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Mefv Mediterranean fever [ Mus musculus (house mouse) ]

Gene ID: 54483, updated on 26-Jun-2024

Summary

Official Symbol
Mefvprovided by MGI
Official Full Name
Mediterranean feverprovided by MGI
Primary source
MGI:MGI:1859396
See related
Ensembl:ENSMUSG00000022534 AllianceGenome:MGI:1859396
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
FMF; pyrin; TRIM20
Summary
Predicted to enable actin binding activity; identical protein binding activity; and ubiquitin protein ligase activity. Predicted to be involved in several processes, including negative regulation of NLRP3 inflammasome complex assembly; negative regulation of cytokine production; and pyroptosome complex assembly. Predicted to act upstream of or within immune system process. Predicted to be located in nucleus. Predicted to be part of microtubule associated complex. Predicted to be active in cytosol and nucleoplasm. Is expressed in bladder; female associated reproductive structure; ureter; and urethra of female. Used to study familial Mediterranean fever. Human ortholog(s) of this gene implicated in several diseases, including Henoch-Schoenlein purpura; Sweet syndrome; asthma; familial Mediterranean fever; and hematologic cancer (multiple). Orthologous to human MEFV (MEFV innate immuity regulator, pyrin). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in spleen adult (RPKM 1.2), liver E18 (RPKM 0.4) and 11 other tissues See more
Orthologs
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Genomic context

See Mefv in Genome Data Viewer
Location:
16 A1; 16 2.18 cM
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (3524838..3536073, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (3706974..3718211, complement)

Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 1 subfamily F member 21, pseudogene 1 Neighboring gene RIKEN cDNA 6720473M11 gene Neighboring gene predicted gene, 57819 Neighboring gene STARR-seq mESC enhancer starr_39908 Neighboring gene teratocarcinoma-derived growth factor, pseudogene 1 Neighboring gene predicted gene, 57641

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Clone Names

  • MGC124344, MGC124345

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables actin binding ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables zinc ion binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within immune system process IEA
Inferred from Electronic Annotation
more info
 
involved_in inflammatory response ISO
Inferred from Sequence Orthology
more info
 
involved_in innate immune response IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of NLRP3 inflammasome complex assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of cytokine production involved in inflammatory response ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of inflammatory response ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of interleukin-1 beta production ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of interleukin-12 production ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of macrophage inflammatory protein 1 alpha production ISO
Inferred from Sequence Orthology
more info
 
involved_in pattern recognition receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
involved_in positive regulation of autophagy ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of cysteine-type endopeptidase activity ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of inflammatory response IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of interleukin-1 beta production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of interleukin-1 beta production ISO
Inferred from Sequence Orthology
more info
 
involved_in protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in pyroptosome complex assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in pyroptotic inflammatory response NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of gene expression IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of interleukin-1 beta production ISO
Inferred from Sequence Orthology
more info
 
involved_in response to type II interferon ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
part_of canonical inflammasome complex ISO
Inferred from Sequence Orthology
more info
 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in microtubule NAS
Non-traceable Author Statement
more info
PubMed 
part_of microtubule associated complex ISO
Inferred from Sequence Orthology
more info
 
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
pyrin
Names
familial mediterranean fever
marenostrin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001161790.1NP_001155262.1  pyrin isoform 1

    See identical proteins and their annotated locations for NP_001155262.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC139347, AV372338, BB624975, BC108994, CJ272618
    Consensus CDS
    CCDS49745.1
    UniProtKB/TrEMBL
    Q32MT0
    Related
    ENSMUSP00000097795.3, ENSMUST00000100222.4
    Conserved Domains (2) summary
    cd00021
    Location:472511
    BBOX; B-Box-type zinc finger; zinc binding domain (CHC3H2); often present in combination with other motifs, like RING zinc finger, NHL motif, coiled-coil or RFP domain in functionally unrelated proteins, most likely mediating protein-protein interaction.
    pfam02758
    Location:787
    PYRIN; PAAD/DAPIN/Pyrin domain
  2. NM_001161791.1NP_001155263.1  pyrin isoform 2

    See identical proteins and their annotated locations for NP_001155263.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and has multiple coding region differences compared to variant 1, one of which results in a frameshift. This results in a shorter isoform (2) with a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC139347, AV372338, BB624975, BC108993, CJ272618
    Consensus CDS
    CCDS88864.1
    UniProtKB/TrEMBL
    Q32MT1
    Related
    ENSMUSP00000154892.2, ENSMUST00000229725.2
    Conserved Domains (2) summary
    cd00021
    Location:442481
    BBOX; B-Box-type zinc finger; zinc binding domain (CHC3H2); often present in combination with other motifs, like RING zinc finger, NHL motif, coiled-coil or RFP domain in functionally unrelated proteins, most likely mediating protein-protein interaction.
    pfam02758
    Location:787
    PYRIN; PAAD/DAPIN/Pyrin domain
  3. NM_019453.2NP_062326.2  pyrin isoform 3

    See identical proteins and their annotated locations for NP_062326.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 3, which is shorter than isoform 1.
    Source sequence(s)
    AC139347
    Consensus CDS
    CCDS27907.1
    UniProtKB/Swiss-Prot
    E9QN30, Q9JJ26
    Related
    ENSMUSP00000023180.8, ENSMUST00000023180.15
    Conserved Domains (2) summary
    cd00021
    Location:442481
    BBOX; B-Box-type zinc finger; zinc binding domain (CHC3H2); often present in combination with other motifs, like RING zinc finger, NHL motif, coiled-coil or RFP domain in functionally unrelated proteins, most likely mediating protein-protein interaction.
    pfam02758
    Location:787
    PYRIN; PAAD/DAPIN/Pyrin domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000082.7 Reference GRCm39 C57BL/6J

    Range
    3524838..3536073 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030249188.2XP_030105048.1  pyrin isoform X2

    Conserved Domains (3) summary
    cd08321
    Location:688
    Pyrin_ASC-like; Pyrin Death Domain found in ASC
    pfam17649
    Location:515587
    VPS38; Vacuolar protein sorting 38
    cl00034
    Location:472511
    Bbox_SF; B-box-type zinc finger superfamily
  2. XM_006522361.4XP_006522424.1  pyrin isoform X1

    Conserved Domains (3) summary
    PRK03918
    Location:457645
    PRK03918; DNA double-strand break repair ATPase Rad50
    cd08321
    Location:688
    Pyrin_ASC-like; Pyrin Death Domain found in ASC
    cl00034
    Location:442481
    Bbox_SF; B-box-type zinc finger superfamily
  3. XM_030249189.2XP_030105049.1  pyrin isoform X3

    Conserved Domains (3) summary
    PRK03918
    Location:487675
    PRK03918; DNA double-strand break repair ATPase Rad50
    cd08321
    Location:688
    Pyrin_ASC-like; Pyrin Death Domain found in ASC
    cl00034
    Location:472511
    Bbox_SF; B-box-type zinc finger superfamily