MEFV
Sign in to saveAlso known as FMF, MEF, TRIM20, Mediterranean fever, MEFV, pyrin innate immunity regulator, MEFV innate immuity regulator, pyrin, PAAND
نام یک ژن در انسان
Gene data
MEFV- Name
- MEFV innate immunity regulator, pyrin
- Type
- protein-coding
- Position
- 3,240,392–3,256,954 (−)
- Aliases
- FMF, MEF, PAAND, TRIM20
- Ensembl
- ENSG00000103313
- RefSeq RNA
- NM_000243.3, NM_001198536.2
- RefSeq protein
- NP_000234.1, NP_001185465.2
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].
Gene Ontology
Biological process
pattern recognition receptor signaling pathwayinflammatory responseregulation of gene expressionpositive regulation of autophagyregulation of interleukin-1 beta productionnegative regulation of interleukin-1 beta productionnegative regulation of interleukin-12 productionpositive regulation of interleukin-1 beta production
Molecular function
Pathways
NOD-like receptor signaling pathway - Homo sapiens (human)Yersinia infection - Homo sapiens (human)DiseaseInnate Immune SystemImmune SystemNucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathwaysInfectious diseaseInflammasomesThe NLRP3 inflammasomeLeishmania infection
via MyGene.info
Gene · Ensembl
MEFV innate immunity regulator, pyrin
- Symbol
- MEFV
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 16:3,240,392-3,256,954
- Strand
- Reverse (−)
- Assembly
- GRCh38
View on Ensembl →
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 32441
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/4210
- genomic end
- 3256633
- genomic start
- 3242027
- chromosome
- human chromosome 16
- cytogenetic location
- 16p13.3
- genetic association
- febrile neutrophilic dermatosis
Sources (7)
via Wikidata · CC0