Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MEFV Gene

Aliases for MEFV Gene

  • Mediterranean Fever 2 3
  • MEF 3 4 6
  • Marenostrin 3 4
  • Pyrin 2 3
  • FMF 3 6
  • TRIM20 3

External Ids for MEFV Gene

Previous Symbols for MEFV Gene

  • MEF

Summaries for MEFV Gene

Entrez Gene Summary for MEFV Gene

  • 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]

GeneCards Summary for MEFV Gene

MEFV (Mediterranean Fever) is a Protein Coding gene. Diseases associated with MEFV include intermittent hydrarthrosis and hydrarthrosis. Among its related pathways are Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways and Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways. GO annotations related to this gene include actin binding. An important paralog of this gene is RFPL4A.

UniProtKB/Swiss-Prot for MEFV Gene

  • Involved in innate immunity and the inflammatory response. Interacts with several components of the inflammasome complex, a large oligomeric structure which recruits and activates CASP1 and ultimately induces maturation of cytokines such as IL1B. However, the exact role of MEFV in the inflammatory pathway is uncertain as contradictory effects on IL1B processing have been reported in different experimental systems. Has been shown to activate IL1B production (PubMed:16037825). Has also been shown to inhibit IL1B production (PubMed:16785446, PubMed:17431422). Also required for PSTPIP1-induced PYCARD oligomerization and for formation of pyroptosomes, large supramolecular structures composed of oligomerized PYCARD dimers which form prior to inflammatory apoptosis. Can reduce PYCARD-induced apoptosis. Recruits PSTPIP1 to pyroptosomes, and required for PSTPIP1 oligomerization.

Gene Wiki entry for MEFV Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MEFV Gene

Genomics for MEFV Gene

Genomic Location for MEFV Gene

Start:
3,242,028 bp from pter
End:
3,256,648 bp from pter
Size:
14,621 bases
Orientation:
Minus strand

Genomic View for MEFV Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MEFV Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MEFV Gene

Regulatory Elements for MEFV Gene

Transcription factor binding sites by QIAGEN in the MEFV gene promoter:

Proteins for MEFV Gene

  • Protein details for MEFV Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15553-MEFV_HUMAN
    Recommended name:
    Pyrin
    Protein Accession:
    O15553
    Secondary Accessions:
    • D3DUC0
    • F5H0Q3
    • Q3MJ84
    • Q96PN4
    • Q96PN5

    Protein attributes for MEFV Gene

    Size:
    781 amino acids
    Molecular mass:
    86444 Da
    Quaternary structure:
    • Homotrimer. Interacts (via the B box-type zinc finger) with PSTPIP1. Interacts (via the B30.2/SPRY domain) with CASP1 p20 and p10 subunits, CASP5, NLRP1, NLRP2 AND NLRP3. Interacts with NFKBIA, PYCARD, RELA and IL1B but not processed IL1B. Interacts weakly with VASP and ACTR3.

    Three dimensional structures from OCA and Proteopedia for MEFV Gene

    Alternative splice isoforms for MEFV Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MEFV Gene

Proteomics data for MEFV Gene at MOPED

Post-translational modifications for MEFV Gene

  • Cleaved by CASP1 (Probable). The N-terminal cleavage product localizes to the nucleus as a filamentous network and to the cytoplasm, interacts more strongly with RELA and NFKBIA than the full-length protein, enhances the nuclear localization of RELA and induces NFKBIA proteolysis. The C-terminal cleavage product localizes to the cytoplasm.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MEFV Gene

Domains for MEFV Gene

Gene Families for MEFV Gene

HGNC:
  • TRIM :Tripartite motif containing / Tripartite motif containing

UniProtKB/Swiss-Prot:

MEFV_HUMAN
Domain:
  • The B box-type zinc finger interacts, possibly intramolecularly, with the DAPIN domain; this may be an autoinhibitory mechanism released by PSTPIP1 binding:
    • O15553
  • Contains 1 B30.2/SPRY domain.:
    • O15553
  • Contains 1 DAPIN domain.:
    • O15553
Similarity:
  • Contains 1 B box-type zinc finger.:
    • O15553
genes like me logo Genes that share domains with MEFV: view

Function for MEFV Gene

Molecular function for MEFV Gene

GENATLAS Biochemistry: nuclear factor,marenostrin (pyrin),almost exclusively expressed in granulocytes,related to the Ro autoantigen and ret finger proteins and to butyrophilin,mutated in Mediterranean fever (MEFV)
UniProtKB/Swiss-Prot Function: Involved in innate immunity and the inflammatory response. Interacts with several components of the inflammasome complex, a large oligomeric structure which recruits and activates CASP1 and ultimately induces maturation of cytokines such as IL1B. However, the exact role of MEFV in the inflammatory pathway is uncertain as contradictory effects on IL1B processing have been reported in different experimental systems. Has been shown to activate IL1B production (PubMed:16037825). Has also been shown to inhibit IL1B production (PubMed:16785446, PubMed:17431422). Also required for PSTPIP1-induced PYCARD oligomerization and for formation of pyroptosomes, large supramolecular structures composed of oligomerized PYCARD dimers which form prior to inflammatory apoptosis. Can reduce PYCARD-induced apoptosis. Recruits PSTPIP1 to pyroptosomes, and required for PSTPIP1 oligomerization.
UniProtKB/Swiss-Prot Induction: In monocytes, by treatment with colchicine and IFN-alpha, by the proinflammatory cytokines IFNG/IFN-gamma and TNF, by bacterial lipopolysaccharides (LPS) and by retroviral infection. Repressed in monocytes by the antiinflammatory cytokines IL10/interleukin-10, TGFB1 and IL4/interleukin-4. In neutrophils, colchicine, TNF, bacterial lipopolysaccharides (LPS), IL10/interleukin-10, INF-alpha and IL4/interleukin-4 have no effect on expression. IFNG/IFN-gamma increases expression in neutrophils.

Gene Ontology (GO) - Molecular Function for MEFV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 11468188
GO:0005515 protein binding --
GO:0008270 zinc ion binding NAS 11115844
genes like me logo Genes that share ontologies with MEFV: view
genes like me logo Genes that share phenotypes with MEFV: view

Animal Models for MEFV Gene

MGI Knock Outs for MEFV:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for MEFV Gene

Localization for MEFV Gene

Subcellular locations from UniProtKB/Swiss-Prot for MEFV Gene

Isoform 1: Cytoplasm, cytoskeleton. Cell projection, ruffle. Cell projection, lamellipodium. Nucleus. Note=Associated with microtubules and with the filamentous actin of perinuclear filaments and peripheral lamellar ruffles. In pre-apoptotic cells, colocalizes with PYCARD/ASC in large specks (pyroptosomes). In migrating monocytes, strongly polarized at the leading edge of the cell where it colocalizes with polymerizing actin and PYCARD/ASC.
Isoform 2: Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MEFV Gene COMPARTMENTS Subcellular localization image for MEFV gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4
extracellular 1

Gene Ontology (GO) - Cellular Components for MEFV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0005622 intracellular --
GO:0005634 nucleus IDA 11115844
GO:0005829 cytosol TAS --
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with MEFV: view

Pathways for MEFV Gene

genes like me logo Genes that share pathways with MEFV: view

Pathways by source for MEFV Gene

1 KEGG pathway for MEFV Gene

Gene Ontology (GO) - Biological Process for MEFV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006954 inflammatory response IDA 11468188
GO:0032691 negative regulation of interleukin-1 beta production IMP 20041150
GO:0032695 negative regulation of interleukin-12 production IMP 20041150
GO:0035872 nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway TAS --
GO:0045087 innate immune response TAS --
genes like me logo Genes that share ontologies with MEFV: view

Compounds for MEFV Gene

(8) Novoseek inferred chemical compound relationships for MEFV Gene

Compound -log(P) Hits PubMed IDs
colchicine 87.5 18
mnda 63.4 1
mevalonate 46.1 1
leucine 11.6 5
tyrosine 3.57 3
genes like me logo Genes that share compounds with MEFV: view

Transcripts for MEFV Gene

mRNA/cDNA for MEFV Gene

(2) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(15) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MEFV Gene

Mediterranean fever:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MEFV Gene

No ASD Table

Relevant External Links for MEFV Gene

GeneLoc Exon Structure for
MEFV
ECgene alternative splicing isoforms for
MEFV

Expression for MEFV Gene

mRNA expression in normal human tissues for MEFV Gene

mRNA differential expression in normal tissues according to GTEx for MEFV Gene

This gene is overexpressed in Whole Blood (42.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MEFV Gene

SOURCE GeneReport for Unigene cluster for MEFV Gene Hs.632221

mRNA Expression by UniProt/SwissProt for MEFV Gene

O15553-MEFV_HUMAN
Tissue specificity: Expressed in peripheral blood leukocytes, particularly in mature granulocytes and to a lesser extent in monocytes but not in lymphocytes. Detected in spleen, lung and muscle, probably as a result of leukocyte infiltration in these tissues. Not expressed in thymus, prostate, testis, ovary, small intestine, colon, heart, brain, placenta, liver, kidney, pancreas. Expression detected in several myeloid leukemic, colon cancer, and prostate cancer cell lines.
genes like me logo Genes that share expressions with MEFV: view

Orthologs for MEFV Gene

This gene was present in the common ancestor of chordates.

Orthologs for MEFV Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MEFV 36
  • 98.8 (n)
  • 98.21 (a)
MEFV 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LOC529195 36
  • 72.61 (n)
  • 63.17 (a)
MEFV 37
  • 59 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MEFV 36
  • 72.22 (n)
  • 62.71 (a)
MEFV 37
  • 57 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mefv 36
  • 66.5 (n)
  • 54.53 (a)
Mefv 16
oppossum
(Monodelphis domestica)
Mammalia MEFV 37
  • 40 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 35 (a)
OneToMany
-- 37
  • 37 (a)
OneToMany
-- 37
  • 28 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Mefv 36
  • 61.08 (n)
  • 47.73 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 28 (a)
ManyToMany
Species with no ortholog for MEFV:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for MEFV Gene

ENSEMBL:
Gene Tree for MEFV (if available)
TreeFam:
Gene Tree for MEFV (if available)

Paralogs for MEFV Gene

Paralogs for MEFV Gene

genes like me logo Genes that share paralogs with MEFV: view

Variants for MEFV Gene

Sequence variations from dbSNP and Humsavar for MEFV Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs170383 -- 3,244,931(-) TGTGT(G/T)TTTTT intron-variant
rs170384 -- 3,245,385(-) ggatt(A/G)caggc intron-variant
rs170385 -- 3,245,394(-) aaagc(A/G)ctggg intron-variant
rs170387 -- 3,242,398(-) gccac(C/T)gtgcc utr-variant-3-prime, downstream-variant-500B
rs172790 -- 3,245,066(-) caagc(A/G)atccc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MEFV Gene

Variant ID Type Subtype PubMed ID
nsv457355 CNV Gain 19166990
nsv905208 CNV Loss 21882294
nsv833127 CNV Gain+Loss 17160897
nsv905209 CNV Gain 21882294
nsv516280 CNV Gain 19592680
nsv509592 CNV Insertion 20534489
dgv2583n71 CNV Loss 21882294

Relevant External Links for MEFV Gene

HapMap Linkage Disequilibrium report
MEFV
Human Gene Mutation Database (HGMD)
MEFV
Locus Specific Mutation Databases (LSDB)
MEFV

Disorders for MEFV Gene

(2) OMIM Diseases for MEFV Gene (608107)

UniProtKB/Swiss-Prot

MEFV_HUMAN
  • Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100]: A hereditary periodic fever syndrome characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or joints. It is frequently complicated by reactive amyloidosis, which leads to renal failure and can be prophylactically treated with colchicine. {ECO:0000269 PubMed:10024914, ECO:0000269 PubMed:10090880, ECO:0000269 PubMed:10234504, ECO:0000269 PubMed:10364520, ECO:0000269 PubMed:10612841, ECO:0000269 PubMed:10842288, ECO:0000269 PubMed:10854105, ECO:0000269 PubMed:11470495, ECO:0000269 PubMed:15024744, ECO:0000269 PubMed:16378925, ECO:0000269 PubMed:16730661, ECO:0000269 PubMed:23031807, ECO:0000269 PubMed:24929125, ECO:0000269 PubMed:9288094, ECO:0000269 PubMed:9288758, ECO:0000269 PubMed:9668175}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Familial Mediterranean fever, autosomal dominant (ADFMF) [MIM:134610]: A hereditary periodic fever syndrome characterized by periodic fever, serosal inflammation and pain in the abdomen, chest or joints as seen also in the autosomal recessive form of the disease. It is associated with reactive renal amyloidosis and characterized by colchicine unresponsiveness. {ECO:0000269 PubMed:10787449, ECO:0000269 PubMed:14679589}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(39) Novoseek inferred disease relationships for MEFV Gene

Disease -log(P) Hits PubMed IDs
familial mediterranean fever 98.6 123
serositis 93 4
hereditary periodic fever syndromes 91.5 3
muckle-wells syndrome 88.8 2
cold hypersensitivity 87.9 1

Genatlas disease for MEFV Gene

Mediterranean fever,excluding hyper-IgD and periodic fever syndrome,including late onset form,mild without amyloidosis or chronic arthritis

Relevant External Links for MEFV

GeneTests
MEFV
GeneReviews
MEFV
Genetic Association Database (GAD)
MEFV
Human Genome Epidemiology (HuGE) Navigator
MEFV
genes like me logo Genes that share disorders with MEFV: view

Publications for MEFV Gene

  1. Is the Ala138Gly alteration of MEFV gene important for amyloidosis? (PMID: 11139244) Akar E. … Akar N. (Hum. Mutat. 2001) 3 4 23 49
  2. Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease. (PMID: 11470495) Timmann C. … Horstmann R.D. (Mutat. Res. 2001) 3 4 23 49
  3. Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state. (PMID: 11484206) Kogan A. … Livneh A. (Am. J. Med. Genet. 2001) 3 23 49
  4. Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis. (PMID: 11498534) Richards N. … Gumucio D.L. (J. Biol. Chem. 2001) 3 4 23
  5. Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever. (PMID: 10842288) Dode C. … Grateau G. (Am. J. Med. Genet. 2000) 3 4 23

Products for MEFV Gene

Sources for MEFV Gene

Back to Top

Content