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

Gene ID: 4210, updated on 4-Nov-2024

Summary

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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

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See MEFV in Genome Data Viewer
Location:
16p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (3242027..3256633, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (3269087..3283689, complement)
RS_2024_09 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Familial Mediterranean fever gene mutations in the inner northern region of Turkey and genotype-phenotype correlation in children. Yilmaz R, et al. J Paediatr Child Health, 2009 Nov. PMID 19845843
  2. [Familial Mediterranean fever as representative autoinflammatory disease]. Yamazaki K, et al. Rinsho Byori, 2009 Apr. PMID 19489440
  3. Clinical and genetic features of familial Mediterranean fever in Japan. Tsuchiya-Suzuki A, et al. J Rheumatol, 2009 Aug. PMID 19531756
  4. Demographic, clinical and mutational characteristics of Turkish familial Mediterranean fever patients: results of a single center in Central Anatolia. Ureten K, et al. Rheumatol Int, 2010 May. PMID 19641922
  5. A population genetics study of the familial Mediterranean fever gene: evidence of balancing selection under an overdominance regime. Fumagalli M, et al. Genes Immun, 2009 Dec. PMID 19675583

See all (465) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Molecular investigation of MEFV gene polymorphisms among patients with familial mediterranean fever-like symptoms.
    Title: Molecular investigation of MEFV gene polymorphisms among patients with familial mediterranean fever-like symptoms.
  2. Heterozygous Pyrin (MEFV) E148Q allele carriers indicate a reduced glaucoma risk for Turkish population: a prospective clinical analysis.
    Title: Heterozygous Pyrin (MEFV) E148Q allele carriers indicate a reduced glaucoma risk for Turkish population: a prospective clinical analysis.
  3. Single Nucleotide Polymorphisms of the MEFV Gene E148Q Are Highly Associated With Disease Phenotype in Crohn's Disease.
    Title: Single Nucleotide Polymorphisms of the MEFV Gene E148Q Are Highly Associated With Disease Phenotype in Crohn's Disease.
  4. Molecular analyses of MEFV gene mutation variants in Turkish population.
    Title: Molecular analyses of MEFV gene mutation variants in Turkish population.
  5. The significance of carrying MEFV variants in symptomatic and asymptomatic individuals.
    Title: The significance of carrying MEFV variants in symptomatic and asymptomatic individuals.
  6. MEFV variants are a predisposing factor for generalized pustular psoriasis.
    Title: MEFV variants are a predisposing factor for generalized pustular psoriasis.
  7. The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases.
    Title: The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases.
  8. Phosphoprotein phosphatase activity positively regulates oligomeric pyrin to trigger inflammasome assembly in phagocytes.
    Title: Phosphoprotein phosphatase activity positively regulates oligomeric pyrin to trigger inflammasome assembly in phagocytes.
  9. A dominant pathogenic MEFV mutation causes atypical pyrin-associated periodic syndromes.
    Title: A dominant pathogenic MEFV mutation causes atypical pyrin-associated periodic syndromes.
  10. Genotype-Phenotype Associations of Children With Familial Mediterranean Fever in a Cohort Consisting of M694V Mutation and Implications for Colchicine-Resistant Disease.
    Title: Genotype-Phenotype Associations of Children With Familial Mediterranean Fever in a Cohort Consisting of M694V Mutation and Implications for Colchicine-Resistant Disease.
Submit: New GeneRIF Correction See all GeneRIFs (359)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 pyroptosome complex assembly IDA
Inferred from Direct Assay
more info
 PubMed 
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 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

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Preferred Names
pyrin
Names
MEFV innate immuity regulator, pyrin
MEFV, pyrin innate immunity regulator
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.

Genomic

  1. NG_007871.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_000243.3 → NP_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:370 → 412
    BBOX; B-Box-type zinc finger
    cd08321
    Location:6 → 88
    Pyrin_ASC-like; Pyrin Death Domain found in ASC
    pfam15186
    Location:402 → 464
    TEX13; Testis-expressed sequence 13 protein family
    cd15813
    Location:590 → 773
    SPRY_PRY_TRIM20; PRY/SPRY domain in tripartite motif-binding protein 20 (TRIM20), also known as pyrin

  2. NM_001198536.2 → NP_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:6 → 88
    Pyrin_ASC-like; Pyrin Death Domain found in ASC
    cl00034
    Location:162 → 201
    Bbox_SF; B-box-type zinc finger superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O15553.1 GenPept UniProtKB/Swiss-Prot:O15553

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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