like_dom
     IPR003879 Butyrophylin
     IPR006574 PRY
     IPR028841 Pyrin

    Graphical View of Domain Structure for InterPro Entry O15553

    ProtoNet protein and cluster: O15553

    4 Blocks protein domains:
    IPB000315 B-box zinc finger signature
    IPB003879 Butyrophylin C-terminal DUF signature
    IPB004020 Pyrin domain
    IPB006574 SPRY-associated domain


    UniProtKB/Swiss-Prot: MEFV_HUMAN, O15553
    Similarity: Contains 1 B box-type zinc finger
    Similarity: Contains 1 B30.2/SPRY domain
    Similarity: Contains 1 DAPIN domain


    Find genes that share domains with MEFV           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MEFV_HUMAN, O15553
    Function: Probably controls the inflammatory response in myelomonocytic cells at the level of the cytoskeleton
    organization
    Induction: In monocytes, by treatment with colchicine and IFN-alpha, and by the proinflammatory cytokines
    IFNG/IFN-gamma, TNF and bacterial lipopolysaccharides (LPS). Repressed in monocytes by the antiinflammatory
    cytokines IL10/interleukin-10, TGFB1 and IL4/interleukin-4. In neutrophils, colchicine, TNF, bacterial
    lipopolysaccharides (LPS), IL10/interleukin-10, INF-alpha and IL4/interleukin-4 have no effect on expression.
    IFNG/IFN-gamma increases expression in neutrophils

         Genatlas biochemistry entry for MEFV:
    nuclear factor,marenostrin (pyrin),almost exclusively expressed in granulocytes,related to the Ro autoantigen and
    ret finger proteins and to butyrophilin,mutated in Mediterranean fever (MEFV)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IDA11468188
    GO:0005515protein binding ----
    GO:0008270zinc ion binding NAS11115844
         
    Find genes that share ontologies with MEFV           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MEFV:
     Decreased viability after Chla 

         11 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Mefv):
     cellular  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     integument  liver/biliary system  mortality/aging  normal  reproductive system 
     skeleton 

    Find genes that share phenotypes with MEFV           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Mefvtm1Bhk for MEFV

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MEFV
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MEFV
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MEFV

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    4 qRT-PCR Assays for microRNAs that regulate MEFV:
    hsa-miR-576-5p hsa-miR-622 hsa-miR-412 hsa-miR-3147
    SwitchGear 3'UTR luciferase reporter plasmidMEFV 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat MEFV

    Gene Editing
    Products:
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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MEFV


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MEFV_HUMAN, O15553: Isoform 1: Cytoplasm, cytoskeleton. Note=Associated with microtubules and with the
    filamentous actin of perinuclear filaments and peripheral lamellar ruffles
    MEFV_HUMAN, O15553: Isoform 2: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol4
    extracellular1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA11115844
    GO:0005829cytosol TAS--
    GO:0005874microtubule IEA--
    GO:0005875microtubule associated complex IDA11468188

    Find genes that share ontologies with MEFV           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MEFV About    
    See pathways by source

    SuperPathContained pathways About
    1Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways0.68
    NOD pathway0.33
    NOD-like receptor signaling pathway0.37
    Inflammasomes0.00


    Find genes that share SuperPaths with MEFV           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MEFV
        NOD pathway

    1 Reactome Pathway for MEFV
        The NLRP3 inflammasome


    1 Kegg Pathway  (Kegg details for MEFV):
        NOD-like receptor signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MEFV: 
              Antiviral Response in human mouse rat
              Inflammasomes in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat
              Antibacterial Response in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MEFV

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    Selected Interacting proteins for MEFV (O155532, 3 ENSP000002195964) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PYCARDQ9ULZ32, 3, ENSP000002474704MINT-15557 MINT-15559 MINT-15558 I2D: score=4 STRING: ENSP00000247470
    YWHAQP273482, 3, ENSP000002380814MINT-8007132 MINT-8007125 I2D: score=1 STRING: ENSP00000238081
    COG5Q9UP833, ENSP000002971354I2D: score=2 STRING: ENSP00000297135
    PSTPIP1O435863, ENSP000003689144I2D: score=2 STRING: ENSP00000368914
    CASP1P294663I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006954inflammatory response IDA11468188
    GO:0032691negative regulation of interleukin-1 beta production IMP--
    GO:0032695negative regulation of interleukin-12 production IMP--
    GO:0035872nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway TAS--
    GO:0045087innate immune response TAS--

    Find genes that share ontologies with MEFV           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MEFV

    8 Novoseek inferred chemical compound relationships for MEFV gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    colchicine 87.5 20 11802319 (5), 14978665 (1), 20051664 (1), 19534089 (1) (see all 14)
    mnda 63.4 1 16651415 (1)
    mevalonate 46.1 1 16466630 (1)
    leucine 11.6 5 15892040 (1), 15999810 (1), 18648497 (1), 12759408 (1) (see all 5)
    tyrosine 3.57 3 14595024 (2), 16724804 (1)
    endotoxin 0 2 12667444 (1), 17617620 (1)
    isoleucine 0 2 15231984 (1), 12924509 (1)
    methionine 0 2 10787449 (1), 12924509 (1)



    Find genes that share compounds with MEFV           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MEFV gene (2 alternative transcripts): 
    NM_000243.2  NM_001198536.1  

    Unigene Cluster for MEFV:

    Mediterranean fever
    Hs.632221  [show with all ESTs]
    Unigene Representative Sequence: AF018080
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000219596(uc002cun.1 uc021tca.1) ENST00000339854(uc021tbw.1 uc021tbx.1 uc021tby.1 uc021tbz.1 uc021tcb.1)
    ENST00000537682 ENST00000542898 ENST00000536980 ENST00000538326 ENST00000541159
    ENST00000539145 ENST00000536379 ENST00000570511 ENST00000572244 ENST00000576315
    ENST00000574583 ENST00000539154
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    4 qRT-PCR Assays for microRNAs that regulate MEFV:
    hsa-miR-576-5p hsa-miR-622 hsa-miR-412 hsa-miR-3147
    SwitchGear 3'UTR luciferase reporter plasmidMEFV 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): MEFV (NM_001198536)
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      QuantiFast Probe-based Assays in human, mouse, rat MEFV

    Additional mRNA sequence: 

    AF018080.1 BC101511.1 BC101537.1 FJ785717.1 FJ785718.1 FJ785719.1 FJ785720.1 FJ785721.1 
    FJ785722.1 Y14441.1 

    1 DOTS entry:

    DT.103777 

    7 AceView cDNA sequences:

    AF018080 BI907993 CD639999 NM_000243 AW440869 Y14441 BI024282 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MEFV expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATAAAAAAA
    MEFV Expression
    About this image

    MEFV Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MEFV Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632221

    UniProtKB/Swiss-Prot: MEFV_HUMAN, O15553
    Tissue specificity: Expressed in peripheral blood leukocytes, particularly in mature granulocytes and to a lesser
    extent in monocytes but not in lymphocytes. Detected in spleen, lung and muscle, probably as a result of
    leukocyte infiltration in these tissues. Not expressed in thymus, prostate, testis, ovary, small intestine,
    colon, heart, brain, placenta, liver, kidney, pancreas. Expression detected in several myeloid leukemic, colon
    cancer, and prostate cancer cell lines

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MEFV: 
              Antiviral Response in human mouse rat
              Inflammasomes in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat
              Antibacterial Response in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MEFV
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MEFV

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MEFV gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mefv1 , 5 Mediterranean fever1, 5 66.5(n)1
    54.53(a)1
      16 (2.18 cM)5
    544831  NM_001161791.11  NP_001155263.11 
     37072155 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    28(a)
    many ↔ many
    2(195082682-195099717)


    ENSEMBL Gene Tree for MEFV (if available)
    TreeFam Gene Tree for MEFV (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MEFV gene
    TRIML22  RFPL12  RFPL4AL12  RFPL32  RFPL4A2  RFPL22  RFPL4B2  
    Selected SIMAP similar genes for MEFV using alignment to 13 protein entries:     MEFV_HUMAN (see all proteins) (see all similar genes):
    FAM3A    CTSS    LINC00596    TMEM14B    TSEN2    UTY
    AURA2    ZNF737    CHID1    FKBP3    NF2    QRICH2
    ZNF212    ZNF547    FAM175A    ZNF564    SHANK2    ZNF738

    Find genes that share paralogs with MEFV           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MEFV (see all 742)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289405791,2,,4
    C,FFamilial Mediterranean fever, autosomal recessive (ARFMF)4 pathogenic13229118(-) CAGAGT/CTGGAA 3 /A /V mis1 ut31 ese33Minor allele frequency- C:0.00NS NA EU 5953
    rs1048950941,2,,4
    C,FFamilial Mediterranean fever, autosomal recessive (ARFMF)4 pathogenic13229211(-) GATGAA/G/TGGAAA 5 K R M mis1 ut312NA EU 5875
    rs289405781,2,,4
    CFamilial Mediterranean fever, autosomal recessive (ARFMF)4 pathogenic13229213(-) ATGATA/GAAGGA 3 I M mis1 ut310--------
    rs289405801,2,,4
    CFamilial Mediterranean fever, autosomal recessive (ARFMF)4 pathogenic13229255(-) AACATA/C/GACTCT 5 I M mis1 ut31 ese30--------
    rs114660241,2,,4
    C,F,HFamilial Mediterranean fever, autosomal recessive (ARFMF)4 other13235276(-) CCACCG/AGGTGC 4 /Q /R mis1 ese312Minor allele frequency- A:0.01NA EU NS EA WA 6589
    rs114660231,2,,4
    C,F,HFamilial Mediterranean fever, autosomal recessive (ARFMF)4 other13235394(-) TAAGCC/TCCCAG 4 P S mis1 ese312Minor allele frequency- T:0.01NA EU NS EA WA 6539
    rs1048950811,2,,4
    CFamilial Mediterranean fever, autosomal recessive (ARFMF)4 pathogenic13240073(-) AAAGAC/TAGCTG 3 T I mis1 int11Minor allele frequency- T:0.00NA 4552
    rs1048950801,2,,4
    CFamilial Mediterranean fever, autosomal recessive (ARFMF)4 untested13240185(-) CCTTCA/GAAGTG 3 K E mis1 int10--------
    rs37439301,2,,4
    C,FFamilial Mediterranean fever, autosomal recessive (ARFMF)4 pathogenic13240431(-) AGCCCG/CAGGCC 3 /Q /E mis1 int1 ese35Minor allele frequency- C:0.06NA EU EA 577
    rs114660181,2,,4
    CFamilial Mediterranean fever, autosomal recessive (ARFMF)4 --3240544(-) CTCCCT/CGGGGG 3 /P /L mis1 int1 ese33Minor allele frequency- C:0.01NA EU 94

    HapMap Linkage Disequilibrium report for MEFV (3292028 - 3306627 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for MEFV:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509592CNV Insertion20534489
    dgv2583n71CNV Loss21882294
    nsv905208CNV Loss21882294
    nsv905209CNV Gain21882294
    nsv516280CNV Gain19592680
    nsv457355CNV Gain19166990
    nsv833127CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): MEFV
    Locus Specific Mutation Databases (LSDB): MEFV

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MEFV
    DNA2.0 Custom Variant and Variant Library Synthesis for MEFV

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 608107   
    OMIM disorders: 249100  134610  
    UniProtKB/Swiss-Prot: MEFV_HUMAN, O15553
  • Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]: A hereditary periodic fever
    syndrome characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or
    joints. It is frequently complicated by reactive amyloidosis, which leads to renal failure and can be
    prophylactically treated with colchicine. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Familial Mediterranean fever, autosomal dominant (ADFMF) [MIM:134610]: A hereditary periodic fever
    syndrome characterized by periodic fever, serosal inflammation and pain in the abdomen, chest or joints as seen
    also in the autosomal recessive form of the disease. It is associated with reactive renal amyloidosis and
    characterized by colchicine unresponsiveness. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for MEFV (see all 32):    
    About MalaCards
    familial mediterranean fever    psoriatic juvenile idiopathic arthritis    behcet's disease    familial mediterranean fever, ad
    palindromic rheumatism    brucellosis    idiopathic recurrent pericarditis    familial mediterranean fever, ar
    intermittent hydrarthrosis    hydrarthrosis    adult-onset still's disease    erysipelas
    pyoderma    relapsing fever    pyoderma gangrenosum    wells syndrome
    muckle-wells syndrome    blau syndrome    systemic onset juvenile idiopathic arthritis    septic arthritis

    9 diseases from the University of Copenhagen DISEASES database for MEFV:
    Familial Mediterranean fever     Brucellosis     Amyloidosis     Erysipelas
    Autosomal recessive disease     Arthritis     Peritonitis     Palindromic rheumatism
    Pyoderma gangrenosum

    Find genes that share disorders with MEFV           About GenesLikeMe

    Selected Novoseek inferred disease relationships for MEFV gene (see all 39)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    familial mediterranean fever 98.6 194 15020340 (2), 16614989 (2), 12695165 (2), 16245224 (2) (see all 99)
    serositis 93 4 11182028 (1), 19091621 (1), 19530512 (1), 17489852 (1)
    hereditary periodic fever syndromes 91.5 3 15071491 (1), 15243709 (1), 14679589 (1)
    muckle-wells syndrome 88.8 2 15071491 (1), 18172447 (1)
    cold hypersensitivity 87.9 3 12371636 (1)
    tumor necrosis factor receptor-associated periodic syndrome 87.2 4 15071491 (1), 15243709 (1), 16273767 (1), 20074469 (1)
    renal amyloidosis 87.1 7 17469185 (2), 12401847 (1), 15720244 (1), 16118480 (1) (see all 5)
    cinca syndrome 83.7 3 19804406 (1), 18172447 (1)
    amyloidosis 83.4 41 15071491 (4), 12687559 (4), 17102945 (3), 11156548 (2) (see all 19)
    brucellosis 81.8 40 16245224 (3), 14978665 (1), 19091621 (1), 15243709 (1) (see all 32)

    Genatlas disease: MEFV
    Mediterranean fever,excluding hyper-IgD and periodic fever syndrome,including late onset form,mild without
    amyloidosis or chronic arthritis

    GeneTests: MEFV
    GeneReviews: MEFV
    Genetic Association Database (GAD): MEFV
    Human Genome Epidemiology (HuGE) Navigator: MEFV (149 documents)

    Export disorders for MEFV gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for MEFV gene, integrated from 10 sources (see all 425):
    (articles sorted by number of sources associating them with MEFV)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Is the Ala138Gly alteration of MEFV gene important for amyloidosis? (PubMed id 11139244)1, 2, 4, 9 Akar E.... Akar N. (Hum. Mutat. 2001)
    2. Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease. (PubMed id 11470495)1, 2, 4, 9 Timmann C.... Horstmann R.D. (Mutat. Res. 2001)
    3. Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations. (PubMed id 16378925)1, 2, 4 Medlej-Hashim M....Megarbane A. (Eur. J. Med. Genet. 2005)
    4. A candidate gene for familial Mediterranean fever. (PubMed id 9288094)1, 2, 3 Bernot A.... Grateau G. (Nat. Genet. 1997)
    5. Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin. (PubMed id 10666224)1, 2, 9 Tidow N.... Koeffler H.P. (Blood 2000)
    6. The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. (PubMed id 10807793)1, 2, 9 Centola M.... Kastner D.L. (Blood 2000)
    7. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. (PubMed id 14595024)1, 2, 9 Shoham N.G....Kastner D.L. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    8. Reduced MEFV messenger RNA expression in patients with familial Mediterranean fever. (PubMed id 12384939)1, 2, 9 Notarnicola C....Touitou I. (Arthritis Rheum. 2002)
    9. Pyrin/marenostrin mutations in familial Mediterranean fever. (PubMed id 10024914)1, 2, 9 Booth D.R.... Hawkins P.N. (QJM 1998)
    10. Prevalence and significance of MEFV gene mutations in a cohort of patients with rheumatoid arthritis. (PubMed id 20031469)1, 4, 9 Koca S.S....Isik A. (Joint Bone Spine 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4210 HGNC: 6998 AceView: MEFV Ensembl:ENSG00000103313 euGenes: HUgn4210
    ECgene: MEFV Kegg: 4210 H-InvDB: MEFV

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MEFV Pharmacogenomics, SNPs, Pathways
    INFEVERShttp://fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=1
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MEFV[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MEFV gene:
    Search GeneIP for patents involving MEFV

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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