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Aliases & Descriptions for MEFV gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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User Feedback Aliases & Descriptions Mediterranean fever1 2 MGC1265862 FMF1 2 5 MGC1265602 MEF2 3 5 Mediterranean fever protein2 TRIM201 2 marenostrin2 pyrin2 Marenostrin3
Search outside databases for aliases for MEFV genePrevious GC identifers: GC16M003312 GC16M003293 GC16M003294 GC16M003232
Summaries for MEFV gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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User Feedback Entrez Gene summary for MEFV : 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) UniProtKB/Swiss-Prot: MEFV_HUMAN, O15553 Function : Probably controls the inflammatory response in myelomonocytic cells at the level of the cytoskeletonorganization Gene Wiki entry for MEFV
Genomic Views for MEFV gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl (release 56) ,
Regulatory elements and Epigenetics data according to
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User Feedback Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the MEFV gene upstream (promoter) region :NF-kappaB1 NF-kappaB C/EBPbeta AP-1 C/EBPalpha p53 STAT1 STAT1beta STAT1alpha c-Fos Epigenetics: SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for MEFV: MePH20182-1A Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 16p13.3 Ensembl cytogenetic band: 16p13.3 HGNC cytogenetic band: 16p13.3 MEFV Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 16 GeneLoc Exon Structure
GeneLoc location for GC16M003295: view genomic region
(about GC identifiers )
Start:
3,292,028 bp from pter
End:
3,306,627 bp from pter
Size:
14,600 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000016.9 NT_010393.16 Proteins for MEFV gene
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene ,
Novus Biologicals , and/or
Sino Biological ,
Biochemical Assays by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 May 2010 and
Entrez Gene ,
Antibodies by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abnova ,
OriGene ,
Novus Biologicals , and/or
Epitomics )
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User Feedback UniProtKB/Swiss-Prot: MEFV_HUMAN, O15553 (See
protein sequence )Recommended Name: Pyrin Size : 781 amino acids; 86444 Da
Subunit : Interacts with PSTPIP1
Subcellular location : Isoform 1: Cytoplasm, cytoskeleton. Note=Associated with microtubules and with the filamentousactin of perinuclear filaments and peripheral lamellar ruffles
Subcellular location : Isoform 2: Nucleus
Developmental stage : First detected in bone marrow promyelocytes. Expression increases throughout myelocytedifferentiation and peaks in the mature myelomonocytic cells
PDB structures from and Proteopedia : 2WL1 (3D)
 
Secondary accessions : Q3MJ84 Q96PN4 Q96PN5Alternative splicing : 2 isoforms : O15553-2 O15553-1 Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins: NP_000234.1 ENSEMBL proteins: ENSP00000339639 ENSP00000219596 Human Recombinant Proteins 5/6 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 6
):
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MEFV for ontologies About GeneDecksing Antibodies for MEFV: Assays for MEFV:
Protein
Domains/ Families for MEFV gene(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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MEFV for domains About GeneDecksing 5/8 InterPro domains/families (see all 8
):
Graphical View of Domain Structure for InterPro Entry O15553 ProtoNet protein and cluster: O15553
4 Blocks protein families : IPB000315 B-box zinc finger signature IPB003879 Butyrophylin C-terminal DUF signature IPB004020 Pyrin domain IPB006574 SPRY-associated domain UniProtKB/Swiss-Prot: MEFV_HUMAN, O15553 Similarity : Contains 1 B box-type zinc fingerSimilarity : Contains 1 B30.2/SPRY domainSimilarity : Contains 1 DAPIN domain
Gene Function for MEFV gene
(According to MGI May 08 2010, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Millipore ,
Abnova ,
siRNAs from
Applied Biosystems ,
Sigma-Aldrich , Clones from
Millipore ,
Sigma-Aldrich ,
OriGene ,
Sino Biological ,
Ontologies according to Gene Ontology Consortium 01 May 2010 via
Entrez Gene .)
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User Feedback UniProtKB/Swiss-Prot: MEFV_HUMAN, O15553 Function : Probably controls the inflammatory response in myelomonocytic cells at the level of the cytoskeletonorganization Induction : In monocytes, by treatment with colchicine and IFN-alpha, and by the proinflammatory cytokines IFN-gamma,TNF-alpha and LPS. Repressed in monocytes by the antiinflammatory cytokines IL-10, TGF-beta and IL-4. In neutrophils, colchicine, TNF-alpha, LPS, IL-10, INF-alpha and IL-4 has no effect on expression. INF-gamma increases expression in neutrophils
Genatlas biochemistry entry for MEFV :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) 4 Gene Ontology (GO) molecular function terms (GO ID links to tree view) :
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MEFV for ontologies About GeneDecksing Animal Models: 2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Mefv) :
MEFV for phenotypes About GeneDecksing Pathways & Interactions for MEFV gene
(Pathways according to
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
Applied Biosystems GeneAssist ,
KEGG
and/or UniProtKB ,
(map by GeneGo ),
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 May 2010 via
Entrez Gene) .
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MEFV for pathways About GeneDecksing 1 Kegg Pathway (Kegg details for MEFV) : hsa04621 NOD-like receptor signaling pathway
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MEFV 5/21 Interacting proteins for MEFV (ENSP00000219596 3 O15553 2 ) via UniProtKB, MINT, and/or STRING (see all 21
) About this table 1 Gene Ontology (GO) biological process term (GO ID links to tree view) :
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MEFV for ontologies About GeneDecksing
Drugs & Compounds for MEFV gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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MEFV for compounds About GeneDecksing Browse Tocris compounds for MEFV 10/20 Novoseek chemical compound relationships for MEFV gene (see all 20
)
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
colchicine
28.58
32
11802319 (5), 14978665 (4), 14679589 (2), 11468188 (2) (see all 23 )
telithromycin
4.42
4
18073148 (1), 17405779 (1), 15705635 (1), 11062201 (1)
erythromycin
2.00
7
18073148 (1), 17405779 (1), 16201929 (1), 16189099 (1) (see all 7 )
p205
1.51
1
15342947 (1)
mevalonate
1.08
2
16466630 (1), 15059033 (1)
leucine
0.89
6
19682372 (1), 18648497 (1), 15999810 (1), 15892040 (1) (see all 6 )
isoleucine
0.81
2
15231984 (1), 12924509 (1)
phalloidin
0.70
1
11468188 (1)
sulfasalazine
0.32
1
17408446 (1)
azithromycin
0.23
1
18073148 (1)
About this table
Transcripts for MEFV gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 223 Homo sapiens; Apr 2 2010) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
Millipore and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
microRNA from SABiosciences ,
Tagged/untagged cDNA clones from
OriGene ,
Primers from
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User Feedback Assays: Applied Biosystems TaqMan® Gene Expression Assays: NM_000243 Clones: Origene GFP tagged cDNA clones in CMV expression vector: MEFV Origene Myc/DDK tagged cDNA clones in CMV expression vector: MEFV Origene untagged cDNA clones in CMV expression vector: MEFV
Primers: Origene genome-wide validated SYBR primer pairs: MEFV SABiosciences RT2 qPCR Primer Assay for MEFV: PPH13601A
REFSEQ mRNAs for MEFV gene: NM_000243.2
Additional cDNA sequence: AF018080.1 AK298660.1 BC101511.1 BC101537.1 FJ785717.1 FJ785722.1 Y14441.1
1 DOTS entry : DT.103777
7 AceView cDNA sequences :
AW440869 CD639999 NM_000243 AF018080 BI907993 Y14441 BI024282
highest scoring ESTs for MEFV :Y14441 AF018080 BI024282 AW440869 BC101511 BC101537 BI907993 BM922554 CD639999 NM_000243 Unigene Cluster for MEFV:
Mediterranean fever Hs.632221 [show with all ESTs ] Unigene Representative Sequence: AF018080 GeneLoc Exon Structure 2 Ensembl transcripts including schematic representations : ENST00000339854
ENST00000219596
Expression for MEFV gene
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 223 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems ,
Primers from
OriGene and/or
SABiosciences
)
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User Feedback MEFV expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for MEFV 1 / 2 / 3
2 probe-sets matching MEFV gene
Affymetrix probe-set
Array
GeneAnnot data
GeneNote data
GeneTide data
# genes
Sensitivity
Specificity
Correlation
Length
Gb_Accession
Consensus
Uniqueness
Score
Rank
208262_x_at2 , 3
U133-A
14
0.82
0.81
--
--
NM_000243
0.40
1.00
0.76
1
208262_x_at2
U133Plus2
14
0.82
0.81
--
--
--
--
--
--
--
About this table Data from
Genenote  
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: AATAAAAAAA SOURCE GeneReport for Unigene cluster: Hs.632221 UniProtKB/Swiss-Prot: MEFV_HUMAN, O15553 Tissue specificity : Expressed in peripheral blood leukocytes, particularly in mature granulocytes and to a lesserextent in monocytes but not in lymphocytes. Detected in spleen, lung and muscle, probably as a result of leucocyte 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
Primers: Origene genome-wide validated SYBR primer pairs: MEFV SABiosciences RT2 qPCR Primer Assay for MEFV: PPH13601A
Orthologs for MEFV gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI May 08 2010,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for MEFV gene from 4 species
About this table Species with no ortholog for MEFV ENSEMBL Gene Tree for MEFV Paralogs for MEFV gene (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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User Feedback Paralogs for MEFV gene RFPL1 2 LOC729974 2 RFPL3 2 RFPL4A 2 RFPL2 2 RNF39 2
MEFV for paralogs About GeneDecksing
Genomic Variants for MEFV gene (SNPs according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for MEFV (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 2 variations for MEFV 2 CNVs : 49690 4921
Disorders & Mutations for MEFV gene
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
LSDB, HGMD, GAD ,
HuGE Navigator ,
BCGD,
and/or TGDB .)
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MEFV for disorders About GeneDecksing
OMIM: 608107 disorders : 249100 134610 UniProtKB/Swiss-Prot: MEFV_HUMAN, O15553
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 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
10/125 Novoseek disease relationships for MEFV gene (see all 125
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
brucellosis
100.00
83
20031469 (8), 19755381 (7), 18035151 (7), 14514692 (6) (see all 38 )
familial mediterranean fever
100.00
638
16614989 (9), 9715731 (8), 16707534 (8), 15621109 (8) (see all 100 )
amyloidosis
53.13
45
15621109 (4), 12687559 (4), 17102945 (3), 15122067 (3) (see all 27 )
tumor necrosis factor receptor-associated periodic syndrome
26.80
12
15243709 (4), 20074469 (2), 9735379 (1), 16273767 (1) (see all 8 )
hereditary periodic fever
26.72
10
9715731 (2), 15071491 (2), 19877056 (1), 17911435 (1) (see all 8 )
periodic syndrome
23.10
10
16707534 (2), 14679589 (2), 19280943 (1), 16466630 (1) (see all 8 )
aa amyloidosis
21.22
14
12105243 (3), 15621109 (2), 15122067 (2), 15071491 (2) (see all 9 )
papa syndrome
20.38
7
19584923 (2), 19768193 (1), 17964261 (1), 16466630 (1) (see all 6 )
behcet disease
18.92
14
17454935 (8), 18609258 (6)
inflammation
17.41
63
17195238 (4), 12966608 (2), 12908875 (2), 9735379 (1) (see all 58 )
About this table Genatlas disease: MEFV Mediterranean fever,excluding hyper-IgD and periodic fever syndrome,including late onset form,mild without amyloidosis or chronic arthritis GeneTests: MEFV Familial Mediterranean Fever Locus Specific Mutation Databases: MEFV Human Gene Mutation Database : MEFV Genetic Association Database: MEFV Human Genome Epidemiology Navigator: MEFV (122 documents)
Medical News for MEFV gene (Possibly Related Articles in
Doctor's Guide )
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Publications for MEFV gene (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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User Feedback 10/334 PubMed articles for MEFV gene (see all 334
): A candidate gene for familial Mediterranean fever. (PubMed id 9288094) 1, 2, 3 , 4 Bernot A.... Grateau G. (1997) Is the Ala138Gly alteration of MEFV gene important for amyloidosis? (PubMed id 11139244) 1, 3 , 4 , 6 Akar E.... Akar N. (2001) Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease. (PubMed id 11470495) 1, 3 , 4 , 6 Timmann C.... Horstmann R.D. (2001) Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations. (PubMed id 16378925) 3 , 4 , 6 Medlej-Hashim M....Megarbane A. (2005) The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. (PubMed id 11468188) 1, 3 , 4 Mansfield E.... Kastner D.L. (2001) Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin. (PubMed id 10666224) 1, 3 , 4 Tidow N.... Koeffler H.P. (2000) The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. (PubMed id 10807793) 1, 3 , 4 Centola M.... Kastner D.L. (2000) Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever. (PubMed id 10842288) 1, 3 , 4 Dode C.... Grateau G. (2000) Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus. (PubMed id 11115844) 1, 3 , 4 Papin S.... Amselem S. (2000) Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. (PubMed id 14595024) 1, 3 , 4 Shoham N.G....Kastner D.L. (2003)
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Genome Databases showing MEFV gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing MEFV gene
(According to HUGE )
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Specialized Databases showing MEFV gene (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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GeneDis http://www.tau.ac.il/lifesci/bioinfo/genedis/fmf/fmf.html INFEVERS http://fmf.igh.cnrs.fr/ISSAID/infevers/disease_menu.php?n=1 GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MEFV
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User Feedback Patent Information for MEFV gene: Search GeneIP for patents involving MEFV GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search Services for MEFV gene (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Novus Biologicals ,Epitomics , Sigma-Aldrich , R&D Systems , SABiosciences , Millipore , Abnova , Clones available from OriGene , Sigma-Aldrich , Sino Biological , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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User Feedback Products for MEFV:
Search Tocris compounds for MEFV
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