MEFV

Chr 16p13.3

MEFV innate immunity regulator, pyrin

Aliases:: FMF, TRIM20
MANE:: ENST00000219596.6

OMIM: 608107 ↗NCBI: 4210 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

MEFV · O15553

v62025-08-01

Predicted Aligned Error matrix for MEFV — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

72.3/ 100

Confident

781 residues

Confidence breakdown

Very high(≥ 90)48%
Confident(70–90)15%
Low(50–70)2%
Very low(< 50)35%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Autoinflammatory disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
COVID-19 research
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gastrointestinal epithelial barrier disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Infantile enterocolitis & monogenic inflammatory bowel disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Periodic fever syndromes
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Familial hidradenitis suppurativa
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Proteinuric renal disease

Disease associations (Open Targets)

familial Mediterranean fever
0.81
autosomal recessive familial Mediterranean fever
0.80
sweet syndrome
0.79
autoinflammatory syndrome
0.55
hereditary disease
0.51
Behcet disease
0.48
Recurrent fever
0.34
Renal insufficiency
0.27
Abnormal heart morphology
0.27
neuronal ceroid lipofuscinosis
0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Pyrin

Involved in the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma (PubMed:10807793, PubMed:11468188, PubMed:16037825, PubMed:16785446, PubMed:17431422, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923, PubMed:26347139, PubMed:27030597, PubMed:28835462). Organizes autophagic machinery by serving as a platform for the assembly of ULK1, Beclin 1/BECN1, ATG16L1, and ATG8 family members and recognizes specific autophagy targets, thus coordinating target recognition with assembly of the autophagic apparatus and initiation of autophagy (PubMed:16785446, PubMed:17431422, PubMed:26347139). Acts as an autophagy receptor for the degradation of several inflammasome components, including CASP1, NLRP1 and NLRP3, hence preventing excessive IL1B- and IL18-mediated inflammation (PubMed:16785446, PubMed:17431422, PubMed:26347139). However, it can also have a positive effect in the inflammatory pathway, acting as an innate immune sensor that triggers PYCARD/ASC specks formation, caspase-1 activation, and IL1B and IL18 production (PubMed:16037825, PubMed:27030597, PubMed:28835462). Together with AIM2, also acts as a mediator of pyroptosis, necroptosis and apoptosis (PANoptosis), an integral part of host defense against pathogens, in response to bacterial infection (By similarity). It is required for PSTPIP1-induced PYCARD/ASC oligomerization and inflammasome formation (PubMed:10807793, PubMed:11468188, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923). Recruits PSTPIP1 to inflammasomes, and is required for PSTPIP1 oligomerization (PubMed:10807793, PubMed:11468188, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923)