Gene table of MEFV : MEFV, pyrin innate immunity regulator

Gene-disease associations table

Disease IDDisease nameSource of annotation with MEFVOMIM linkNumber of associated genesgenes
249100FAMILIAL MEDITERRANEAN FEVERClinVar, OMIM, HUMSAVAR link to OMIM 1MEFV
134610FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANTClinVar, OMIM, HUMSAVAR link to OMIM 1MEFV

Download the gene annotation in CSV format

Annotation of the gene MEFV

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
NOD-like receptor signaling pathwayhsa046216.88
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Innate Immune SystemR-HSA-1682493.17
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathwaysR-HSA-1686437.31
The NLRP3 inflammasomeR-HSA-8444569.4
Immune SystemR-HSA-1682562.37
InflammasomesR-HSA-6223128.89
Associated GO terms for Molecular function
GO termGO IDGO IC
cation bindingGO:00431691.4
transition metal ion bindingGO:00469142.48
cytoskeletal protein bindingGO:00080923.02
ion bindingGO:00431671.36
actin bindingGO:00037793.74
zinc ion bindingGO:00082702.66
protein bindingGO:00055150.46
metal ion bindingGO:00468721.41
bindingGO:00054880.18