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Mefv Gene Detail
Summary
  • Symbol
    Mefv
  • Name
    Mediterranean fever
  • Synonyms
    FMF, marenostrin, pyrin, TRIM20
  • Feature Type
    protein coding gene
  • IDs
    MGI:1859396
    NCBI Gene: 54483
  • Gene Overview
    MyGene.info: MEFV
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr16:3707218-3718097 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      10880 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 2.18 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    MEFV, MEFV, pyrin innate immunity regulator
  • Vertebrate Orthologs
    7
  • Human Ortholog
    MEFV, MEFV, pyrin innate immunity regulator
    Orthology source: HomoloGene, HGNC
  • Synonyms
    FMF, MEF, TRIM20
  • Links
    NCBI Gene ID: 4210
    neXtProt AC: NX_O15553
    UniProt: O15553

  • Chr Location
    16p13.3; chr16:3242028-3256776 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Mefv mouse models; 1 with human MEFV associations

Human Disease Mouse Models
      
IDs
View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 4 alleles in 4 genetic backgrounds
    45 phenotypes from multigenic genotypes
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous null mice develop normally but show increased susceptibilty to infection. Mice homozygous for another knock-out allele exhibit increased macrophage secretion of IL1b and Il18 following stimulation.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000022534 Ensembl Gene Model | MGI Sequence Detail 10880 C57BL/6J ±  kb
    transcript ENSMUST00000100222 Ensembl | MGI Sequence Detail 2739 Not Applicable  
    polypeptide ENSMUSP00000097795 Ensembl | MGI Sequence Detail 808 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      51 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 6
      Genomic 2
      cDNA 4

      Microarray probesets 2
    References
    more
    • Summaries
      All 29
      Developmental Gene Expression 2
      Diseases 2
      Gene Ontology 4
      Phenotypes 9
    • Earliest
      J:62515 Chae JJ, et al., Isolation, genomic organization, and expression analysis of the mouse and rat homologs of MEFV, the gene for familial mediterranean fever. Mamm Genome. 2000 Jun;11(6):428-35
    • Latest
      J:262477 Karki R, et al., IRF8 Regulates Transcription of Naips for NLRC4 Inflammasome Activation. Cell. 2018 May 3;173(4):920-933.e13

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    07/31/2018
    MGI 6.12
    The Jackson Laboratory