full name
MEFV, pyrin innate immunity regulator

synonyms
FMF, MEF, TRIM20, MEFV, ENSG00000103313

HGNC
HGNC:6998

Entrez Gene
Gene:4210

ENSEMBL
ENSG00000103313

location
chr: 16
start: 3292028
stop: 3306648
strand: -

OMIM
OMIM:608107: MEFV (Autosomal dominant inheritance)
OMIM:134610: Familial Mediterranean fever, AD
OMIM:249100: Familial Mediterranean fever, AR

transcripts
ENST00000541159.1
ENST00000219596.1

pathways
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Inflammasomes [NCBI:1269253] [REACTOME:R-HSA-622312] [PUBMED:20303873] [PUBMED:19120479]
Innate Immune System [NCBI:1269203] [REACTOME:R-HSA-168249]
NOD-like receptor signaling pathway [NCBI:122191] [KEGG:hsa04621] [PUBMED:25330206] [PUBMED:21575908] [PUBMED:23846113] [PUBMED:26549800] [PUBMED:16493424] [PUBMED:23124073] [PUBMED:24840700] [PUBMED:27291964] [PUBMED:27012466] [PUBMED:24707857] [PUBMED:19767725] [PUBMED:25879280] [PUBMED:23215645] [PUBMED:22819539] [PUBMED:23702978] [PUBMED:20643110] [PUBMED:25879288] [PUBMED:26655628] [PUBMED:25145756] [PUBMED:24718315] [PUBMED:26482951] [PUBMED:25526305] [PUBMED:26121197] [PUBMED:22430786]
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways [NCBI:1269251] [REACTOME:R-HSA-168643] [PUBMED:18928408]
The NLRP3 inflammasome [NCBI:1269254] [REACTOME:R-HSA-844456] [PUBMED:19501527] [PUBMED:20303873]