AutismKB 2.0

Annotation Details for MEFV


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MEFV ( FMF,MEF,MGC126560,MGC126586,TRIM20 )
Gene Full Name: Mediterranean fever
Band: 16p13.3
Quick LinksEntrez ID:4210; OMIM: 608107; Uniprot ID:MEFV_HUMAN; ENSEMBL ID: ENSG00000103313; HGNC ID: 6998
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001726IEA-ruffle-
GO:0005634IDA-nucleus11115844
GO:0005737IDA-cytoplasm26347139
GO:0005776IEA-autophagosome-
GO:0005829TAS-cytosol-
GO:0005874IEA-microtubule-
GO:0005875IDA-microtubule associated complex11468188
GO:0030027IEA-lamellipodium-
GO:0031410IEA-cytoplasmic vesicle-
GO ID Evidence Qualifier GO_term References
GO:0003779IDA-actin binding11468188
GO:0005515IPI-protein binding25127057
GO:0008270NAS-zinc ion binding11115844
GO ID Evidence Qualifier GO_term References
GO:0006954IDA-inflammatory response11468188
GO:0010508IDA-positive regulation of autophagy26347139
GO:0032691IMP-negative regulation of interleukin-1 beta production20041150
GO:0032695IMP-negative regulation of interleukin-12 production20041150
GO:0034341IDA-response to interferon-gamma26347139
GO:0050728IMP-negative regulation of inflammatory response16403826
GO:0071641IMP-negative regulation of macrophage inflammatory protein 1 alpha production20041150
GO:1900016IMP-negative regulation of cytokine production involved in inflammatory response26347139
GO:1900226IMP-negative regulation of NLRP3 inflammasome complex assembly26347139
GO:2001056IDA-positive regulation of cysteine-type endopeptidase activity19158676
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
COG5MEFV11037410782044 Two-hybrid
COG5MEFV11572910782044 Two-hybrid
PYCARDMEFV11037411498534 Affinity Capture-Western; Two-hybrid
PYCARDMEFV11887611498534 Affinity Capture-Western; Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
MEFVrs28940577 Gene overview in AlzGene
No data
No data
Animal Model Top
  • MGI ID: MGI:1859396
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved