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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MEFV
MEFV innate immunity regulator, pyrin
Chromosome 16 Β· 16p13.3
NCBI Gene: 4210Ensembl: ENSG00000103313.15HGNC: HGNC:6998UniProt: D2DTW2
465PubMed Papers
23Diseases
0Drugs
21Pathogenic Variants
RESEARCH IMPACT
Highly Studied
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleusnegative regulation of inflammatory responseactin bindingnegative regulation of macrophage inflammatory protein 1 alpha productionfamilial Mediterranean feverautosomal recessive familial Mediterranean feversweet syndromeautoinflammatory syndrome
✦AI Summary

MEFV encodes pyrin, a critical regulator of innate immunity and inflammatory responses. Pyrin functions through dual mechanisms: it serves as a platform organizing autophagic machinery by assembling ULK1, Beclin 1, ATG16L1, and ATG8 family members 123, and acts as an autophagy receptor degrading inflammasome components including CASP1, NLRP1, and NLRP3 to prevent excessive IL-1Ξ² and IL-18 production 123. Conversely, pyrin also positively regulates inflammation by triggering PYCARD/ASC specks formation, caspase-1 activation, and inflammatory cytokine production 456. MEFV mutations cause familial Mediterranean fever (FMF), an autosomal recessive autoinflammatory disease characterized by recurrent fever and serositis, with amyloidosis as the major complication 7. Beyond FMF, MEFV mutations associate with rheumatoid arthritis severity 8, neuro-BehΓ§et's disease 9, palindromic rheumatism 10, and gouty arthritis 11, suggesting pleiotropic roles in various rheumatic conditions. Colchicine remains the primary therapeutic agent for FMF, effectively reducing amyloidosis development and attack frequency 7.

Sources cited
1
Pyrin organizes autophagic machinery and acts as autophagy receptor for inflammasome component degradation
PMID: 16785446
2
Pyrin assembles autophagy components and degrades inflammasome parts to prevent excessive inflammation
PMID: 17431422
3
Pyrin coordinates autophagy target recognition and assembly
PMID: 26347139
4
Pyrin acts as innate immune sensor triggering inflammasome formation
PMID: 16037825
5
Pyrin triggers PYCARD/ASC specks formation and caspase-1 activation
PMID: 27030597
6
Pyrin positively regulates inflammatory cytokine production
PMID: 28835462
7
MEFV mutations cause familial Mediterranean fever; colchicine reduces amyloidosis and attack severity
PMID: 25649364
8
MEFV mutations are more frequent in rheumatoid arthritis patients and correlate with disease severity
PMID: 35480407
9
MEFV mutations are associated with neuro-BehΓ§et's disease and neuro-Sweet disease
PMID: 31682063
10
High frequency of MEFV mutations in palindromic rheumatism
PMID: 22939655
11
MEFV mutations are more prevalent in gouty arthritis patients compared to controls
PMID: 27587294
Disease Associationsβ“˜23
familial Mediterranean feverOpen Targets
0.81Strong
autosomal recessive familial Mediterranean feverOpen Targets
0.81Strong
sweet syndromeOpen Targets
0.79Strong
autoinflammatory syndromeOpen Targets
0.55Moderate
genetic disorderOpen Targets
0.50Moderate
Behcet's syndromeOpen Targets
0.47Moderate
Recurrent feverOpen Targets
0.34Weak
Abnormal cardiovascular system morphologyOpen Targets
0.27Weak
Abnormal heart morphologyOpen Targets
0.27Weak
congenital heart diseaseOpen Targets
0.27Weak
neuronal ceroid lipofuscinosisOpen Targets
0.27Weak
Renal insufficiencyOpen Targets
0.27Weak
diabetes mellitusOpen Targets
0.16Weak
systemic lupus erythematosusOpen Targets
0.14Weak
Neurodevelopmental delayOpen Targets
0.12Weak
autosomal recessive congenital ichthyosisOpen Targets
0.12Weak
dilated cardiomyopathy 1AOpen Targets
0.12Weak
hyperpigmentation of the skinOpen Targets
0.12Weak
Skin vesicleOpen Targets
0.12Weak
von Hippel-Lindau diseaseOpen Targets
0.12Weak
Familial Mediterranean fever, autosomal dominantUniProt
Familial Mediterranean fever, autosomal recessiveUniProt
Pyrin-associated autoinflammatory diseaseUniProt
Pathogenic Variants21
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)Pathogenic
Familial Mediterranean fever|not provided|Acute febrile neutrophilic dermatosis|Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant|Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant;Acute febrile neutrophilic dermatosis|Autoinflammatory syndrome|Familial Mediterranean fever, autosomal dominant|MEFV-related disorder|Inborn genetic diseases|Recurrent fever
β˜…β˜…β˜†β˜†2026β†’ Residue 694
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)Pathogenic
Familial Mediterranean fever|Inborn genetic diseases|not provided|Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant|Familial Mediterranean fever, autosomal dominant|Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant;Acute febrile neutrophilic dermatosis|Autoinflammatory syndrome|MEFV-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 726
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)Pathogenic
Familial Mediterranean fever|not provided|Familial Mediterranean fever, autosomal dominant|Autoinflammatory syndrome|Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant;Acute febrile neutrophilic dermatosis|MEFV-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 680
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)Pathogenic
Familial Mediterranean fever|not provided|Familial Mediterranean fever, autosomal dominant|Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant|Autoinflammatory syndrome|Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant;Acute febrile neutrophilic dermatosis|MEFV-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 694
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)Pathogenic
Familial Mediterranean fever|not provided|Acute febrile neutrophilic dermatosis|Autoinflammatory syndrome|See cases|Familial Mediterranean fever, autosomal dominant|Inborn genetic diseases|Familial Mediterranean fever, autosomal dominant;Familial Mediterranean fever;Acute febrile neutrophilic dermatosis|MEFV-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 680
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)Pathogenic
Familial Mediterranean fever|not provided|Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant|Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant;Acute febrile neutrophilic dermatosis|Autoinflammatory syndrome|Familial Mediterranean fever, autosomal dominant|MEFV-related disorder|Inborn genetic diseases
β˜…β˜…β˜†β˜†2026β†’ Residue 761
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)Pathogenic
Familial Mediterranean fever|not provided|Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant;Acute febrile neutrophilic dermatosis|Familial Mediterranean fever, autosomal dominant
β˜…β˜…β˜†β˜†2026β†’ Residue 653
NM_000243.3(MEFV):c.726C>A (p.Ser242Arg)Pathogenic
Familial Mediterranean fever|Familial Mediterranean fever, autosomal dominant|Acute febrile neutrophilic dermatosis;Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant|Neuronal ceroid lipofuscinosis
β˜…β˜…β˜†β˜†2024β†’ Residue 242
NM_000243.3(MEFV):c.2040G>T (p.Met680Ile)Pathogenic
not provided|Familial Mediterranean fever
β˜…β˜…β˜†β˜†2023β†’ Residue 680
NM_000243.3(MEFV):c.724A>G (p.Ser242Gly)Likely pathogenic
Familial Mediterranean fever
β˜…β˜†β˜†β˜†2024β†’ Residue 242
NM_000243.3(MEFV):c.590del (p.Gly197fs)Likely pathogenic
Familial Mediterranean fever
β˜…β˜†β˜†β˜†2024β†’ Residue 197
NM_000243.3(MEFV):c.1900C>T (p.Gln634Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 634
NM_000243.3(MEFV):c.1506_1507dup (p.Ser503fs)Likely pathogenic
Familial Mediterranean fever
β˜…β˜†β˜†β˜†2022β†’ Residue 503
NM_000243.3(MEFV):c.1510C>T (p.Gln504Ter)Pathogenic
Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant;Acute febrile neutrophilic dermatosis
β˜…β˜†β˜†β˜†2021β†’ Residue 504
NM_000243.3(MEFV):c.1597_1598dup (p.Asp533fs)Likely pathogenic
Familial Mediterranean fever;Familial Mediterranean fever, autosomal dominant;Acute febrile neutrophilic dermatosis
β˜…β˜†β˜†β˜†2021β†’ Residue 533
NM_000243.3(MEFV):c.214C>T (p.Gln72Ter)Pathogenic
Familial Mediterranean fever
β˜…β˜†β˜†β˜†2019β†’ Residue 72
NM_000243.3(MEFV):c.265del (p.Ala89fs)Pathogenic
Familial Mediterranean fever
β˜…β˜†β˜†β˜†2019β†’ Residue 89
NM_000243.3(MEFV):c.1321C>T (p.Arg441Ter)Likely pathogenic
Autoinflammatory syndrome
β˜…β˜†β˜†β˜†2018β†’ Residue 441
NM_000243.3(MEFV):c.2080_2082delinsGTA (p.Met694Val)Pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 694
NM_000243.3(MEFV):c.730G>A (p.Glu244Lys)Pathogenic
Acute febrile neutrophilic dermatosis
β˜†β˜†β˜†β˜†2021β†’ Residue 244
View on ClinVar β†—
Related Genes
PYCARDProtein interaction100%AIM2Protein interaction100%PSTPIP1Protein interaction100%CASP1Protein interaction100%NLRP6Protein interaction98%NAIPProtein interaction98%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
43%
Liver
16%
Ovary
7%
Brain
6%
Heart
4%
Gene Interaction Network
Click a node to explore
MEFVPYCARDAIM2PSTPIP1CASP1NLRP6NAIP
PROTEIN STRUCTURE
Preparing viewer…
PDB9R6Y Β· 1.26 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.15LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.93 [0.75–1.15]
RankingsWhere MEFV stands among ~20K protein-coding genes
  • #578of 20,598
    Most Researched465 Β· top 5%
  • #2,125of 5,498
    Most Pathogenic Variants21
  • #11,924of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedMEFV
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Familial Mediterranean Fever.
PMID: 25649364
Acta Medica (Hradec Kralove) Β· 2014
1.00
2
Correlation genotype-phenotype:
PMID: 35480407
Pan Afr Med J Β· 2022
0.90
3
MEFV M694V mutation has a role in susceptibility to ankylosing spondylitis: A meta-analysis.
PMID: 28800602
PLoS One Β· 2017
0.84
4
MEFV gene mutations in neuro-BehΓ§et's disease and neuro-Sweet disease.
PMID: 31682063
Ann Clin Transl Neurol Β· 2019
0.80
5
[Palindromic rheumatism].
PMID: 22939655
Rev Med Interne Β· 2013
0.70