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MEFV (MEFV innate immuity regulator, pyrin)

Identity

Alias (NCBI)FMF
MEF
PAAND
TRIM20
HGNC (Hugo) MEFV
HGNC Alias symbFMF
TRIM20
HGNC Alias namemarenostrin
HGNC Previous nameMEF
HGNC Previous nameMediterranean fever
 MEFV, pyrin innate immunity regulator
LocusID (NCBI) 4210
Atlas_Id 51694
Location 16p13.3  [Link to chromosome band 16p13]
Location_base_pair Starts at 3242027 and ends at 3256633 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(16;16)(p13;p13) CREBBP/MEFV


External links

Nomenclature
HGNC (Hugo)MEFV   6998
LRG (Locus Reference Genomic)LRG_190
Cards
Entrez_Gene (NCBI)MEFV  4210  MEFV innate immuity regulator, pyrin
AliasesFMF; MEF; PAAND; TRIM20
GeneCards (Weizmann)MEFV
Ensembl hg19 (Hinxton)ENSG00000103313 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000103313 [Gene_View]  ENSG00000103313 [Sequence]  chr16:3242027-3256633 [Contig_View]  MEFV [Vega]
ICGC DataPortalENSG00000103313
TCGA cBioPortalMEFV
AceView (NCBI)MEFV
Genatlas (Paris)MEFV
WikiGenes4210
SOURCE (Princeton)MEFV
Genetics Home Reference (NIH)MEFV
Genomic and cartography
GoldenPath hg38 (UCSC)MEFV  -     chr16:3242027-3256633 -  16p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MEFV  -     16p13.3   [Description]    (hg19-Feb_2009)
GoldenPathMEFV - 16p13.3 [CytoView hg19]  MEFV - 16p13.3 [CytoView hg38]
ImmunoBaseENSG00000103313
genome Data Viewer NCBIMEFV [Mapview hg19]  
OMIM134610   249100   608068   608107   
Gene and transcription
Genbank (Entrez)AF018080 AK298660 BC101511 BC101537 FJ785717
RefSeq transcript (Entrez)NM_000243 NM_001198536
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MEFV
Alternative Splicing GalleryENSG00000103313
Gene ExpressionMEFV [ NCBI-GEO ]   MEFV [ EBI - ARRAY_EXPRESS ]   MEFV [ SEEK ]   MEFV [ MEM ]
Gene Expression Viewer (FireBrowse)MEFV [ Firebrowse - Broad ]
GenevisibleExpression of MEFV in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4210
GTEX Portal (Tissue expression)MEFV
Human Protein AtlasENSG00000103313-MEFV [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15553   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15553  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15553
Splice isoforms : SwissVarO15553
PhosPhoSitePlusO15553
Domaine pattern : Prosite (Expaxy)B302_SPRY (PS50188)    DAPIN (PS50824)    ZF_BBOX (PS50119)   
Domains : Interpro (EBI)B30.2/SPRY    Butyrophylin_SPRY    ConA-like_dom_sf    DAPIN    DEATH-like_dom_sf    PRY    Pyrin    SPRY_dom    Znf_B-box   
Domain families : Pfam (Sanger)PRY (PF13765)    PYRIN (PF02758)    SPRY (PF00622)    zf-B_box (PF00643)   
Domain families : Pfam (NCBI)pfam13765    pfam02758    pfam00622    pfam00643   
Domain families : Smart (EMBL)BBOX (SM00336)  PRY (SM00589)  PYRIN (SM01289)  SPRY (SM00449)  
Conserved Domain (NCBI)MEFV
DMDM Disease mutations4210
Blocks (Seattle)MEFV
PDB (RSDB)2MPC    2WL1    4CG4   
PDB Europe2MPC    2WL1    4CG4   
PDB (PDBSum)2MPC    2WL1    4CG4   
PDB (IMB)2MPC    2WL1    4CG4   
Structural Biology KnowledgeBase2MPC    2WL1    4CG4   
SCOP (Structural Classification of Proteins)2MPC    2WL1    4CG4   
CATH (Classification of proteins structures)2MPC    2WL1    4CG4   
SuperfamilyO15553
Human Protein Atlas [tissue]ENSG00000103313-MEFV [tissue]
Peptide AtlasO15553
HPRD02012
IPIIPI00375378   IPI00007367   IPI01015961   IPI00954961   IPI01014162   IPI01012927   IPI01015551   IPI01012930   IPI01016063   
Protein Interaction databases
DIP (DOE-UCLA)O15553
IntAct (EBI)O15553
FunCoupENSG00000103313
BioGRIDMEFV
STRING (EMBL)MEFV
ZODIACMEFV
Ontologies - Pathways
QuickGOO15553
Ontology : AmiGOruffle  actin binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytoplasm  autophagosome  cytosol  cytosol  cytosol  microtubule  microtubule associated complex  inflammatory response  zinc ion binding  regulation of gene expression  positive regulation of autophagy  protein ubiquitination  lamellipodium  cytoplasmic vesicle  negative regulation of interleukin-1 beta production  negative regulation of interleukin-12 production  response to interferon-gamma  identical protein binding  innate immune response  negative regulation of inflammatory response  ubiquitin protein ligase activity  negative regulation of macrophage inflammatory protein 1 alpha production  negative regulation of cytokine production involved in inflammatory response  negative regulation of NLRP3 inflammasome complex assembly  positive regulation of cysteine-type endopeptidase activity  
Ontology : EGO-EBIruffle  actin binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytoplasm  autophagosome  cytosol  cytosol  cytosol  microtubule  microtubule associated complex  inflammatory response  zinc ion binding  regulation of gene expression  positive regulation of autophagy  protein ubiquitination  lamellipodium  cytoplasmic vesicle  negative regulation of interleukin-1 beta production  negative regulation of interleukin-12 production  response to interferon-gamma  identical protein binding  innate immune response  negative regulation of inflammatory response  ubiquitin protein ligase activity  negative regulation of macrophage inflammatory protein 1 alpha production  negative regulation of cytokine production involved in inflammatory response  negative regulation of NLRP3 inflammasome complex assembly  positive regulation of cysteine-type endopeptidase activity  
Pathways : KEGGNOD-like receptor signaling pathway   
NDEx NetworkMEFV
Atlas of Cancer Signalling NetworkMEFV
Wikipedia pathwaysMEFV
Orthology - Evolution
OrthoDB4210
GeneTree (enSembl)ENSG00000103313
Phylogenetic Trees/Animal Genes : TreeFamMEFV
HOGENOMO15553
Homologs : HomoloGeneMEFV
Homology/Alignments : Family Browser (UCSC)MEFV
Gene fusions - Rearrangements
Fusion : QuiverMEFV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMEFV [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MEFV
dbVarMEFV
ClinVarMEFV
1000_GenomesMEFV 
Exome Variant ServerMEFV
GNOMAD BrowserENSG00000103313
Varsome BrowserMEFV
Genetic variants : HAPMAP4210
Genomic Variants (DGV)MEFV [DGVbeta]
DECIPHERMEFV [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMEFV 
Mutations
ICGC Data PortalMEFV 
TCGA Data PortalMEFV 
Broad Tumor PortalMEFV
OASIS PortalMEFV [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMEFV  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMEFV
Mutations and Diseases : HGMDMEFV
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch MEFV
DgiDB (Drug Gene Interaction Database)MEFV
DoCM (Curated mutations)MEFV (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MEFV (select a term)
intoGenMEFV
Cancer3DMEFV(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM134610    249100    608068    608107   
Orphanet703    920    21950   
DisGeNETMEFV
MedgenMEFV
Genetic Testing Registry MEFV
NextProtO15553 [Medical]
TSGene4210
GENETestsMEFV
Target ValidationMEFV
Huge Navigator MEFV [HugePedia]
snp3D : Map Gene to Disease4210
BioCentury BCIQMEFV
ClinGenMEFV
Clinical trials, drugs, therapy
Protein Interactions : CTD4210
Pharm GKB GenePA30736
Clinical trialMEFV
Miscellaneous
canSAR (ICR)MEFV (select the gene name)
HarmonizomeMEFV
DataMed IndexMEFV
Probes
Litterature
PubMed398 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMEFV
EVEXMEFV
GoPubMedMEFV
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jul 16 15:22:41 CEST 2020

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