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MEFV Mediterranean fever [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu19174 NM_000243 Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand 12-14 $279.00
OHu21586 NM_001198536 Homo sapiens Mediterranean fever (MEFV), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu48838 XM_006720879 PREDICTED: Homo sapiens Mediterranean fever (MEFV), transcript variant X1, mRNA. pcDNA3.1+-DYK On-demand 12-14 $279.00
OHu19174C NM_000243 Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA. Customized vector On-demand 12-14 $329.00
OHu21586C NM_001198536 Homo sapiens Mediterranean fever (MEFV), transcript variant 2, mRNA. Customized vector On-demand 7-9 $269.00
OHu48838C XM_006720879 PREDICTED: Homo sapiens Mediterranean fever (MEFV), transcript variant X1, mRNA. Customized vector On-demand 12-14 $329.00

*Business Day

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Gene Symbol MEFV
Entrez Gene ID 4210
Full Name Mediterranean fever
Synonyms FMF, MEF, TRIM20
General protein information
Preferred Names
pyrin
Names
pyrin
marenostrin
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

16

16p13.3

Summary 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].
Disorder

MIM: 608107

Familial Mediterranean fever, AR, 249100 (3); Familial

mRNA Protein Product Sequence Price Select
NM_000243, 188219545 NP_000234, 4557743 pyrin isoform 1 ORF Sequence $750.00
NM_001198536, 309384275 NP_001185465, 309384276 pyrin isoform 2 ORF Sequence $550.00
XM_006720879, 578828074 XP_006720942, 578828075 pyrin isoform X1 ORF Sequence $750.00
KEGG
hsa04621NOD-like receptor signaling pathway
WikiPathways
WP1433NOD pathway
Reactome
REACT_6802Innate Immune System
REACT_6900Immune System
REACT_75913Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
REACT_75900Inflammasomes
REACT_75808The NLRP3 inflammasome
Homo sapiens (human)MEFVNP_000234.1
Pan troglodytes (chimpanzee)MEFVXP_523280.3
Macaca mulatta (Rhesus monkey)MEFVXP_001092338.1
Canis lupus familiaris (dog)MEFVXP_547161.4
Bos taurus (cattle)LOC529195XP_002697924.3
Mus musculus (house mouse)MefvNP_001155263.1
Rattus norvegicus (Norway rat)MefvNP_113822.1
Process
IDNameEvidence
GO:0006954inflammatory responseIDA
GO:0032691negative regulation of interleukin-1 beta productionIMP
GO:0032695negative regulation of interleukin-12 productionIMP
GO:0035872nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayTAS
GO:0045087innate immune responseTAS
GO:0050728negative regulation of inflammatory responseIMP
GO:0071641negative regulation of macrophage inflammatory protein 1 alpha productionIMP
GO:2001056positive regulation of cysteine-type endopeptidase activityIDA
Component
IDNameEvidence
GO:0001726ruffleIEA
GO:0005634nucleusIDA
GO:0005829cytosolTAS
GO:0005874microtubuleIEA
GO:0005875microtubule associated complexIDA
GO:0030027lamellipodiumIEA
Function
IDNameEvidence
GO:0003779actin bindingIDA
GO:0008270zinc ion bindingNAS
GeneCards MEFV
UniProt O15553, D2DTW2
Vega OTTHUMG00000129324
MIM 608107
Ensembl ENSG00000103313
HGNC 6998
HPRD 02012

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interactant

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