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

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: mouse all
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Genomic context

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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Molecular analyses of MEFV gene mutation variants in Turkish population.
Title: Molecular analyses of MEFV gene mutation variants in Turkish population.
The significance of carrying MEFV variants in symptomatic and asymptomatic individuals.
Title: The significance of carrying MEFV variants in symptomatic and asymptomatic individuals.
MEFV variants are a predisposing factor for generalized pustular psoriasis.
Title: MEFV variants are a predisposing factor for generalized pustular psoriasis.
The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases.
Title: The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases.
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.
A dominant pathogenic MEFV mutation causes atypical pyrin-associated periodic syndromes.
Title: A dominant pathogenic MEFV mutation causes atypical pyrin-associated periodic syndromes.
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

Associated conditions

Description	Tests
Acute febrile neutrophilic dermatosis MedGen: C0085077 OMIM: 608068 GeneReviews: Not available	Compare labs
Familial Mediterranean fever MedGen: C0031069 OMIM: 249100 GeneReviews: Familial Mediterranean Fever	Compare labs
Familial Mediterranean fever, autosomal dominant MedGen: C1851347 OMIM: 134610 GeneReviews: Familial Mediterranean Fever	Compare labs

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L17688 (e-PCR)
- UniSTS:74509

GDB:434012 (e-PCR)
- UniSTS:157204

L17705 (e-PCR)
- UniSTS:66091

D8S2279 (e-PCR)
- UniSTS:473907

GDB:314949 (e-PCR)
- UniSTS:156503

D15S1477 (e-PCR)
- UniSTS:474482

D11S3114 (e-PCR)
- UniSTS:152207

L17877 (e-PCR)
- UniSTS:61334

D16S3082 (e-PCR)
- UniSTS:33443

L17971 (e-PCR)
- UniSTS:43966

D16S3070 (e-PCR)
- UniSTS:24815

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

NG_007871.1 RefSeqGene

Range

5001..19600

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_190

mRNA and Protein(s)

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
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