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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:3525082-3535961 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 2.18 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    200 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1859396
 protein coding gene Chr16:3524838-3536073 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022448
 protein coding gene Chr16:149782-161881 (-)
A/J MGP_AJ_G0022409
 protein coding gene Chr16:33785-44484 (-)
AKR/J MGP_AKRJ_G0022386
 protein coding gene Chr16:155486-166395 (-)
BALB/cJ MGP_BALBcJ_G0022414
 protein coding gene Chr16:146132-157041 (-)
C3H/HeJ MGP_C3HHeJ_G0022181
 protein coding gene Chr16:199778-210687 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022863
 protein coding gene Chr16:198069-208917 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020385
 protein coding gene Chr16:837-11921 (-)
CAST/EiJ MGP_CASTEiJ_G0021708
 protein coding gene Chr16:155426-169021 (-)
CBA/J MGP_CBAJ_G0022150
 protein coding gene Chr16:235141-246050 (-)
DBA/2J MGP_DBA2J_G0022281
 protein coding gene Chr16:136680-148636 (-)
FVB/NJ MGP_FVBNJ_G0022257
 protein coding gene Chr16:118930-129839 (-)
LP/J MGP_LPJ_G0022350
 protein coding gene Chr16:175297-186172 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022279
 protein coding gene Chr16:129127-142487 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022875
 protein coding gene Chr16:133741-144650 (-)
PWK/PhJ MGP_PWKPhJ_G0021448
 protein coding gene Chr16:179856-190545 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021279
 protein coding gene Chr16:231792-242692 (-)
WSB/EiJ MGP_WSBEiJ_G0021757
 protein coding gene Chr16:164780-176565 (-)



Homology
more
  • Human Ortholog
    MEFV, MEFV innate immunity regulator, pyrin
  • Vertebrate Orthologs
    8
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MEFV, MEFV innate immunity regulator, pyrin
  • Synonyms
    FMF, MEF, PAAND, TRIM20
  • Links
    NCBI Gene ID: 4210
    neXtProt AC: NX_O15553
    UniProt: O15553

  • Chr Location
    16p13.3; chr16:3242027-3256633 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Mefv mouse models; 9 with human MEFV associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
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
less
  • Phenotype Summary
    9 phenotypes from 4 alleles in 4 genetic backgrounds
    45 phenotypes from multigenic genotypes
    25 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
less
  • All GO Annotations
    49
  • GO References
    10
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    744
  • Tissues
    17
  • cDNA Data
    4
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 6
      Genomic 2
      cDNA 4

      Microarray probesets 2
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 2
      Diseases 2
      Gene Ontology 10
      Phenotypes 25
    • 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:345401 Liu C, et al., Alpha-linolenic acid pretreatment alleviates NETs-induced alveolar macrophage pyroptosis by inhibiting pyrin inflammasome activation in a mouse model of sepsis-induced ALI/ARDS. Front Immunol. 2023;14:1146612
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory