Version 5.4
Homo sapiens Gene: MEFV
Summary
InnateDB Gene IDBG-11729.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MEFV
Gene Name Mediterranean fever
Synonyms FMF; MEF; TRIM20
Species Homo sapiens
Ensembl Gene ENSG00000103313
Encoded Proteins
IDBP-11731
Mediterranean fever
IDBP-11733
Mediterranean fever
IDBP-594560
Mediterranean fever
IDBP-602444
Mediterranean fever
IDBP-600774
Mediterranean fever
IDBP-600521
Mediterranean fever
IDBP-601353
Mediterranean fever
IDBP-587282
Mediterranean fever
IDBP-594984
Mediterranean fever
IDBP-748396
IDBP-751438
IDBP-749941
IDBP-750194
IDBP-812421
Mediterranean fever
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
PMID 126461680
MEFV inhibits the formation of CASP8, PYCARD and NLRC4 inflammasome formation by competing with CASP8 to bind to PYCARD.
PMID 12615073
MEFV inhibits binding of NLRP3 with PYCARD.
PMID 17964261
PYCARD-MEFV pyroptosome is induced by PSTPIP1 in a pyrin-dependent manner.
PMID 17964261
MEFV homodimerization is important for its ability to induce PYCARD oligomerization and CASP1 activation.
PMID 14514692
MEFV gene is bound constitutively by CEBPB, while RELA binds to the MEFV gene upon TNFA stimulation.
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:3242028-3256627
Strand Reverse strand
Band p13.3
Transcripts
ENST00000219596 ENSP00000219596
ENST00000339854 ENSP00000339639
ENST00000537682 ENSP00000438611
ENST00000542898 ENSP00000444615
ENST00000536980 ENSP00000444178
ENST00000538326 ENSP00000437486
ENST00000541159 ENSP00000438711
ENST00000539145 ENSP00000444471
ENST00000536379 ENSP00000445079
ENST00000539154
ENST00000574583 ENSP00000460269
ENST00000570511 ENSP00000458312
ENST00000576315 ENSP00000460551
ENST00000572244 ENSP00000461186
ENST00000621655 ENSP00000481436
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.
Experimentally validated
Total 20 [view]
Protein-Protein 18 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
Biological Process
GO:0006954 inflammatory response
GO:0032691 negative regulation of interleukin-1 beta production
GO:0032695 negative regulation of interleukin-12 production
GO:0035872 nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway
GO:0045087 innate immune response (InnateDB)
GO:0050728 negative regulation of inflammatory response
GO:0071641 negative regulation of macrophage inflammatory protein 1 alpha production
GO:2001056 positive regulation of cysteine-type endopeptidase activity
Cellular Component
GO:0001726 ruffle
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005829 cytosol
GO:0005874 microtubule
GO:0005875 microtubule associated complex
GO:0030027 lamellipodium
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000022534
View Gene Order
ENSBTAG00000019123
Not yet available
Pathways
NETPATH
REACTOME
REACT_75808
The NLRP3 inflammasome pathway
REACT_75900
Inflammasomes pathway
REACT_6802
Innate Immune System pathway
REACT_75913
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways pathway
REACT_6900
Immune System pathway
KEGG
hsa04621
NOD-like receptor signaling pathway pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL F5H6N9
UniProt Splice Variant
Entrez Gene 4210
UniGene Hs.632221
RefSeq NM_000243 NM_001198536 XM_006720879
HUGO HGNC:6998
OMIM 608107
CCDS CCDS10498 CCDS55981
HPRD 02012
IMGT
EMBL AJ003147
GenPept
RNA Seq Atlas 4210

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca