Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: MEFV (MEFV innate immuity regulator, pyrin) Homo sapiens
Analyze
Symbol: MEFV
Name: MEFV innate immuity regulator, pyrin
Description: Exhibits actin binding activity and identical protein binding activity. Involved in several processes, including negative regulation of NLRP3 inflammasome complex assembly; negative regulation of cytokine production; and positive regulation of cellular metabolic process. Localizes to the cytosol; microtubule associated complex; and nucleoplasm. Implicated in Henoch-Schoenlein purpura; asthma; familial Mediterranean fever; hematologic cancer (multiple); and lung disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FMF; marenostrin; Mediterranean fever; MEF; MEFV, pyrin innate immunity regulator; MGC126560; MGC126586; pyrin; TRIM20
Orthologs:
Mus musculus (house mouse) : Mefv (Mediterranean fever)  MGI  Alliance
Rattus norvegicus (Norway rat) : Mefv (MEFV innate immuity regulator, pyrin)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Mefv (MEFV innate immuity regulator, pyrin)
Pan paniscus (bonobo/pygmy chimpanzee) : MEFV (MEFV innate immuity regulator, pyrin)
Canis lupus familiaris (dog) : MEFV (MEFV innate immuity regulator, pyrin)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Mefv (MEFV innate immuity regulator, pyrin)
Sus scrofa (pig) : MEFV (MEFV innate immuity regulator, pyrin)
Chlorocebus sabaeus (green monkey) : MEFV (MEFV innate immuity regulator, pyrin)
Heterocephalus glaber (naked mole-rat) : Mefv (MEFV innate immuity regulator, pyrin)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl163,242,028 - 3,256,627 (-)Ensembl
GRCh38163,242,028 - 3,256,776 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37163,292,028 - 3,306,648 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36163,232,029 - 3,246,628 (-)NCBINCBI36hg18NCBI36
Build 34163,232,028 - 3,246,628NCBI
Celera163,497,690 - 3,512,281 (-)NCBI
Cytogenetic Map16p13.3NCBI
HuRef163,261,626 - 3,276,174 (-)NCBIHuRef
CHM1_1163,291,965 - 3,306,560 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on MEFV
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 737570
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2020-02-04
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.