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MEFV MEFV innate immunity regulator, pyrin [ Homo sapiens (human) ]

Gene ID: 4210, updated on 31-Mar-2024

Summary

Official Symbol
MEFVprovided by HGNC
Official Full Name
MEFV innate immunity regulator, pyrinprovided by HGNC
Primary source
HGNC:HGNC:6998
See related
Ensembl:ENSG00000103313 MIM:608107; AllianceGenome:HGNC:6998
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FMF; MEF; PAAND; TRIM20
Summary
This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]
Expression
Biased expression in appendix (RPKM 3.9), spleen (RPKM 3.2) and 11 other tissues See more
Orthologs
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Genomic context

See MEFV in Genome Data Viewer
Location:
16p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (3242027..3256633, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (3269087..3283689, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (3292027..3306633, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 1 subfamily F member 2 pseudogene Neighboring gene zinc finger protein 200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10315 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10316 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10318 Neighboring gene long intergenic non-protein coding RNA 921 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3332464-3332969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10319 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7131 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:3333980-3334483 Neighboring gene zinc finger protein 263 Neighboring gene tigger transposable element derived 7

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2018-08-16)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2018-08-16)

ClinGen Genome Curation Page

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC126560, MGC126586

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
involved_in inflammatory response IDA
Inferred from Direct Assay
more info
PubMed 
involved_in innate immune response IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of NLRP3 inflammasome complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cytokine production involved in inflammatory response IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of inflammatory response IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of interleukin-1 beta production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of interleukin-12 production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of macrophage inflammatory protein 1 alpha production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in pattern recognition receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
involved_in positive regulation of autophagy IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cysteine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of inflammatory response ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of interleukin-1 beta production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in pyroptosis NAS
Non-traceable Author Statement
more info
PubMed 
involved_in pyroptosome complex assembly IDA
Inferred from Direct Assay
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to type II interferon IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in autophagosome IEA
Inferred from Electronic Annotation
more info
 
part_of canonical inflammasome complex IPI
Inferred from Physical Interaction
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in lamellipodium IEA
Inferred from Electronic Annotation
more info
 
located_in microtubule NAS
Non-traceable Author Statement
more info
PubMed 
part_of microtubule associated complex IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in ruffle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
pyrin
Names
MEFV innate immuity regulator, pyrin
MEFV, pyrin innate immunity regulator
Mediterranean fever
marenostrin

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

Genomic

  1. NG_007871.1 RefSeqGene

    Range
    5001..19600
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_190

mRNA and Protein(s)

  1. NM_000243.3NP_000234.1  pyrin isoform 1

    See identical proteins and their annotated locations for NP_000234.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF018080, AJ003147, AK298660
    Consensus CDS
    CCDS10498.1
    UniProtKB/Swiss-Prot
    D3DUC0, F5H0Q3, O15553, Q3MJ84, Q96PN4, Q96PN5
    Related
    ENSP00000219596.1, ENST00000219596.6
    Conserved Domains (4) summary
    smart00336
    Location:370412
    BBOX; B-Box-type zinc finger
    cd08321
    Location:688
    Pyrin_ASC-like; Pyrin Death Domain found in ASC
    pfam15186
    Location:402464
    TEX13; Testis-expressed sequence 13 protein family
    cd15813
    Location:590773
    SPRY_PRY_TRIM20; PRY/SPRY domain in tripartite motif-binding protein 20 (TRIM20), also known as pyrin
  2. NM_001198536.2NP_001185465.2  pyrin isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon and uses an alternate splice junction at the 5' end of an exon, that causes a frameshift. The resulting isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AF018080, AJ003147, FJ785722, Y14441
    Consensus CDS
    CCDS55981.1
    UniProtKB/TrEMBL
    D2DTW2
    Related
    ENSP00000438711.1, ENST00000541159.5
    Conserved Domains (2) summary
    cd08321
    Location:688
    Pyrin_ASC-like; Pyrin Death Domain found in ASC
    cl00034
    Location:162201
    Bbox_SF; B-box-type zinc finger superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    3242027..3256633 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    3269087..3283689 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)