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MEFV Mediterranean fever [ Homo sapiens (human) ]

Gene ID: 4210, updated on 15-Sep-2014
Official Symbol
MEFVprovided by HGNC
Official Full Name
Mediterranean feverprovided by HGNC
Primary source
HGNC:HGNC:6998
See related
Ensembl:ENSG00000103313; HPRD:02012; MIM:608107; Vega:OTTHUMG00000129324
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; 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]
See MEFV in Epigenomics, MapViewer
Location:
16p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 16 NC_000016.10 (3242028..3256648, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (3292028..3306648, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor, family 1, subfamily F, member 2 Neighboring gene zinc finger protein 200 Neighboring gene long intergenic non-protein coding RNA 921 Neighboring gene zinc finger protein 263 Neighboring gene tigger transposable element derived 7

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Inflammasomes, organism-specific biosystem (from REACTOME)
    Inflammasomes, organism-specific biosystemIn contrast to NOD1/2 some NLRPs function as large macromolecular complexes called 'Inflammasomes'. These multiprotein platforms control activation of the cysteinyl aspartate protease caspase-1 and t...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • NOD pathway, organism-specific biosystem (from WikiPathways)
    NOD pathway, organism-specific biosystemThe NOD (nucleotide-binding oligomerization domain) proteins NOD1 and NOD2 have important roles in innate immunity as sensors of microbial components derived from bacterial peptidoglycan. The importa...
  • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
    NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
    NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystem (from REACTOME)
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystemThe innate immune system is the first line of defense against invading microorganisms, a broad specificity response characterized by the recruitment and activation of phagocytes and the release of an...
  • The NLRP3 inflammasome, organism-specific biosystem (from REACTOME)
    The NLRP3 inflammasome, organism-specific biosystemThe NLRP3 (Cryopyrin) inflammasome is currently the best characterized. It consists of NLRP3, ASC (PYCARD) and procaspase-1; CARD8 (Cardinal) is also suggested to be a component. It is activated by a...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC126560, MGC126586

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
lamellipodium IEA
Inferred from Electronic Annotation
more info
 
microtubule IEA
Inferred from Electronic Annotation
more info
 
microtubule associated complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
ruffle IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
pyrin
Names
pyrin
marenostrin

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 

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

mRNA and Protein(s)

  1. NM_000243.2NP_000234.1  pyrin isoform 1

    See proteins identical to 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
    Consensus CDS
    CCDS10498.1
    UniProtKB/Swiss-Prot
    O15553
    Related
    ENSP00000219596, OTTHUMP00000159670, ENST00000219596, OTTHUMT00000251464
    Conserved Domains (4) summary
    cd00021
    Location:373412
    Blast Score: 120
    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.
    cd12900
    Location:596773
    Blast Score: 776
    SPRY_PRY_Btn_TRIMs; PRY/SPRY domain in butyrophilins and butyrophilins-like proteins, pyrin, as well as tripartite motif-containing proteins (TRIM4, 5, 6, 11, 21, 22, 27, 30, 34, 38, 58, 60, 68, 75)
    pfam15186
    Location:403464
    Blast Score: 90
    TEX13; Testis-expressed sequence 13 protein family
    cd08321
    Location:688
    Blast Score: 299
    Pyrin_ASC-like; Pyrin Death Domain found in ASC
  2. NM_001198536.1NP_001185465.1  pyrin isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant 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
    UniProtKB/Swiss-Prot
    O15553
    Conserved Domains (3) summary
    cd00021
    Location:162201
    Blast Score: 107
    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.
    pfam15186
    Location:192253
    Blast Score: 85
    TEX13; Testis-expressed sequence 13 protein family
    cd08321
    Location:688
    Blast Score: 288
    Pyrin_ASC-like; Pyrin Death Domain found in ASC

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10 

    Range
    3242028..3256648
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720879.1XP_006720942.1  

    Conserved Domains (4) summary
    cd00021
    Location:373412
    Blast Score: 120
    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.
    cd12900
    Location:595772
    Blast Score: 776
    SPRY_PRY_Btn_TRIMs; PRY/SPRY domain in butyrophilins and butyrophilins-like proteins, pyrin, as well as tripartite motif-containing proteins (TRIM4, 5, 6, 11, 21, 22, 27, 30, 34, 38, 58, 60, 68, 75)
    cd08321
    Location:688
    Blast Score: 299
    Pyrin_ASC-like; Pyrin Death Domain found in ASC
    cl01483
    Location:410505
    Blast Score: 90
    DUF964; Protein of unknown function (DUF964)

Alternate HuRef

Genomic

  1. AC_000148.1 

    Range
    3261626..3276174
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 

    Range
    3291965..3306560
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)