MEFV Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | MEFV |
| Official Name | MEFV innate immuity regulator, pyrin [Source:HGNC Symbol;Acc:HGNC:6998] |
| Ensembl ID | ENSG00000103313 |
| Bio databases IDs | |
| Aliases | MEFV innate immuity regulator, pyrin, marenostrin |
| Synonyms | FMF, LOC102552366, Mediterranean fever, MEF, MEFV innate immunity regulator, pyrin, PAAND, PYRIN, TRIM20 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MEFV often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PAAD/DAPIN/Pyrin domain
- SPRY domain
- coiled-coil domain
- protein binding
- identical protein binding
- B30.2 domain
- associated with SPRY domains
- B-box-type zinc finger superfamily
- actin binding
- B-box zinc finger
- Box B domain
- Death Domain Superfamily of protein-protein interaction domains
- SPRY-associated domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- anemia
- Alzheimer disease
- autoinflammatory disorder
- autosomal dominant familial Mediterranean fever
- familial Mediterranean fever
- splenomegaly
- autosomal recessive familial Mediterranean fever
- rheumatoid arthritis
- Sweet syndrome
- MOG antibody disease
role in cell
- activation in
- cell death
- apoptosis
- survival
- binding in
- accumulation
- degradation in
- pyroptosis
- autophagy by
- processing in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- perinuclear region
- peripheral lamellae
- Plasma Membrane
- microtubules
- cytosol
- membrane ruffles
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MEFV gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to interferon-gamma
- negative regulation of inflammatory response
- positive regulation of inflammatory response
- negative regulation of interleukin-1 beta production
- negative regulation of cytokine production involved in inflammatory response
- negative regulation of NLRP3 inflammasome complex assembly
- pattern recognition receptor signaling pathway
- positive regulation of autophagy
- inflammatory response
- negative regulation of macrophage inflammatory protein 1 alpha production
- innate immune response
- pyroptosis
- regulation of gene expression
- negative regulation of interleukin-12 production
- regulation of interleukin-1 beta production
- positive regulation of cysteine-type endopeptidase activity
- positive regulation of interleukin-1 beta production
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- ruffle
- cytoplasmic vesicle
- cytosol
- autophagic vacuole
- microtubule associated complex
- lamellipodium
- microtubule
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- zinc ion binding
- protein binding
- actin binding