Property Summary

NCBI Gene PubMed Count 331
Grant Count 158
R01 Count 106
Funding $12,631,539.74
PubMed Score 909.51
PubTator Score 1348.88

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis 2.000 0.000

Synonym

Accession O15553 D3DUC0 F5H0Q3 Q3MJ84 Q96PN4 Q96PN5
Symbols FMF
MEF
TRIM20

Gene

PDB

2MPC   2WL1   4CG4  

Gene RIF (358)

PMID Text
27228648 Most of the very early-onset patients were homozygous for M694V mutations, tended to have more severe symptoms, required relatively high doses of colchicine to control their disease, and were diagnosed after a significant delay.
27053370 When compared with the control group, a lower prevalence of the MEFV gene mutation carrier was found in sarcoidosis patients but this was not statistically significant.
26486615 50% of the heterozygous MEFV mutation carriers exhibited elevated S100A12 levels, supporting previous observations that S100 molecules are very sensitive biomarkers of subclinical inflammation.
26399837 Found a higher than expected carrier rate of MEFV gene mutations in populations from central/southeastern European countries. 40% of detected carriers carry the K695R mutation.
26360812 Most patients presenting with PFAPA syndrome have heterozygous MEFV gene mutations.
26347139 TRIM20 and TRIM21 mediate precision autophagy, controlling the hub signaling machineries and key factors, inflammasome and type I interferon, directing cardinal innate immunity response systems in humans.
26176758 MEFV mutations M694V and M680I are associated with Behcet's disease. [meta-analysis]
26123310 This is the first report of non-transmitted, acquired familial Mediterranean fever, associated with a Janus Kinase 2 driven clonal expansion of a somatic Mediterranean fever gene exon 10 mutation.
26005881 Patients with typical characteristics of FMF, with some rare mutations (A744S, P369S) should be treated in the same manner as patients with a common mutation.
26003477 Identification of rare mutations in the MEFV gene in a Turkish population.
More...

AA Sequence

MAKTPSDHLLSTLEELVPYDFEKFKFKLQNTSVQKEHSRIPRSQIQRARPVKMATLLVTYYGEEYAVQLT      1 - 70
LQVLRAINQRLLAEELHRAAIQEYSTQENGTDDSAASSSLGENKPRSLKTPDHPEGNEGNGPRPYGGGAA     71 - 140
SLRCSQPEAGRGLSRKPLSKRREKASEGLDAQGKPRTRSPALPGGRSPGPCRALEGGQAEVRLRRNASSA    141 - 210
GRLQGLAGGAPGQKECRPFEVYLPSGKMRPRSLEVTISTGEKAPANPEILLTLEEKTAANLDSATEPRAR    211 - 280
PTPDGGASADLKEGPGNPEHSVTGRPPDTAASPRCHAQEGDPVDGTCVRDSCSFPEAVSGHPQASGSRSP    281 - 350
GCPRCQDSHERKSPGSLSPQPLPQCKRHLKQVQLLFCEDHDEPICLICSLSQEHQGHRVRPIEEVALEHK    351 - 420
KKIQKQLEHLKKLRKSGEEQRSYGEEKAVSFLKQTEALKQRVQRKLEQVYYFLEQQEHFFVASLEDVGQM    421 - 490
VGQIRKAYDTRVSQDIALLDALIGELEAKECQSEWELLQDIGDILHRAKTVPVPEKWTTPQEIKQKIQLL    491 - 560
HQKSEFVEKSTKYFSETLRSEMEMFNVPELIGAQAHAVNVILDAETAYPNLIFSDDLKSVRLGNKWERLP    561 - 630
DGPQRFDSCIIVLGSPSFLSGRRYWEVEVGDKTAWILGACKTSISRKGNMTLSPENGYWVVIMMKENEYQ    631 - 700
ASSVPPTRLLIKEPPKRVGIFVDYRVGSISFYNVTARSHIYTFASCSFSGPLQPIFSPGTRDGGKNTAPL    701 - 770
TICPVGGQGPD                                                               771 - 781
//

Text Mined References (335)

PMID Year Title
27228648 Update on Auto-Inflammatory Diseases and Familial Mediterranean Fever.
27066000 2016 Update on Pyrin Functions and Mechanisms of Familial Mediterranean Fever.
27053370 2016 Prevalence and significance of MEFV gene mutations in patients with sarcoidosis.
26486615 Increased serum concentrations of neutrophil-derived protein S100A12 in heterozygous carriers of MEFV mutations.
26399837 The carrier rate and spectrum of MEFV gene mutations in central and southeastern European populations.
26360812 2016 Could familial Mediterranean fever gene mutations be related to PFAPA syndrome?
26347139 2015 TRIM-mediated precision autophagy targets cytoplasmic regulators of innate immunity.
26176758 2015 Association between MEFV Mutations M694V and M680I and Behçet's Disease: A Meta-Analysis.
26123310 2015 Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis.
26005881 Familial Mediterranean fever with a single MEFV mutation: comparison of rare and common mutations in a Turkish paediatric cohort.
More...