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    MEFV MEFV innate immuity regulator, pyrin [ Homo sapiens (human) ]

    Gene ID: 4210, updated on 26-Jul-2021

    Summary

    Official Symbol
    MEFVprovided by HGNC
    Official Full Name
    MEFV innate immuity regulator, pyrinprovided by HGNC
    Primary source
    HGNC:HGNC:6998
    See related
    Ensembl:ENSG00000103313 MIM:608107
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FMF; MEF; PAAND; TRIM20
    Summary
    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]
    Expression
    Biased expression in appendix (RPKM 3.9), spleen (RPKM 3.2) and 11 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MEFV in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (3242027..3256776, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (3292027..3306633, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 1 subfamily F member 2 pseudogene Neighboring gene zinc finger protein 200 Neighboring gene long intergenic non-protein coding RNA 921 Neighboring gene zinc finger protein 263 Neighboring gene tigger transposable element derived 7

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2018-08-16)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2018-08-16)

    ClinGen Genome Curation Page

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC126560, MGC126586

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables zinc ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of NLRP3 inflammasome complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cytokine production involved in inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of interleukin-1 beta production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of interleukin-12 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of macrophage inflammatory protein 1 alpha production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of autophagy IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cysteine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in pyroptosome complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of gene expression IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of interleukin-1 beta production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to interferon-gamma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in autophagosome IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in lamellipodium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    part_of microtubule associated complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ruffle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    pyrin
    Names
    MEFV, pyrin innate immunity regulator
    Mediterranean fever
    marenostrin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007871.1 RefSeqGene

      Range
      5001..19600
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_190

    mRNA and Protein(s)

    1. NM_000243.3NP_000234.1  pyrin isoform 1

      See identical proteins and their annotated locations for NP_000234.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF018080, AJ003147, AK298660
      Consensus CDS
      CCDS10498.1
      UniProtKB/Swiss-Prot
      O15553
      Related
      ENSP00000219596.1, ENST00000219596.6
      Conserved Domains (4) summary
      smart00336
      Location:370412
      BBOX; B-Box-type zinc finger
      cd08321
      Location:688
      Pyrin_ASC-like; Pyrin Death Domain found in ASC
      pfam15186
      Location:402464
      TEX13; Testis-expressed sequence 13 protein family
      cd15813
      Location:590773
      SPRY_PRY_TRIM20; PRY/SPRY domain in tripartite motif-binding protein 20 (TRIM20), also known as pyrin
    2. NM_001198536.2NP_001185465.2  pyrin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon and uses an alternate splice junction at the 5' end of an exon, that causes a frameshift. The resulting isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AF018080, AJ003147, FJ785722, Y14441
      Consensus CDS
      CCDS55981.1
      Related
      ENSP00000438711.1, ENST00000541159.5
      Conserved Domains (2) summary
      cd08321
      Location:688
      Pyrin_ASC-like; Pyrin Death Domain found in ASC
      cl00034
      Location:162201
      Bbox_SF; B-box-type zinc finger superfamily

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      3242027..3256776 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023236.2XP_016878725.1  pyrin isoform X1

    RNA

    1. XR_001751903.1 RNA Sequence

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