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MEFV (Mediterranean fever)

Identity

Other namesFMF
MEF
TRIM20
HGNC (Hugo) MEFV
LocusID (NCBI) 4210
Location 16p13.3
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

External links

Nomenclature
HGNC (Hugo)MEFV   6998
Cards
Entrez_Gene (NCBI)MEFV  4210  Mediterranean fever
GeneCards (Weizmann)MEFV
Ensembl (Hinxton)ENSG00000103313 [Gene_View]  chr16:3292028-3306627 [Contig_View]  MEFV [Vega]
AceView (NCBI)MEFV
Genatlas (Paris)MEFV
WikiGenes4210
SOURCE (Princeton)NM_000243 NM_001198536
Genomic and cartography
GoldenPath (UCSC)MEFV  -  16p13.3   chr16:3292028-3306627 -  16p13.3   [Description]    (hg19-Feb_2009)
EnsemblMEFV - 16p13.3 [CytoView]
Mapping of homologs : NCBIMEFV [Mapview]
OMIM134610   249100   608107   
Gene and transcription
Genbank (Entrez)AF018080 AK298660 BC101511 BC101537 FJ785717
RefSeq transcript (Entrez)NM_000243 NM_001198536
RefSeq genomic (Entrez)AC_000148 NC_000016 NC_018927 NG_007871 NT_010393 NW_001838341 NW_004929400
Consensus coding sequences : CCDS (NCBI)MEFV
Cluster EST : UnigeneHs.632221 [ NCBI ]
CGAP (NCI)Hs.632221
Alternative Splicing : Fast-db (Paris)GSHG0011569
Alternative Splicing GalleryENSG00000103313
Gene ExpressionMEFV [ NCBI-GEO ]     MEFV [ SEEK ]   MEFV [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15553 (Uniprot)
NextProtO15553  [Medical]
With graphics : InterProO15553
Splice isoforms : SwissVarO15553 (Swissvar)
Domaine pattern : Prosite (Expaxy)B302_SPRY (PS50188)    DAPIN (PS50824)    ZF_BBOX (PS50119)   
Domains : Interpro (EBI)B30.2/SPRY    Butyrophylin    ConA-like_lec_gl_sf    DAPIN    DEATH-like_dom    PRY    SPla/RYanodine_receptor_subgr    SPRY_rcpt    Znf_B-box   
Related proteins : CluSTrO15553
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)  
DMDM Disease mutations4210
Blocks (Seattle)O15553
PDB (SRS)2WL1   
PDB (PDBSum)2WL1   
PDB (IMB)2WL1   
PDB (RSDB)2WL1   
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
InParanoidO15553
Interologous Interaction database O15553
IntegromeDBMEFV
STRING (EMBL)MEFV
Ontologies - Pathways
Ontology : AmiGOactin binding  nucleus  cytosol  microtubule  microtubule associated complex  inflammatory response  zinc ion binding  negative regulation of interleukin-1 beta production  negative regulation of interleukin-12 production  nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway  innate immune response  negative regulation of inflammatory response  negative regulation of macrophage inflammatory protein 1 alpha production  positive regulation of cysteine-type endopeptidase activity  
Ontology : EGO-EBIactin binding  nucleus  cytosol  microtubule  microtubule associated complex  inflammatory response  zinc ion binding  negative regulation of interleukin-1 beta production  negative regulation of interleukin-12 production  nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway  innate immune response  negative regulation of inflammatory response  negative regulation of macrophage inflammatory protein 1 alpha production  positive regulation of cysteine-type endopeptidase activity  
Pathways : KEGGNOD-like receptor signaling pathway   
REACTOMEMEFV
Protein Interaction DatabaseMEFV
Wikipedia pathwaysMEFV
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)MEFV
SNP (GeneSNP Utah)MEFV
SNP : HGBaseMEFV
Genetic variants : HAPMAPMEFV
1000_GenomesMEFV 
ICGC programENSG00000103313 
Somatic Mutations in Cancer : COSMICMEFV 
CONAN: Copy Number AnalysisMEFV 
Mutations and Diseases : HGMDMEFV
OMIM134610    249100    608107   
GENETestsMEFV
Disease Genetic AssociationMEFV
Huge Navigator MEFV [HugePedia]  MEFV [HugeCancerGEM]
Genomic VariantsMEFV  MEFV [DGVbeta]
Exome VariantMEFV
dbVarMEFV
ClinVarMEFV
snp3D : Map Gene to Disease4210
General knowledge
Homologs : HomoloGeneMEFV
Homology/Alignments : Family Browser (UCSC)MEFV
Phylogenetic Trees/Animal Genes : TreeFamMEFV
Chemical/Protein Interactions : CTD4210
Chemical/Pharm GKB GenePA30736
Clinical trialMEFV
Cancer Resource (Charite)ENSG00000103313
Other databases
Probes
Litterature
PubMed270 Pubmed reference(s) in Entrez
CoreMineMEFV
iHOPMEFV
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Apr 18 17:07:20 CEST 2014

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