Human Gene MEFV (ENST00000219596.6) from GENCODE V44
  Description: Homo sapiens MEFV innate immuity regulator, pyrin (MEFV), transcript variant 1, mRNA. (from RefSeq NM_000243)
RefSeq Summary (NM_000243): 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].
Gencode Transcript: ENST00000219596.6
Gencode Gene: ENSG00000103313.14
Transcript (Including UTRs)
   Position: hg38 chr16:3,242,027-3,256,633 Size: 14,607 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg38 chr16:3,243,141-3,256,587 Size: 13,447 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:3,242,027-3,256,633)mRNA (may differ from genome)Protein (781 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MEFV_HUMAN
DESCRIPTION: RecName: Full=Pyrin; AltName: Full=Marenostrin;
FUNCTION: Probably controls the inflammatory response in myelomonocytic cells at the level of the cytoskeleton organization.
SUBUNIT: Interacts with PSTPIP1.
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm, cytoskeleton. Note=Associated with microtubules and with the filamentous actin of perinuclear filaments and peripheral lamellar ruffles.
SUBCELLULAR LOCATION: Isoform 2: Nucleus.
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.
DEVELOPMENTAL STAGE: First detected in bone marrow promyelocytes. Expression increases throughout myelocyte differentiation and peaks in the mature myelomonocytic cells.
INDUCTION: In monocytes, by treatment with colchicine and IFN- alpha, and by the proinflammatory cytokines IFNG/IFN-gamma, TNF and bacterial lipopolysaccharides (LPS). 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.
DISEASE: Defects in MEFV are the cause of familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]. ARFMF is an inherited disorder characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or joints. ARFMF is frequently complicated by amyloidosis, which leads to renal failure and can be prophylactically treated with colchicine. ARFMF primarily affects ancestral ethnic groups living around the Mediterranean basin: North African Jews, Armenians, Arabs and Turks. The disease is also distributed in other populations including Greeks, Cypriots, Italians and Spanish, although at a lower prevalence.
DISEASE: Defects in MEFV are the cause of familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610]. ADFMF is 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 renal amyloidosis and characterized by colchicine unresponsiveness.
SIMILARITY: Contains 1 B box-type zinc finger.
SIMILARITY: Contains 1 B30.2/SPRY domain.
SIMILARITY: Contains 1 DAPIN domain.
WEB RESOURCE: Name=INFEVERS; Note=Repertory of FMF and hereditary autoinflammatory disorders mutations; URL="http://fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=1";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MEFV";

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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-  MalaCards Disease Associations
  MalaCards Gene Search: MEFV
Diseases sorted by gene-association score: familial mediterranean fever, ar* (1683), familial mediterranean fever, ad* (1200), behcet syndrome* (449), intermittent hydrarthrosis* (43), brucellosis (32), muckle-wells syndrome (25), aphthous stomatitis (25), palindromic rheumatism (24), hydrarthrosis (23), pharyngitis (23), pyoderma gangrenosum (23), polyarteritis nodosa (22), pericarditis (21), psoriatic juvenile idiopathic arthritis (18), inflammatory myopathy with abundant macrophages (18), pleurisy (18), periodic fever, familial (15), familial cold-induced inflammatory syndrome 1 (15), amyloidosis (14), pyoderma (13), henoch-schoenlein purpura (13), cinca syndrome (13), systemic onset juvenile idiopathic arthritis (13), enthesopathy (13), autoinflammation, panniculitis, and dermatosis syndrome (11), erysipeloid (11), amyloidosis, familial visceral (11), idiopathic recurrent pericarditis (10), blau syndrome (10), amyloidosis aa (10), cervical adenitis (9), adult-onset still's disease (9), erysipelas (9), relapsing fever (9), hypersensitivity vasculitis (8), hypersensitivity reaction type iii disease (8), vasculitis (8), colchicine resistance (8), wells syndrome (7), peritonitis (6), stomatitis (6), arthritis (6), hypersensitivity reaction disease (6), specific bursitis often of occupational origin (5), pericardium disease (5), olecranon bursitis (5), byssinosis (5), immune system disease (1), primary bacterial infectious disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 38.41 RPKM in Whole Blood
Total median expression: 62.05 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -13.1046-0.285 Picture PostScript Text
3' UTR -359.501114-0.323 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001870 - B30.2/SPRY
IPR003879 - Butyrophylin
IPR008985 - ConA-like_lec_gl_sf
IPR004020 - DAPIN
IPR011029 - DEATH-like
IPR006574 - PRY
IPR018355 - SPla/RYanodine_receptor_subgr
IPR003877 - SPRY_rcpt
IPR000315 - Znf_B-box

Pfam Domains:
PF02758 - PAAD/DAPIN/Pyrin domain
PF00622 - SPRY domain
PF00643 - B-box zinc finger

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2WL1 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O15553
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0042802 identical protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0002376 immune system process
GO:0006954 inflammatory response
GO:0010508 positive regulation of autophagy
GO:0032691 negative regulation of interleukin-1 beta production
GO:0032695 negative regulation of interleukin-12 production
GO:0034341 response to interferon-gamma
GO:0045087 innate immune response
GO:0050728 negative regulation of inflammatory response
GO:0071641 negative regulation of macrophage inflammatory protein 1 alpha production
GO:1900016 negative regulation of cytokine production involved in inflammatory response
GO:1900226 negative regulation of NLRP3 inflammasome complex assembly
GO:2001056 positive regulation of cysteine-type endopeptidase activity

Cellular Component:
GO:0001726 ruffle
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005776 autophagosome
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0005875 microtubule associated complex
GO:0030027 lamellipodium
GO:0031410 cytoplasmic vesicle
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  AK298660 - Homo sapiens cDNA FLJ56580 complete cds, highly similar to Pyrin.
AF018080 - Homo sapiens PYRIN (MEFV) mRNA, complete cds.
JD120506 - Sequence 101530 from Patent EP1572962.
JD414727 - Sequence 395751 from Patent EP1572962.
JD397022 - Sequence 378046 from Patent EP1572962.
JD069714 - Sequence 50738 from Patent EP1572962.
JD094073 - Sequence 75097 from Patent EP1572962.
JD513892 - Sequence 494916 from Patent EP1572962.
JD094072 - Sequence 75096 from Patent EP1572962.
JD120504 - Sequence 101528 from Patent EP1572962.
JD069713 - Sequence 50737 from Patent EP1572962.
JD513891 - Sequence 494915 from Patent EP1572962.
JD379587 - Sequence 360611 from Patent EP1572962.
JD420416 - Sequence 401440 from Patent EP1572962.
JD321650 - Sequence 302674 from Patent EP1572962.
JD264617 - Sequence 245641 from Patent EP1572962.
JD234610 - Sequence 215634 from Patent EP1572962.
JD377570 - Sequence 358594 from Patent EP1572962.
JD514143 - Sequence 495167 from Patent EP1572962.
JD137562 - Sequence 118586 from Patent EP1572962.
JD333683 - Sequence 314707 from Patent EP1572962.
JD114737 - Sequence 95761 from Patent EP1572962.
JD285591 - Sequence 266615 from Patent EP1572962.
JD072376 - Sequence 53400 from Patent EP1572962.
JD187702 - Sequence 168726 from Patent EP1572962.
JD068506 - Sequence 49530 from Patent EP1572962.
JD072377 - Sequence 53401 from Patent EP1572962.
JD398605 - Sequence 379629 from Patent EP1572962.
JD070394 - Sequence 51418 from Patent EP1572962.
JD406268 - Sequence 387292 from Patent EP1572962.
JD536605 - Sequence 517629 from Patent EP1572962.
Y14441 - Homo sapiens mRNA for Marenostrin protein, complete.
JD274354 - Sequence 255378 from Patent EP1572962.
JD391403 - Sequence 372427 from Patent EP1572962.
JD126879 - Sequence 107903 from Patent EP1572962.
JD222324 - Sequence 203348 from Patent EP1572962.
BC101537 - Homo sapiens Mediterranean fever, mRNA (cDNA clone MGC:126586 IMAGE:8069043), complete cds.
BC101511 - Homo sapiens Mediterranean fever, mRNA (cDNA clone MGC:126560 IMAGE:8069017), complete cds.
JD255374 - Sequence 236398 from Patent EP1572962.
JD541795 - Sequence 522819 from Patent EP1572962.
JD156577 - Sequence 137601 from Patent EP1572962.
JD376210 - Sequence 357234 from Patent EP1572962.
FJ785717 - Homo sapiens pyrin/marenostrin variant del234 (MEFV) mRNA, complete cds, alternatively spliced.
FJ785718 - Homo sapiens pyrin/marenostrin variant del234-del7 (MEFV) mRNA, complete cds, alternatively spliced.
FJ785719 - Homo sapiens pyrin/marenostrin variant del234-del78 (MEFV) mRNA, complete cds, alternatively spliced.
FJ785720 - Homo sapiens pyrin/marenostrin variant del2345 (MEFV) mRNA, complete cds, alternatively spliced.
FJ785721 - Homo sapiens pyrin/marenostrin variant del34-del78 (MEFV) mRNA, complete cds, alternatively spliced.
FJ785722 - Homo sapiens pyrin/marenostrin variant 2delta9ext (MEFV) mRNA, complete cds, alternatively spliced.
AB527834 - Synthetic construct DNA, clone: pF1KB5798, Homo sapiens MEFV gene for Pyrin, without stop codon, in Flexi system.
DQ585233 - Homo sapiens piRNA piR-52345, complete sequence.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04621 - NOD-like receptor signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein O15553 (Reactome details) participates in the following event(s):

R-HSA-877361 Pyrin binds ASC
R-HSA-879221 PSTPIP1 binds Pyrin
R-HSA-844456 The NLRP3 inflammasome
R-HSA-622312 Inflammasomes
R-HSA-168643 Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: D3DUC0, ENST00000219596.1, ENST00000219596.2, ENST00000219596.3, ENST00000219596.4, ENST00000219596.5, MEF, MEFV_HUMAN, NM_000243, O15553, Q3MJ84, Q96PN4, Q96PN5, uc002cun.1, uc002cun.2
UCSC ID: ENST00000219596.6
RefSeq Accession: NM_000243
Protein: O15553 (aka MEFV_HUMAN)
CCDS: CCDS10498.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MEFV:
fmf (Familial Mediterranean Fever)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.