MEFV (MEFV innate immuity regulator, pyrin)

2010-10-01  

Identity

HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
FMF,MEF,PAAND,TRIM20

Other Information

Locus ID:

NCBI: 4210
MIM: 608107
HGNC: 6998
Ensembl: ENSG00000103313

Variants:

dbSNP: 4210
ClinVar: 4210
TCGA: ENSG00000103313
COSMIC: MEFV

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103313ENST00000219596O15553
ENSG00000103313ENST00000339854F8W6Z2
ENSG00000103313ENST00000536379O15553
ENSG00000103313ENST00000536980F5GZV9
ENSG00000103313ENST00000537682F5H2E5
ENSG00000103313ENST00000538326F5H6N9
ENSG00000103313ENST00000539145D2DTW1
ENSG00000103313ENST00000541159O15553
ENSG00000103313ENST00000542898F5H595
ENSG00000103313ENST00000570511I3L0S7
ENSG00000103313ENST00000572244E3P8H6
ENSG00000103313ENST00000574583D2DTW1
ENSG00000103313ENST00000576315D2DTW1

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
NOD-like receptor signaling pathwayKEGGko04621
NOD-like receptor signaling pathwayKEGGhsa04621
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathwaysREACTOMER-HSA-168643
InflammasomesREACTOMER-HSA-622312
The NLRP3 inflammasomeREACTOMER-HSA-844456

References

Pubmed IDYearTitleCitations
167854462006The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production.114
160378252006Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization.103
187259732008Predominant role of host genetics in controlling the composition of gut microbiota.103
187259732008Predominant role of host genetics in controlling the composition of gut microbiota.103
145950242003Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway.96
156432952005Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study.90
179642612007Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants.86
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
272704012016Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS.81
263471392015TRIM-mediated precision autophagy targets cytoplasmic regulators of innate immunity.72

Citation

Dessen P

MEFV (MEFV innate immuity regulator, pyrin)

Atlas Genet Cytogenet Oncol Haematol. 2010-10-01

Online version: http://atlasgeneticsoncology.org/gene/51694/mefv