Seroatlas · Human Serome Atlas

MEFV

Pyrin

Also known as: FMF, MEF, MEFV_HUMAN, TRIM20

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O15553
Gene
MEFV
Ensembl
ENSG00000103313
Chromosome
16
Canonical length
781 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Plasma membrane
Quaternary structure
Homotrimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

781 residues, UniProt reviewed canonical sequence.

>O15553|MEFV
     1  MAKTPSDHLL STLEELVPYD FEKFKFKLQN TSVQKEHSRI PRSQIQRARP VKMATLLVTY
    61  YGEEYAVQLT LQVLRAINQR LLAEELHRAA IQEYSTQENG TDDSAASSSL GENKPRSLKT
   121  PDHPEGNEGN GPRPYGGGAA SLRCSQPEAG RGLSRKPLSK RREKASEGLD AQGKPRTRSP
   181  ALPGGRSPGP CRALEGGQAE VRLRRNASSA GRLQGLAGGA PGQKECRPFE VYLPSGKMRP
   241  RSLEVTISTG EKAPANPEIL LTLEEKTAAN LDSATEPRAR PTPDGGASAD LKEGPGNPEH
   301  SVTGRPPDTA ASPRCHAQEG DPVDGTCVRD SCSFPEAVSG HPQASGSRSP GCPRCQDSHE
   361  RKSPGSLSPQ PLPQCKRHLK QVQLLFCEDH DEPICLICSL SQEHQGHRVR PIEEVALEHK
   421  KKIQKQLEHL KKLRKSGEEQ RSYGEEKAVS FLKQTEALKQ RVQRKLEQVY YFLEQQEHFF
   481  VASLEDVGQM VGQIRKAYDT RVSQDIALLD ALIGELEAKE CQSEWELLQD IGDILHRAKT
   541  VPVPEKWTTP QEIKQKIQLL HQKSEFVEKS TKYFSETLRS EMEMFNVPEL IGAQAHAVNV
   601  ILDAETAYPN LIFSDDLKSV RLGNKWERLP DGPQRFDSCI IVLGSPSFLS GRRYWEVEVG
   661  DKTAWILGAC KTSISRKGNM TLSPENGYWV VIMMKENEYQ ASSVPPTRLL IKEPPKRVGI
   721  FVDYRVGSIS FYNVTARSHI YTFASCSFSG PLQPIFSPGT RDGGKNTAPL TICPVGGQGP
   781  D

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MEFV can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.48
Highest tissue expression
8.5 nTPM

Expression across tissuesHPA

Tissue

  • spleen: 8.5 nTPM
  • appendix: 5.5 nTPM
  • bone marrow: 5.1 nTPM
  • lung: 3.9 nTPM
  • adipose tissue: 2.1 nTPM
  • urinary bladder: 1.4 nTPM

Single-cell type

  • neutrophils: 287 nCPM
  • monocytes: 64 nCPM
  • neutrophil progenitors: 33 nCPM
  • monocyte progenitors: 20 nCPM
  • cdc: 12 nCPM
  • macrophages: 9.7 nCPM

Immune cell

  • neutrophil: 7.6 nTPM
  • non-classical monocyte: 5.6 nTPM
  • intermediate monocyte: 3.2 nTPM
  • classical monocyte: 2.9 nTPM
  • basophil: 2.7 nTPM
  • myeloid DC: 1.5 nTPM

Brain region

  • cerebral cortex: 3 nTPM
  • cerebellum: 2.6 nTPM
  • pons: 2.3 nTPM
  • hypothalamus: 2 nTPM
  • thalamus: 2 nTPM
  • medulla oblongata: 1.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MEFV.

Disease | AllUniProt

Conditions MEFV is implicated in, by any mechanism.

  • Familial Mediterranean fever, autosomal recessive (ARFMF) MIM:249100
  • Familial Mediterranean fever, autosomal dominant (ADFMF) MIM:134610
  • Pyrin-associated autoinflammatory disease (PAAND) MIM:608068

Disease | GeneticClinVar

21 pathogenic / likely-pathogenic of 1,382 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Familial Mediterranean fever
  • Familial Mediterranean fever, autosomal dominant
  • Acute febrile neutrophilic dermatosis
  • Autoinflammatory syndrome
  • MEFV-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.13
gnomAD pLI
0
gnomAD missense Z
-1.72
DepMap mean gene effect
0.01
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MEFV in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MEFV as an antibody target. Whether an autoantibody or antibody against MEFV could matter depends on whether native MEFV is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MEFV is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MEFV as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MEFV. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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