Details for: MEFV

Gene ID: 4210

Symbol: MEFV

Ensembl ID: ENSG00000103313

Description: MEFV innate immunity regulator, pyrin

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 13.8545
    Cell Significance Index: -2.1600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 8.5750
    Cell Significance Index: -2.1800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 5.6614
    Cell Significance Index: -2.3000
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 5.5167
    Cell Significance Index: 80.1000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 2.4300
    Cell Significance Index: -2.3200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 1.7559
    Cell Significance Index: -2.1700
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.0204
    Cell Significance Index: 18.8600
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.3406
    Cell Significance Index: 4.7800
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 0.3383
    Cell Significance Index: 3.6200
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.2055
    Cell Significance Index: 2.2100
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.1536
    Cell Significance Index: 1.9000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.1152
    Cell Significance Index: 1.6500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.1138
    Cell Significance Index: 6.9800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0444
    Cell Significance Index: 4.3900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0323
    Cell Significance Index: 29.1900
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.0274
    Cell Significance Index: 0.4000
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.0093
    Cell Significance Index: 0.1900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0073
    Cell Significance Index: 1.1900
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.0035
    Cell Significance Index: 0.0300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0018
    Cell Significance Index: 0.3700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0002
    Cell Significance Index: -0.0200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0007
    Cell Significance Index: -1.3800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0007
    Cell Significance Index: -1.3200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0012
    Cell Significance Index: -1.8900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0014
    Cell Significance Index: -1.9100
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0026
    Cell Significance Index: -0.0300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0028
    Cell Significance Index: -2.1500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0029
    Cell Significance Index: -2.1600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0032
    Cell Significance Index: -2.0600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0032
    Cell Significance Index: -0.3300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0034
    Cell Significance Index: -1.8400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0037
    Cell Significance Index: -1.0700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0040
    Cell Significance Index: -2.2800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0040
    Cell Significance Index: -1.4200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0048
    Cell Significance Index: -2.2000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0050
    Cell Significance Index: -0.9000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0067
    Cell Significance Index: -1.3300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0071
    Cell Significance Index: -0.2500
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0081
    Cell Significance Index: -0.3500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0089
    Cell Significance Index: -0.4500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0108
    Cell Significance Index: -1.8500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0113
    Cell Significance Index: -0.5900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0119
    Cell Significance Index: -1.6400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0121
    Cell Significance Index: -1.7600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0140
    Cell Significance Index: -1.6000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0145
    Cell Significance Index: -1.7800
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: -0.0148
    Cell Significance Index: -0.1200
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0168
    Cell Significance Index: -0.6900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0173
    Cell Significance Index: -0.7900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0190
    Cell Significance Index: -2.4600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0192
    Cell Significance Index: -2.0000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0208
    Cell Significance Index: -2.4500
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: -0.0226
    Cell Significance Index: -0.3000
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.0240
    Cell Significance Index: -0.4700
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.0246
    Cell Significance Index: -0.3600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0253
    Cell Significance Index: -1.9400
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0258
    Cell Significance Index: -0.2100
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: -0.0279
    Cell Significance Index: -0.2600
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.0301
    Cell Significance Index: -0.3300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0307
    Cell Significance Index: -0.8200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0323
    Cell Significance Index: -0.9300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0343
    Cell Significance Index: -2.2100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0344
    Cell Significance Index: -0.9600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0345
    Cell Significance Index: -2.3200
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0359
    Cell Significance Index: -0.8700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0385
    Cell Significance Index: -1.8100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0413
    Cell Significance Index: -2.3200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0414
    Cell Significance Index: -2.1500
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: -0.0415
    Cell Significance Index: -0.4900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0431
    Cell Significance Index: -2.0100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0451
    Cell Significance Index: -0.9600
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.0477
    Cell Significance Index: -1.0200
  • Cell Name: leukocyte (CL0000738)
    Fold Change: -0.0524
    Cell Significance Index: -0.8900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0525
    Cell Significance Index: -2.3200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0531
    Cell Significance Index: -1.6900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0559
    Cell Significance Index: -1.8300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0571
    Cell Significance Index: -2.0000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0587
    Cell Significance Index: -1.5100
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.0596
    Cell Significance Index: -0.7700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0613
    Cell Significance Index: -2.3200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0639
    Cell Significance Index: -1.4000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0647
    Cell Significance Index: -1.7600
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.0671
    Cell Significance Index: -0.9200
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: -0.0674
    Cell Significance Index: -0.5700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0676
    Cell Significance Index: -2.4800
  • Cell Name: monocyte (CL0000576)
    Fold Change: -0.0695
    Cell Significance Index: -0.8000
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.0737
    Cell Significance Index: -1.1400
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.0738
    Cell Significance Index: -0.7300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0743
    Cell Significance Index: -1.9900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0743
    Cell Significance Index: -1.5600
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0746
    Cell Significance Index: -2.3600
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: -0.0748
    Cell Significance Index: -0.5800
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0770
    Cell Significance Index: -1.9200
  • Cell Name: intermediate monocyte (CL0002393)
    Fold Change: -0.0773
    Cell Significance Index: -0.7200
  • Cell Name: CD14-positive, CD16-low monocyte (CL0001055)
    Fold Change: -0.0780
    Cell Significance Index: -0.7500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0798
    Cell Significance Index: -2.1300
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0799
    Cell Significance Index: -2.0400
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0805
    Cell Significance Index: -2.0500
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: -0.0806
    Cell Significance Index: -0.9100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0809
    Cell Significance Index: -2.3100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Pyrin structure:** The MEFV gene encodes a protein, pyrin, which is characterized by a unique structure, consisting of two domains: an N-terminal domain and a C-terminal domain. The N-terminal domain is involved in binding to the NLRP3 inflammasome complex, while the C-terminal domain interacts with actin and other cytoskeletal components. 2. **Inflammasome regulation:** Pyrin negatively regulates the activation of the NLRP3 inflammasome complex, which is a crucial component of innate immunity. The MEFV gene product inhibits the assembly of the inflammasome complex, thereby modulating the inflammatory response. 3. **Cellular localization:** MEFV is expressed in various cell types, including monocytes, macrophages, dendritic cells, and neurons. This widespread expression highlights the gene's importance in regulating immune responses and maintaining tissue homeostasis. 4. **Disease association:** Mutations in the MEFV gene have been linked to several inflammatory disorders, including Familial Mediterranean Fever (FMF), a hereditary inflammatory condition characterized by recurrent episodes of fever and abdominal pain. **Pathways and Functions:** 1. **Inflammasome regulation:** The MEFV gene product negatively regulates the activation of the NLRP3 inflammasome complex, which is a critical component of innate immunity. This regulation is essential for preventing excessive inflammation and tissue damage. 2. **Autophagy regulation:** Pyrin also regulates autophagy, a cellular process involved in the degradation and recycling of cellular components. The MEFV gene product promotes autophagy, which is essential for maintaining cellular homeostasis and preventing disease. 3. **Cytoskeletal regulation:** Pyrin interacts with actin and other cytoskeletal components, influencing the structure and organization of the cytoskeleton. This regulation is critical for maintaining cellular shape and function. 4. **Pattern recognition receptor signaling:** The MEFV gene product interacts with pattern recognition receptors (PRRs), such as NLRP3, which recognize pathogen-associated molecular patterns (PAMPs) and trigger an immune response. **Clinical Significance:** 1. **Familial Mediterranean Fever (FMF):** Mutations in the MEFV gene are associated with FMF, a hereditary inflammatory condition characterized by recurrent episodes of fever and abdominal pain. 2. **Inflammatory disorders:** The MEFV gene's role in regulating innate immunity makes it a critical component in the development of various inflammatory disorders, including rheumatoid arthritis, lupus, and Crohn's disease. 3. **Cancer:** The MEFV gene's involvement in autophagy and cytoskeletal regulation suggests its potential role in cancer development and progression. 4. **Neurological disorders:** The MEFV gene's expression in neurons and its involvement in inflammatory responses suggest its potential role in neurological disorders, such as multiple sclerosis and Alzheimer's disease. In conclusion, the MEFV gene plays a critical role in regulating innate immunity, particularly in the context of inflammatory responses. Its involvement in various diseases highlights the importance of understanding its functions and implications in human health and disease.

Genular Protein ID: 105006514

Symbol: MEFV_HUMAN

Name: N/A

UniProtKB Accession Codes:

O15553 D3DUC0 F5H0Q3 Q3MJ84 Q96PN4 Q96PN5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 3 CTD 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DNASU 1 DisGeNET 1 EMBL 10 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 34 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 7 PDBsum 7 PRINTS 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 2 RefSeq 2 SIGNOR 1 SMART 4 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9288758

Title: Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever.

PubMed ID: 9288758

DOI: 10.1016/s0092-8674(00)80539-5

PubMed ID: 11115844

Title: Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus.

PubMed ID: 11115844

DOI: 10.1093/hmg/9.20.3001

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9288094

Title: A candidate gene for familial Mediterranean fever.

PubMed ID: 9288094

DOI: 10.1038/ng0997-25

PubMed ID: 11470495

Title: Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease.

PubMed ID: 11470495

DOI: 10.1016/s0027-5107(01)00221-4

PubMed ID: 10807793

Title: The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators.

PubMed ID: 10807793

PubMed ID: 10666224

Title: Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin.

PubMed ID: 10666224

PubMed ID: 11468188

Title: The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments.

PubMed ID: 11468188

DOI: 10.1182/blood.v98.3.851

PubMed ID: 11498534

Title: Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis.

PubMed ID: 11498534

DOI: 10.1074/jbc.m104730200

PubMed ID: 14595024

Title: Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway.

PubMed ID: 14595024

DOI: 10.1073/pnas.2135380100

PubMed ID: 12384939

Title: Reduced MEFV messenger RNA expression in patients with familial Mediterranean fever.

PubMed ID: 12384939

DOI: 10.1002/art.10575

PubMed ID: 16037825

Title: Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization.

PubMed ID: 16037825

DOI: 10.1038/sj.cdd.4401734

PubMed ID: 16785446

Title: The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production.

PubMed ID: 16785446

DOI: 10.1073/pnas.0602081103

PubMed ID: 17431422

Title: The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing.

PubMed ID: 17431422

DOI: 10.1038/sj.cdd.4402142

PubMed ID: 17964261

Title: Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants.

PubMed ID: 17964261

DOI: 10.1016/j.molcel.2007.08.029

PubMed ID: 18577712

Title: The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment.

PubMed ID: 18577712

DOI: 10.1182/blood-2008-01-134932

PubMed ID: 19109554

Title: Pyrin and ASC co-localize to cellular sites that are rich in polymerizing actin.

PubMed ID: 19109554

DOI: 10.3181/0806-rm-184

PubMed ID: 19584923

Title: Pyrin Modulates the Intracellular Distribution of PSTPIP1.

PubMed ID: 19584923

DOI: 10.1371/journal.pone.0006147

PubMed ID: 26347139

Title: TRIM-mediated precision autophagy targets cytoplasmic regulators of innate immunity.

PubMed ID: 26347139

DOI: 10.1083/jcb.201503023

PubMed ID: 19729025

Title: The crystal structure of human pyrin b30.2 domain: implications for mutations associated with familial Mediterranean fever.

PubMed ID: 19729025

DOI: 10.1016/j.jmb.2009.08.059

PubMed ID: 9668175

Title: Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).

PubMed ID: 9668175

DOI: 10.1093/hmg/7.8.1317

PubMed ID: 10024914

Title: Pyrin/marenostrin mutations in familial Mediterranean fever.

PubMed ID: 10024914

DOI: 10.1093/qjmed/91.9.603

PubMed ID: 10090880

Title: Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.

PubMed ID: 10090880

DOI: 10.1086/302327

PubMed ID: 10364520

Title: MEFV-Gene analysis in Armenian patients with familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.

PubMed ID: 10364520

DOI: 10.1086/302459

PubMed ID: 10234504

Title: Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.

PubMed ID: 10234504

DOI: 10.1038/sj.ejhg.5200303

PubMed ID: 10612841

Title: MEFV mutations in Turkish patients suffering from familial Mediterranean fever.

PubMed ID: 10612841

DOI: 10.1002/(sici)1098-1004(200001)15:1<118::aid-humu29>3.0.co;2-5

PubMed ID: 10737995

Title: The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?

PubMed ID: 10737995

DOI: 10.1002/(sici)1098-1004(200004)15:4<385::aid-humu22>3.0.co;2-a

PubMed ID: 10854105

Title: Familial Mediterranean fever in the 'Chuetas' of Mallorca: a question of Jewish origin or genetic heterogeneity.

PubMed ID: 10854105

DOI: 10.1038/sj.ejhg.5200462

PubMed ID: 10842288

Title: Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever.

PubMed ID: 10842288

DOI: 10.1002/(sici)1096-8628(20000605)92:4<241::aid-ajmg3>3.3.co;2-7

PubMed ID: 10787449

Title: The genetic basis of autosomal dominant familial Mediterranean fever.

PubMed ID: 10787449

DOI: 10.1093/qjmed/93.4.217

PubMed ID: 11464238

Title: The spectrum of familial mediterranean fever (FMF) mutations.

PubMed ID: 11464238

DOI: 10.1038/sj.ejhg.5200658

PubMed ID: 12124996

Title: I591T MEFV mutation in a Spanish kindred: is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier?

PubMed ID: 12124996

DOI: 10.1002/humu.10103

PubMed ID: 14679589

Title: A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?

PubMed ID: 14679589

DOI: 10.1002/ajmg.a.20296

PubMed ID: 15024744

Title: The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination 'hot-spot' at the MEFV locus.

PubMed ID: 15024744

DOI: 10.1002/humu.9229

PubMed ID: 16378925

Title: Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.

PubMed ID: 16378925

DOI: 10.1016/j.ejmg.2005.05.010

PubMed ID: 16730661

Title: Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF).

PubMed ID: 16730661

DOI: 10.1016/j.bbrc.2006.04.185

PubMed ID: 23031807

Title: Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey.

PubMed ID: 23031807

DOI: 10.1016/j.gene.2012.09.073

PubMed ID: 23505238

Title: MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.

PubMed ID: 23505238

DOI: 10.1136/annrheumdis-2012-202580

PubMed ID: 24929125

Title: Frequency of MEFV gene mutations in Hatay province, Mediterranean region of Turkey and report of a novel missense mutation (I247V).

PubMed ID: 24929125

DOI: 10.1016/j.gene.2014.06.019

PubMed ID: 27030597

Title: Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation.

PubMed ID: 27030597

DOI: 10.1126/scitranslmed.aaf1471

PubMed ID: 28835462

Title: A novel pyrin-associated autoinflammation with neutrophilic dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever.

PubMed ID: 28835462

DOI: 10.1136/annrheumdis-2017-211473

Sequence Information:

  • Length: 781
  • Mass: 86444
  • Checksum: 3692E5E6E9FC8204
  • Sequence:
    • MAKTPSDHLL STLEELVPYD FEKFKFKLQN TSVQKEHSRI PRSQIQRARP VKMATLLVTY 
YGEEYAVQLT LQVLRAINQR LLAEELHRAA IQEYSTQENG TDDSAASSSL GENKPRSLKT 
PDHPEGNEGN GPRPYGGGAA SLRCSQPEAG RGLSRKPLSK RREKASEGLD AQGKPRTRSP 
ALPGGRSPGP CRALEGGQAE VRLRRNASSA GRLQGLAGGA PGQKECRPFE VYLPSGKMRP 
RSLEVTISTG EKAPANPEIL LTLEEKTAAN LDSATEPRAR PTPDGGASAD LKEGPGNPEH 
SVTGRPPDTA ASPRCHAQEG DPVDGTCVRD SCSFPEAVSG HPQASGSRSP GCPRCQDSHE 
RKSPGSLSPQ PLPQCKRHLK QVQLLFCEDH DEPICLICSL SQEHQGHRVR PIEEVALEHK 
KKIQKQLEHL KKLRKSGEEQ RSYGEEKAVS FLKQTEALKQ RVQRKLEQVY YFLEQQEHFF 
VASLEDVGQM VGQIRKAYDT RVSQDIALLD ALIGELEAKE CQSEWELLQD IGDILHRAKT 
VPVPEKWTTP QEIKQKIQLL HQKSEFVEKS TKYFSETLRS EMEMFNVPEL IGAQAHAVNV 
ILDAETAYPN LIFSDDLKSV RLGNKWERLP DGPQRFDSCI IVLGSPSFLS GRRYWEVEVG 
DKTAWILGAC KTSISRKGNM TLSPENGYWV VIMMKENEYQ ASSVPPTRLL IKEPPKRVGI 
FVDYRVGSIS FYNVTARSHI YTFASCSFSG PLQPIFSPGT RDGGKNTAPL TICPVGGQGP 
D

Genular Protein ID: 2932793208

Symbol: D2DTW2_HUMAN

Name: N/A

UniProtKB Accession Codes:

D2DTW2

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 1 Gene3D 2 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 4 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 2 RefSeq 1 SAM 1 SMART 2 SUPFAM 2

Citations:

PubMed ID: 19755381

Title: Expression of the familial Mediterranean fever gene is regulated by nonsense-mediated decay.

PubMed ID: 19755381

DOI: 10.1093/hmg/ddp437

Sequence Information:

  • Length: 413
  • Mass: 47376
  • Checksum: FCD7E6C6269AFCEF
  • Sequence:
    • MAKTPSDHLL STLEELVPYD FEKFKFKLQN TSVQKEHSRI PRSQIQRARP VKMATLLVTY 
YGEEYAVQLT LQVLRAINQR LLAEELHRAA IQGRPPDTAA SPRCHAQEGD PVDGTCVRDS 
CSFPEAVSGH PQASGSRSPG CPRCQDSHER KSPGSLSPQP LPQCKRHLKQ VQLLFCEDHD 
EPICLICSLS QEHQGHRVRP IEEVALEHKK KIQKQLEHLK KLRKSGEEQR SYGEEKAVSF 
LKQTEALKQR VQRKLEQVYY FLEQQEHFFV ASLEDVGQMV GQIRKAYDTR VSQDIALLDA 
LIGELEAKEC QSEWELLQDI GDILHRAKTV PVPEKWTTPQ EIKQKIQLLH QKSEFVEKST 
KYFSETLRSE MEMFNDHSPQ HGLGSWEERI IPQHSMQGPK QGVPCLFLVV RTV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.