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gptkbp:instanceOf
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gptkb:gene
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gptkbp:alternativeName
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Familial Mediterranean fever protein
Marenostrin
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gptkbp:associatedWith
|
gptkb:Familial_Mediterranean_fever
gptkb:TNFRSF1A
NLRP3
MVK
periodic fever syndromes
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gptkbp:biologicalProcess
|
controls apoptosis in immune cells
inhibits inflammasome activation
regulates IL-1β production
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gptkbp:discoveredBy
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International FMF Consortium
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gptkbp:discoveredIn
|
1997
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gptkbp:encodes
|
pyrin protein
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gptkbp:Entrez_Gene_ID
|
4210
rs28940579
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gptkbp:expressedIn
|
monocytes
granulocytes
neutrophils
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gptkbp:fullName
|
Mediterranean fever gene
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gptkbp:function
|
innate immune response
regulation of inflammation
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gptkbp:geneType
|
protein-coding
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gptkbp:HGNC_ID
|
HGNC:6990
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|
https://www.w3.org/2000/01/rdf-schema#label
|
MEFV gene
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gptkbp:inheritance
|
autosomal recessive
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gptkbp:length
|
781 amino acids
15.2 kb
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gptkbp:location
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gptkb:chromosome_16p13.3
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gptkbp:mutationAssociatedWith
|
nonsense
missense
frameshift
exon 10
E148Q
M680I
M694I
M694V
V726A
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gptkbp:numberOfExons
|
10
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gptkbp:OMIM
|
608107
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gptkbp:orthologInMouse
|
Mefv
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gptkbp:proteinFamily
|
B-box domain
coiled-coil domain
B30.2/SPRY domain
PYRIN domain
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gptkbp:referenceGenome
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gptkb:GRCh38
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gptkbp:significance
|
pathogenic variants cause FMF
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gptkbp:UniProtID
|
O15553
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gptkbp:bfsParent
|
gptkb:Familial_Mediterranean_Fever
gptkb:Familial_Mediterranean_fever
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gptkbp:bfsLayer
|
7
|