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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 Ensembl 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

HCOP human homology predictions: MEFV
Gene Tree: Mefv

Human
homologs
MEFV, Mediterranean fever
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 4210
neXtProt AC: NX_O15553

Human Synonyms: FMF, MEF, TRIM20

Human Chr (Location): 16p13.3; chr16:3242028-3256627 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human MEFV

Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Targeted(8)
Incidental mutations (data from Mutagenetix , APF )
 
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 in Mice Using Mefv (1)    Mutations Annotated to Human Diseases (4)   
Interactions
Mefv interacts with 147 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (18 annotations)
Process immune system process, inflammatory response, ...
Component cell projection, cytoplasm, ...
Function actin binding, metal ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (38)    Tissues (17)    Images (5)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 38
cDNA source data(4)
Other mouse links: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(5) Genomic(1) cDNA(4)
Microarray probesets(2)
Other database
links
Ensembl Gene Model ENSMUSG00000022534 (Evidence)
Entrez Gene 54483 (Evidence)
UniGene 143718
DFCI TC1586265
DoTS DT.55205038, DT.110720520, DT.110720517
NIA Mouse Gene Index U036720
Consensus CDS Project CCDS27907.1, CCDS49745.1
International Mouse Phenotyping Consortium Status Mefv
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000022534 Ensembl Gene Model | MGI Sequence Detail 10910 C57BL/6J ±  kb
transcript ENSMUST00000100222 Ensembl | MGI Sequence Detail 3249 Not Applicable 
polypeptide ENSMUSP00000097795 Ensembl | MGI Sequence Detail 808 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
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(26)
Disease annotation references (1)

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
06/30/2015
MGI 5.22
The Jackson Laboratory