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MEFV (Mediterranean fever)

Identity

Alias_namesMEF
Alias_symbol (synonym)FMF
TRIM20
HGNC (Hugo) MEFV
LocusID (NCBI) 4210
Atlas_Id 51694
Location 16p13.3  [Link to chromosome band 16p13]
Location_base_pair Starts at 3292028 and ends at 3306627 bp from pter ( according to hg19-Feb_2009)

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

 


External links

Nomenclature
HGNC (Hugo)MEFV   6998
LRG (Locus Reference Genomic)LRG_190
Cards
Entrez_Gene (NCBI)MEFV  4210  Mediterranean fever
AliasesFMF; MEF; TRIM20
GeneCards (Weizmann)MEFV
Ensembl hg19 (Hinxton)ENSG00000103313 [Gene_View]  chr16:3292028-3306627 [Contig_View]  MEFV [Vega]
Ensembl hg38 (Hinxton)ENSG00000103313 [Gene_View]  chr16:3292028-3306627 [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 hg19 (UCSC)MEFV  -     chr16:3292028-3306627 -  16p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MEFV  -     16p13.3   [Description]    (hg38-Dec_2013)
EnsemblMEFV - 16p13.3 [CytoView hg19]  MEFV - 16p13.3 [CytoView hg38]
Mapping of homologs : NCBIMEFV [Mapview hg19]  MEFV [Mapview hg38]
OMIM134610   249100   608107   
Gene and transcription
Genbank (Entrez)AF018080 AK298660 BC101511 BC101537 FJ785717
RefSeq transcript (Entrez)NM_000243 NM_001198536
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_007871 NT_010393 NW_004929400
Consensus coding sequences : CCDS (NCBI)MEFV
Cluster EST : UnigeneHs.632221 [ NCBI ]
CGAP (NCI)Hs.632221
Alternative Splicing GalleryENSG00000103313
Gene ExpressionMEFV [ NCBI-GEO ]   MEFV [ EBI - ARRAY_EXPRESS ]   MEFV [ SEEK ]   MEFV [ MEM ]
Gene Expression Viewer (FireBrowse)MEFV [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4210
GTEX Portal (Tissue expression)MEFV
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    ConA-like_dom    DAPIN    DEATH-like_dom    PRY    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)  SPRY (SM00449)  
Conserved Domain (NCBI)MEFV
DMDM Disease mutations4210
Blocks (Seattle)MEFV
PDB (SRS)2MPC    2WL1    4CG4   
PDB (PDBSum)2MPC    2WL1    4CG4   
PDB (IMB)2MPC    2WL1    4CG4   
PDB (RSDB)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 AtlasENSG00000103313
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  cytoplasm  autophagosome  cytosol  microtubule  microtubule associated complex  inflammatory response  zinc ion binding  positive regulation of autophagy  lamellipodium  cytoplasmic vesicle  negative regulation of interleukin-1 beta production  negative regulation of interleukin-12 production  response to interferon-gamma  negative regulation of inflammatory response  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  cytoplasm  autophagosome  cytosol  microtubule  microtubule associated complex  inflammatory response  zinc ion binding  positive regulation of autophagy  lamellipodium  cytoplasmic vesicle  negative regulation of interleukin-1 beta production  negative regulation of interleukin-12 production  response to interferon-gamma  negative regulation of inflammatory response  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
HOVERGENO15553
HOGENOMO15553
Homologs : HomoloGeneMEFV
Homology/Alignments : Family Browser (UCSC)MEFV
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMEFV [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MEFV
dbVarMEFV
ClinVarMEFV
1000_GenomesMEFV 
Exome Variant ServerMEFV
ExAC (Exome Aggregation Consortium)MEFV (select the gene name)
Genetic variants : HAPMAP4210
Genomic Variants (DGV)MEFV [DGVbeta]
DECIPHER (Syndromes)16:3292028-3306627  ENSG00000103313
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]  
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] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM134610    249100    608107   
Orphanet703    920    21950   
MedgenMEFV
Genetic Testing Registry MEFV
NextProtO15553 [Medical]
TSGene4210
GENETestsMEFV
Huge Navigator MEFV [HugePedia]
snp3D : Map Gene to Disease4210
BioCentury BCIQMEFV
ClinGenMEFV
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4210
Chemical/Pharm GKB GenePA30736
Clinical trialMEFV
Miscellaneous
canSAR (ICR)MEFV (select the gene name)
Probes
Litterature
PubMed325 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMEFV
EVEXMEFV
GoPubMedMEFV
iHOPMEFV
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:43:16 CET 2016

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