• Gene id: 4210

Gene Summary

• Gene Symbol: MEFV   Gene   UCSC   Ensembl
• Aliases: FMF, MEF, TRIM20
• Gene name: MEFV, pyrin innate immunity regulator
• Alternate names: pyrin, Mediterranean fever, marenostrin,
• Gene location: 16p13.3 (3256775: 3242027)     Exons: 10     NC_000016.10
• Gene summary(Entrez): 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, Jul 2008]
• OMIM: 608107

Protein Summary

• Protein general information: O15553  
  • Name: Pyrin (Marenostrin)
  • Length: 781  
  • Mass: 86,444
• Sequence:

  MAKTPSDHLLSTLEELVPYDFEKFKFKLQNTSVQKEHSRIPRSQIQRARPVKMATLLVTYYGEEYAVQLTLQVLR
  AINQRLLAEELHRAAIQEYSTQENGTDDSAASSSLGENKPRSLKTPDHPEGNEGNGPRPYGGGAASLRCSQPEAG
  RGLSRKPLSKRREKASEGLDAQGKPRTRSPALPGGRSPGPCRALEGGQAEVRLRRNASSAGRLQGLAGGAPGQKE
  CRPFEVYLPSGKMRPRSLEVTISTGEKAPANPEILLTLEEKTAANLDSATEPRARPTPDGGASADLKEGPGNPEH
  SVTGRPPDTAASPRCHAQEGDPVDGTCVRDSCSFPEAVSGHPQASGSRSPGCPRCQDSHERKSPGSLSPQPLPQC
  KRHLKQVQLLFCEDHDEPICLICSLSQEHQGHRVRPIEEVALEHKKKIQKQLEHLKKLRKSGEEQRSYGEEKAVS
  FLKQTEALKQRVQRKLEQVYYFLEQQEHFFVASLEDVGQMVGQIRKAYDTRVSQDIALLDALIGELEAKECQSEW
  ELLQDIGDILHRAKTVPVPEKWTTPQEIKQKIQLLHQKSEFVEKSTKYFSETLRSEMEMFNVPELIGAQAHAVNV
  ILDAETAYPNLIFSDDLKSVRLGNKWERLPDGPQRFDSCIIVLGSPSFLSGRRYWEVEVGDKTAWILGACKTSIS
  RKGNMTLSPENGYWVVIMMKENEYQASSVPPTRLLIKEPPKRVGIFVDYRVGSISFYNVTARSHIYTFASCSFSG
  PLQPIFSPGTRDGGKNTAPLTICPVGGQGPD

• Structural information:
  • Protein Domains: Pyrin. (1-92)
    B30.2/SPRY. (580-775)
  • Interpro: IPR001870  IPR003879  IPR013320  IPR004020  IPR011029   IPR006574  IPR028841  IPR003877  IPR000315  
  • Prosite: PS50188 PS50824 PS50119
  • CDD: cd00021
  • PDB: 2MPC 2WL1 4CG4
  • PDBsum: 2MPC 2WL1 4CG4
  • DIP: 41878
  • STRING: ENSP00000219596
• Other Databases: GeneCards:  MEFV  Malacards:  MEFV

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001726	ruffle	IEA	cellular component
GO:0003779	actin binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005776	autophagosome	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005875	microtubule associated complex	IDA	cellular component
GO:0006954	inflammatory response	IDA	biological process
GO:0008270	zinc ion binding	NAS	molecular function
GO:0010508	positive regulation of autophagy	IDA	biological process
GO:0030027	lamellipodium	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0032691	negative regulation of interleukin-1 beta production	IMP	biological process
GO:0032695	negative regulation of interleukin-12 production	IMP	biological process
GO:0034341	response to interferon-gamma	IDA	biological process
GO:0050728	negative regulation of inflammatory response	IMP	biological process
GO:0071641	negative regulation of macrophage inflammatory protein 1 alpha production	IMP	biological process
GO:1900016	negative regulation of cytokine production involved in inflammatory response	IMP	biological process
GO:1900226	negative regulation of NLRP3 inflammasome complex assembly	IMP	biological process
GO:2001056	positive regulation of cysteine-type endopeptidase activity	IDA	biological process
GO:0001726	ruffle	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0003779	actin binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005622	intracellular	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005776	autophagosome	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005875	microtubule associated complex	IDA	cellular component
GO:0006954	inflammatory response	IEA	biological process
GO:0006954	inflammatory response	IDA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008270	zinc ion binding	NAS	molecular function
GO:0010508	positive regulation of autophagy	IDA	biological process
GO:0030027	lamellipodium	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0032691	negative regulation of interleukin-1 beta production	IMP	biological process
GO:0032695	negative regulation of interleukin-12 production	IMP	biological process
GO:0034341	response to interferon-gamma	IDA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0045087	innate immune response	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0050728	negative regulation of inflammatory response	IMP	biological process
GO:0071641	negative regulation of macrophage inflammatory protein 1 alpha production	IMP	biological process
GO:1900016	negative regulation of cytokine production involved in inflammatory response	IMP	biological process
GO:1900226	negative regulation of NLRP3 inflammasome complex assembly	IMP	biological process
GO:2001056	positive regulation of cysteine-type endopeptidase activity	IDA	biological process
GO:0003779	actin binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005875	microtubule associated complex	IDA	cellular component
GO:0006954	inflammatory response	IDA	biological process
GO:0008270	zinc ion binding	NAS	molecular function
GO:0010508	positive regulation of autophagy	IDA	biological process
GO:0032691	negative regulation of interleukin-1 beta production	IMP	biological process
GO:0032695	negative regulation of interleukin-12 production	IMP	biological process
GO:0034341	response to interferon-gamma	IDA	biological process
GO:0050728	negative regulation of inflammatory response	IMP	biological process
GO:0071641	negative regulation of macrophage inflammatory protein 1 alpha production	IMP	biological process
GO:1900016	negative regulation of cytokine production involved in inflammatory response	IMP	biological process
GO:1900226	negative regulation of NLRP3 inflammasome complex assembly	IMP	biological process
GO:2001056	positive regulation of cysteine-type endopeptidase activity	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa00480	Glutathione metabolism
hsa04012	ErbB signaling pathway
hsa04621	NOD-like receptor signaling pathway
hsa05135	Yersinia infection

Diseases

Associated diseases	References
Cancer (meningeal)	GAD: 20406964
Cardiovascular disease	GAD: 19026701
Coronary heart disease	GAD: 19026701
Cystic fibrosis	GAD: 18496034
Arthritis	GAD: 14727057
Asthma	GAD: 18219832
Behcet's disease	GAD: 15903027
Ulcerative colitis	GAD: 19784369
Ulcerative colitis	GAD: 16614989
Rheumatoid arthritis	GAD: 20031469
Multiple sclerosis	GAD: 12700594
Inflammatory bowel disease	GAD: 19132902
Crohn's disease	GAD: 15674370
Amyloidosis	GAD: 19014044
Ankylosing spondylitis	GAD: 18597091
Creutzfeldt-Jakob disease	GAD: 20113338
Alzheimer's disease	GAD: 17090974
Azoospermia	MIK: 20391345
Male factor infertility	MIK: 20391345
Albuminuria	GAD: 19014044
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 20391345
Male infertility	MIK: 20391345
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20391345	Azoospermia, Male infertility	M680I, M694V, M694I, V726A, P369S, and A744S	Turkish	284 (74 infertile men, 155 men diagnosed with familial Mediterranean fever and 55 healthy fertile men)	Male infertiltiy
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq