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FLASH GENE

Symbol

MEFV

contributors: mct/npt - updated : 11-07-2018

HGNC name	Mediterranean fever
HGNC id	6998

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease
Location	16p13.3      Physical location : 3.292.027 - 3.306.627
Synonym name	marenostrin
	pyrin
Synonym symbol(s)	MRST, MEF, FMF, TRIM20

DNA

TYPE	virus associated
STRUCTURE	14.60 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

Map	pter - HBAP1 - D16S283 - D16S94 - D16S291 - D16S3024 ,D16S246 ,D16S3124 - D16S3134 ,D16S3084 - D16S468 /D16S3070 - MMP25 - D16S3082 - [ZNF205 - ZNF213 - D16S3408 - D16S3405 - D16S3404 - D16S3370 - ZNF206 - D16S2617 - OR1F1 ] - OR1F2P - ZNF200 - MEFV - D16S3373 -D16S3275 - D16S3376 - ZNF174 - D16S475 - D16S3382 - DNASE1 - D16S2622 - RSTS - D16S3388 - D16S523 - D16S510 ,D16S423 - D16S2616 - cen
Authors	Akarsu (97), French FMF consortium (97), International FMF Consortium (97), Balow (97), Bernot (98), Deng (98), Centola (98)
Text	[TRKPR@ ]

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000243 10 - 3507 NP_000234 86.4 781 cytoplasmic Papin, Bernot (1998) variant 2 - splicing 1700 isoform 2 63 570 leukocytes Papin (2000) also called MEFV-dr

EXPRESSION

Type	restricted

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive male system testis

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective bone

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic granulocyte

cell lineage	myeloid precursors
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal RING zinc finger domain (PYRIN domain )
	followed by one B box and an alpha-helical coiled-coil domain,
	the so-called tripartite motif (TRIM) characteristic of the B box family of proteins and mediating the formation of multimeric protein complexes
	one DAPIN domain
	and a B30.2-like (RFP) globular domain at the C terminus
	a PRYSPRY domain mediating diverse functions by high-affinity binding to their target through a canonical binding interface formed by six antibody-like VLs

HOMOLOGY

interspecies

homolog to murine Mefv

intraspecies

homolog to Ro autoantigen ret finger proteins and butyrophilin (belonging to B boxfamily)

Homologene

FAMILY

B box family, RBCC (TRIM family)

CATEGORY

immunity/defense

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule
	intracellular,nucleus

basic FUNCTION	playing a role of inflammatory response and involved in protein-protein interactions
	probably controls the inflammatory response in myelomonocytic cells at the level of the cytoskeleton
	organization
	thought to be involved in regulating innate immunity (Grandemange 2009)
	modulates the apoptotic response to oxidative stress mediated by SIVA1 (Balci-Peynircioglu 2008)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

immunity/defense

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	PSTPIP1 (binding correlated with PSTPIP1 phosphorylation status)
	also interacts with SIVA1, a pro-apoptotic protein first identified for its interaction with the cytosolic tail of CD27, a TNF family receptor (interaction involves the C-terminal B30.2/rfp/SRPY domain of pyrin and exon 1 of SIVA1) (Balci-Peynircioglu 2008)
	MEFV and TRIM21 directly bind their respective cargo and recruit autophagic machinery to execute degradation, and MEFV targets the inflammasome components, including NLRP3, NLRP1, and pro-caspase 1, for autophagic degradation

cell & other

REGULATION

Other

first auto-inflammatory gene regulated by nonsense-mediated decay (NMD) pathways in both a cell- and transcript-specific manner (Grandemange 2009)

ASSOCIATED DISORDERS

corresponding disease(s)

MEFV

related resource

INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations Familial Mediterranean Fever at GeneDis

Susceptibility

to Behcet's disease to Fibromyalgia syndrome (FMS) to systemic onset juvenile idiopathic arthritis

Variant & Polymorphism other	increasing the risk of Behcet's disease
	heterozygous for rare missense variants of this gene may be predisposed to FMS, possibly triggered by environmental factors (Feng 2009)
	a significantly higher frequency of MEFV mutations systemic onset juvenile idiopathic arthritis (Ayaz 2009)

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed immunology     the SIVA1-MEFV interaction may be a potential target for future therapeutic strategies

ANIMAL & CELL MODELS