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

Aliases for MEFV Gene

Aliases for MEFV Gene

  • Mediterranean Fever 2 3 5
  • Marenostrin 2 3 4
  • TRIM20 3 4
  • MEF 3 4
  • Pyrin 2
  • FMF 3

External Ids for MEFV Gene

Previous HGNC Symbols for MEFV Gene

  • MEF

Previous GeneCards Identifiers for MEFV Gene

  • GC16M003312
  • GC16M003293
  • GC16M003294
  • GC16M003232
  • GC16M003295

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 familial mediterranean fever, ar and familial mediterranean fever, ad. Among its related pathways are Immune System 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 the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma. Organizes autophagic machinery by serving as a platform for the assembly of ULK1, Beclin 1/BECN1, ATG16L1, and ATG8 family members and recognizes specific autophagy targets, thus coordinating target recognition with assembly of the autophagic apparatus and initiation of autophagy. Acts as an autophagy receptor for the degradation of several inflammasome components, including CASP1, NLRP1 and NLRP3, hence preventing excessive IL1B- and IL18-mediated inflammation (PubMed:16785446, PubMed:17431422, PubMed:26347139). However, it may also have a positive effect in the inflammatory pathway. In different experimental systems, it has been shown to activate IL1B production (PubMed:16037825). It has also been shown to be required for PSTPIP1-induced PYCARD oligomerization and for formation of inflammasomes. Recruits PSTPIP1 to inflammasomes, and is required for PSTPIP1 oligomerization (PubMed:10807793, PubMed:11468188, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923).

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

Regulatory Elements for MEFV Gene

Promoters for MEFV Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MEFV on UCSC Golden Path with GeneCards custom track

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

Genomic Location for MEFV Gene

Chromosome:
16
Start:
3,242,028 bp from pter
End:
3,256,627 bp from pter
Size:
14,600 bases
Orientation:
Minus strand

Genomic View for MEFV Gene

Genes around MEFV on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MEFV Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MEFV Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MEFV Gene

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 (PubMed:14595024, PubMed:17964261, PubMed:19109554). Interacts (via the B30.2/SPRY domain) with several components of the inflammasome complex, including CASP1 p20 and p10 subunits, CASP5, PYCARD, NLRP1, NLRP2 AND NLRP3, as well as with unprocessed IL1B; this interaction may lead to autophagic degradation of these proteins (PubMed:11498534, PubMed:16785446, PubMed:17431422, PubMed:17964261, PubMed:26347139). Interacts with NFKBIA and RELA (PubMed:18577712). Interacts weakly with VASP and ACTR3 (PubMed:19109554). Interacts with active ULK1 (phosphorylated on Ser-317) and BECN1 simultaneously. Also interacts with ATG16L1 (via WD repeats), and with ATG8 family members, including GABARAP, GABARAPL1 and, to a lesser extent, GABARAPL2, MAP1LC3A/LC3A and MAP1LC3C/LC3C. Interacts with TRIM21 (PubMed:26347139).
    Miscellaneous:
    • Degraded along with the delivery of its substrates to autolysosomal compartments (at protein level).

    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

Antibody Products

No data available for DME Specific Peptides for MEFV Gene

Domains & Families for MEFV Gene

Graphical View of Domain Structure for InterPro Entry

O15553

UniProtKB/Swiss-Prot:

MEFV_HUMAN :
  • The B box-type zinc finger interacts, possibly intramolecularly, with the pyrin domain; this may be an autoinhibitory mechanism released by PSTPIP1 binding.
  • Contains 1 B box-type zinc finger.
Domain:
  • The B box-type zinc finger interacts, possibly intramolecularly, with the pyrin domain; this may be an autoinhibitory mechanism released by PSTPIP1 binding.
  • Contains 1 B30.2/SPRY domain.
  • Contains 1 pyrin domain.
Similarity:
  • Contains 1 B box-type zinc finger.
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 the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma. Organizes autophagic machinery by serving as a platform for the assembly of ULK1, Beclin 1/BECN1, ATG16L1, and ATG8 family members and recognizes specific autophagy targets, thus coordinating target recognition with assembly of the autophagic apparatus and initiation of autophagy. Acts as an autophagy receptor for the degradation of several inflammasome components, including CASP1, NLRP1 and NLRP3, hence preventing excessive IL1B- and IL18-mediated inflammation (PubMed:16785446, PubMed:17431422, PubMed:26347139). However, it may also have a positive effect in the inflammatory pathway. In different experimental systems, it has been shown to activate IL1B production (PubMed:16037825). It has also been shown to be required for PSTPIP1-induced PYCARD oligomerization and for formation of inflammasomes. Recruits PSTPIP1 to inflammasomes, and is required for PSTPIP1 oligomerization (PubMed:10807793, PubMed:11468188, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923).
UniProtKB/Swiss-Prot Induction:
In monocytes, up-regulated 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 and macrophages, up-regulated by IFNG/IFN-gamma with a peak after 8 hours of treatment.
genes like me logo Genes that share phenotypes with MEFV: view

Human Phenotype Ontology for MEFV Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MEFV Gene

MGI Knock Outs for MEFV:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets 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. Cytoplasm. Cytoplasmic vesicle, autophagosome. 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 (inflammasomes). 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
cytosol 5
nucleus 5
vacuole 4
extracellular 2
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MEFV Gene

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

Pathways & Interactions for MEFV Gene

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

Pathways by source for MEFV Gene

Gene Ontology (GO) - Biological Process for MEFV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010508 positive regulation of autophagy IDA 26347139
GO:0032695 negative regulation of interleukin-12 production IMP 20041150
GO:1900016 negative regulation of cytokine production involved in inflammatory response IMP 26347139
GO:1900226 negative regulation of NLRP3 inflammasome complex assembly IMP 26347139
GO:2001056 positive regulation of cysteine-type endopeptidase activity IDA 19158676
genes like me logo Genes that share ontologies with MEFV: view

No data available for SIGNOR curated interactions for MEFV Gene

Drugs & Compounds for MEFV Gene

(8) Drugs for MEFV Gene - From: Novoseek and ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Colchicine Approved Pharma Antagonist Tubulin Inhibitor, Inhibitor of tubulin 104
Antimitotic Agents Pharma 4296
Antirheumatic Agents Pharma 8496
Tubulin Modulators Pharma 4279

(3) Additional Compounds for MEFV Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 (x42.3).

Protein differential expression in normal tissues from HIPED for MEFV Gene

This gene is overexpressed in Nasal epithelium (30.7), Peripheral blood mononuclear cells (20.0), and Ovary (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with MEFV: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for MEFV Gene

Orthologs for MEFV Gene

This gene was present in the common ancestor of chordates.

Orthologs for MEFV Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC529195 35
  • 72.61 (n)
  • 63.17 (a)
MEFV 36
  • 59 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MEFV 35
  • 72.22 (n)
  • 62.71 (a)
MEFV 36
  • 57 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mefv 35
  • 66.5 (n)
  • 54.53 (a)
Mefv 16
chimpanzee
(Pan troglodytes)
Mammalia MEFV 35
  • 98.8 (n)
  • 98.21 (a)
MEFV 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mefv 35
  • 61.08 (n)
  • 47.73 (a)
oppossum
(Monodelphis domestica)
Mammalia MEFV 36
  • 40 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 35 (a)
OneToMany
-- 36
  • 37 (a)
OneToMany
-- 36
  • 28 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 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
rs3743930 Familial Mediterranean fever, autosomal dominant (ADFMF), Familial Mediterranean fever, autosomal recessive (ARFMF) 3,254,626(-) AGCCC(C/G)AGGCC intron-variant, reference, missense
VAR_009052 Familial Mediterranean fever, autosomal recessive (ARFMF)
rs224222 - 3,254,463(-) GGTCC(A/G)GCTGC intron-variant, reference, missense
rs104895081 Familial Mediterranean fever, autosomal recessive (ARFMF) 3,254,268(-) AAAGA(C/T)AGCTG intron-variant, reference, missense
rs11466023 Familial Mediterranean fever, autosomal recessive (ARFMF) 3,249,586(-) TAAGC(A/C/T)CCCAG reference, missense

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

Variation tolerance for MEFV Gene

Residual Variation Intolerance Score: 97.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.13; 80.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MEFV Gene

HapMap Linkage Disequilibrium report
MEFV
Human Gene Mutation Database (HGMD)
MEFV

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MEFV Gene

Disorders for MEFV Gene

MalaCards: The human disease database

(39) MalaCards diseases for MEFV Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
familial mediterranean fever, ar
  • familial mediterranean fever
familial mediterranean fever, ad
  • familial mediterranean fever, autosomal dominant
intermittent hydrarthrosis
  • intermittent joint effusion
behcet's disease
  • adamantiades-behcet disease
brucellosis
  • bang's disease
- elite association - COSMIC cancer census association via MalaCards
Search MEFV in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MEFV_HUMAN
  • 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.
  • 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:26347139, 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. The disease-associated mutations in the B30.2/SPRY domain perturb ULK1 recruitment and autophagic degradation of inflammasome components, including NLRP3, and hence may contribute to the inflammatory phenotype associated with ARFMF. {ECO:0000269 PubMed:26347139}.

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

Genetic Association Database (GAD)
MEFV
Human Genome Epidemiology (HuGE) Navigator
MEFV
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MEFV
genes like me logo Genes that share disorders with MEFV: view

Publications for MEFV Gene

  1. Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations. (PMID: 16378925) Medlej-Hashim M. … Megarbane A. (Eur. J. Med. Genet. 2005) 3 4 48 67
  2. MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey. (PMID: 19449169) Akin H. … Ozkinay F. (Mol. Biol. Rep. 2010) 3 23
  3. Prevalence and significance of MEFV gene mutations in a cohort of patients with rheumatoid arthritis. (PMID: 20031469) Koca S.S. … Isik A. (Joint Bone Spine 2010) 3 23
  4. MEFV gene mutations in Egyptian patients with familial Mediterranean fever. (PMID: 20151816) El Gezery D.A. … El-Sayegh H.K. (Genet Test Mol Biomarkers 2010) 3 23
  5. The spectrum of FMF mutations and genotypes in the referrals to molecular genetic laboratory at Kirikkale University in Turkey. (PMID: 18389382) Gunel-Ozcan A. … Ensari C. (Mol. Biol. Rep. 2009) 3 23

Products for MEFV Gene

Sources for MEFV Gene

Back to Top

Content