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Mefv
Gene Detail
 Symbol
Name
ID
Mefv
Mediterranean fever
MGI:1859396
Synonyms FMF, marenostrin, pyrin, TRIM20
Feature Type protein coding gene
Genetic Map
Chromosome 16
2.18 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr16:3707215-3718124 bp, - strand
From NCBI annotation of GRCm38

  10910 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:32441  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog

Gene Tree: Mefv

Human
homologs
Human Homolog MEFV, Mediterranean fever
NCBI Gene ID 4210
neXtProt AC  NX_O15553
Human Synonyms  FMF, MEF, TRIM20
Human Chr (Location)  16p13.3; chr16:3242028-3256648 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human MEFV
Alleles
and
phenotypes
All alleles(8) : Targeted(8)
 
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.
 
Human Diseases Modeled Using Mouse Mefv (1)    Alleles Annotated to Human Diseases(4)   
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process inflammatory response, negative regulation of inflammatory response, ...
Component cytoplasm, cytoskeleton, ...
Function actin binding, metal ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (38)    Tissues (17)    Images (5)
Theiler Stages: 17, 18, 23
Assay TypeResults
RNA in situ 38
cDNA source data(4)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(5) Genomic(1) cDNA(4)
Microarray probesets(2)
Other database
links
Ensembl Gene ModelENSMUSG00000022534 (Evidence)
Entrez Gene54483 (Evidence)
UniGene143718
DFCITC1586265
DoTSDT.110720517, DT.110720520, DT.55205038
NIA Mouse Gene IndexU036720
Consensus CDS ProjectCCDS27907.1, CCDS49745.1
International Mouse Knockout Project StatusMefv
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 54483 NCBI Gene Model | MGI Sequence Detail 10910 C57BL/6J ±  kb
transcript NM_001161790 RefSeq | MGI Sequence Detail 3249 C57BL/6 
polypeptide Q9JJ26 UniProt | EBI | MGI Sequence Detail 767 Not Applicable 

For the selected sequences
All sequences(30) RefSeq(10) UniProt(3)
Polymorphisms SNPs within 2kb(51 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004020 DAPIN domain
InterPro IPR011029 Death-like domain
InterPro IPR000315 Zinc finger, B-box
Protein Ontology PR:000010313 pyrin
Graphical View of Protein Domain Structure
References (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:192443 Hesker PR, et al., Genetic loss of murine pyrin, the Familial Mediterranean Fever protein, increases interleukin-1beta levels. PLoS One. 2012;7(11):e51105
All references(27)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory