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| # | Reference Title | Reference Citation |
| 1. | Pulmonary manifestations and function tests in children genetically diagnosed with FMF. | Brik R, etal., Pediatr Pulmonol. 2003 Jun;35(6):452-5. |
| 2. | Frequency of inherited variants in the MEFV gene in myelodysplastic syndrome and acute myeloid leukemia. | Celik S, etal., Int J Hematol. 2012 Mar;95(3):285-90. doi: 10.1007/s12185-012-1022-0. Epub 2012 Feb 18. |
| 3. | The rate of MEFV gene mutations in hematolymphoid neoplasms. | Celik S, etal., Int J Immunogenet. 2010 Oct;37(5):387-91. doi: 10.1111/j.1744-313X.2010.00938.x. Epub 2010 May 27. |
| 4. | Increased frequency of Mediterranean fever gene variants in multiple myeloma. | Celik S, etal., Oncol Lett. 2014 Oct;8(4):1735-1738. Epub 2014 Aug 4. |
| 5. | Isolation, genomic organization, and expression analysis of the mouse and rat homologs of MEFV, the gene for familial mediterranean fever. | Chae JJ, etal., Mamm Genome 2000 Jun;11(6):428-35. |
| 6. | Prevalence and significance of the MEFV gene mutations in childhood Henoch-Schonlein purpura without FMF symptoms. | Dogan CS, etal., Rheumatol Int. 2013 Feb;33(2):377-80. doi: 10.1007/s00296-012-2400-x. Epub 2012 Mar 27. |
| 7. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 8. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 9. | MEFV E148Q polymorphism is associated with Henoch-Schonlein purpura in Chinese children. | He X, etal., Pediatr Nephrol. 2010 Oct;25(10):2077-82. doi: 10.1007/s00467-010-1582-2. Epub 2010 Jul 3. |
| 10. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 11. | Mediterranean Fever gene analysis in the azeri turk population with familial mediterranean Fever: evidence for new mutations associated with disease. | Mohammadnejad L and Farajnia S, Cell J. 2013 Summer;15(2):152-9. Epub 2013 Jul 2. |
| 12. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 13. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 14. | The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLA. | Ong FS, etal., Clin Genet. 2013 Jul;84(1):55-9. doi: 10.1111/cge.12029. Epub 2012 Nov 7. |
| 15. | Familial Mediterranean fever gene mutation frequencies and genotype-phenotype correlations in the Aegean region of Turkey. | Ozalkaya E, etal., Rheumatol Int. 2010 Mar 9. |
| 16. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 17. | Familial Mediterranean fever gene and protection against asthma. | Rabinovitch E, etal., Ann Allergy Asthma Immunol. 2007 Dec;99(6):517-21. |
| 18. | Exposure in vivo to silica or lipopolysaccharide produces transient or sustained upregulation, respectively, of PYPAF7 and MEFV genes in bronchoalveolar lavage cells in rats. | Rao KM and Meighan T, J Toxicol Environ Health A. 2006 Mar;69(6):481-90. |
| 19. | GOA pipeline | RGD automated data pipeline |
| 20. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 21. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 22. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 23. | MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura. | Salah S, etal., Pediatr Rheumatol Online J. 2014 Sep 9;12:41. doi: 10.1186/1546-0096-12-41. eCollection 2014. |
| 24. | High Frequency of Inherited Variants in the MEFV Gene in Acute Lymphocytic Leukemia. | Sayan O, etal., Indian J Hematol Blood Transfus. 2011 Sep;27(3):164-8. doi: 10.1007/s12288-011-0095-x. Epub 2011 Jul 21. |
| 25. | Tentative Sequence Identification Numbers | Tentative Sequence Data IDs. TIGR Gene Index, Rat Data |
| PMID:11115844 | PMID:11468188 | PMID:16403826 | PMID:17964261 | PMID:19158676 | PMID:20041150 | PMID:22829933 | PMID:25006247 | PMID:26347139 |
| Mefv (Rattus norvegicus - Norway rat) |
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| MEFV (Homo sapiens - human) |
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| Mefv (Mus musculus - house mouse) |
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| Mefv (Chinchilla lanigera - long-tailed chinchilla) |
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| MEFV (Pan paniscus - bonobo/pygmy chimpanzee) |
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| MEFV (Canis lupus familiaris - dog) |
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| Mefv (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| MEFV (Sus scrofa - pig) |
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| MEFV (Chlorocebus sabaeus - green monkey) |
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| Mefv (Heterocephalus glaber - naked mole-rat) |
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| Mefv (Rattus rattus - black rat) |
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Variants in Mefv
93 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| AI177426 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 51 | 139 | 91 | 90 | 59 | 92 | 59 | 6 | 336 | 176 | 11 | 116 | 77 | 84 | 31 | 11 | 11 |
| RefSeq Transcripts | NM_031634 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_017597485 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017597487 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017597488 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017597489 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039086716 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AF143410 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| CH474017 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000011073 ⟹ ENSRNOP00000011073 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000081191 ⟹ ENSRNOP00000070256 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000084004 ⟹ ENSRNOP00000070644 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_031634 ⟹ NP_113822 | ||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_017597488 ⟹ XP_017452977 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_039086716 ⟹ XP_038942644 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| Protein RefSeqs | NP_113822 | (Get FASTA) | NCBI Sequence Viewer |
| XP_017452977 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038942644 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAF03767 | (Get FASTA) | NCBI Sequence Viewer |
| EDL96326 | (Get FASTA) | NCBI Sequence Viewer | |
| EDL96327 | (Get FASTA) | NCBI Sequence Viewer | |
| EDL96328 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000070256 | ||
| GenBank Protein | Q9JJ25 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_113822 ⟸ NM_031634 |
| - UniProtKB: | Q9JJ25 (UniProtKB/Swiss-Prot), A0A0G2JYG3 (UniProtKB/Swiss-Prot), A6K4V5 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_017452977 ⟸ XM_017597488 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | Q9JJ25 (UniProtKB/Swiss-Prot), A0A0G2JYG3 (UniProtKB/Swiss-Prot) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000070256 ⟸ ENSRNOT00000081191 |
| Ensembl Acc Id: | ENSRNOP00000070644 ⟸ ENSRNOT00000084004 |
| Ensembl Acc Id: | ENSRNOP00000011073 ⟸ ENSRNOT00000011073 |
| RefSeq Acc Id: | XP_038942644 ⟸ XM_039086716 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q9JJ25 (UniProtKB/Swiss-Prot), A0A0G2JYG3 (UniProtKB/Swiss-Prot), A0A0G2JXG0 (UniProtKB/TrEMBL) |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-Q9JJ25-F1-model_v2 | AlphaFold | Q9JJ25 | 1-747 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:61889 | AgrOrtholog |
| BioCyc Gene | G2FUF-25986 | BioCyc |
| Ensembl Genes | ENSRNOG00000008134 | Ensembl, ENTREZGENE |
| Ensembl Transcript | ENSRNOT00000081191 | ENTREZGENE |
| Gene3D-CATH | 1.10.533.10 | UniProtKB/Swiss-Prot |
| Classic Zinc Finger | UniProtKB/Swiss-Prot | |
| InterPro | DEATH-like | UniProtKB/Swiss-Prot |
| Pyrin | UniProtKB/Swiss-Prot | |
| TRIM/RBCC | UniProtKB/Swiss-Prot | |
| Znf_B-box | UniProtKB/Swiss-Prot | |
| KEGG Report | rno:58923 | UniProtKB/Swiss-Prot |
| NCBI Gene | 58923 | ENTREZGENE |
| PANTHER | E3 UBIQUITIN-PROTEIN LIGASE TRIM | UniProtKB/Swiss-Prot |
| Pfam | PAAD_DAPIN | UniProtKB/Swiss-Prot |
| zf-B_box | UniProtKB/Swiss-Prot | |
| PhenoGen | Mefv | PhenoGen |
| PROSITE | DAPIN | UniProtKB/Swiss-Prot |
| ZF_BBOX | UniProtKB/Swiss-Prot | |
| RatGTEx | ENSRNOG00000008134 | RatGTEx |
| SMART | BBOX | UniProtKB/Swiss-Prot |
| PYRIN | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | B-box zinc-binding domain | UniProtKB/Swiss-Prot |
| DEATH_like | UniProtKB/Swiss-Prot | |
| TIGR | TC233290 | |
| UniProt | A0A0G2JXG0 | ENTREZGENE, UniProtKB/TrEMBL |
| A0A0G2JYG3 | ENTREZGENE | |
| A6K4V4_RAT | UniProtKB/TrEMBL | |
| A6K4V5 | ENTREZGENE, UniProtKB/TrEMBL | |
| A6K4V6_RAT | UniProtKB/TrEMBL | |
| MEFV_RAT | UniProtKB/Swiss-Prot, ENTREZGENE | |
| UniProt Secondary | A0A0G2JYG3 | UniProtKB/Swiss-Prot |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2022-10-27 | Mefv | MEFV innate immunity regulator, pyrin | Mefv | MEFV innate immuity regulator, pyrin | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2019-04-10 | Mefv | MEFV innate immuity regulator, pyrin | Mefv | MEFV, pyrin innate immunity regulator | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2017-01-17 | Mefv | MEFV, pyrin innate immunity regulator | Mefv | Mediterranean fever | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2015-07-29 | Mefv | Mediterranean fever | LOC102552366 | uncharacterized LOC102552366 | Data merged from RGD:7667673 | 737654 | PROVISIONAL |
| 2013-12-18 | LOC102552366 | uncharacterized LOC102552366 | Symbol and Name status set to provisional | 70820 | PROVISIONAL | ||
| 2004-09-10 | Mefv | Mediterranean fever | Mediterranean fever | Name updated | 1299863 | APPROVED | |
| 2002-06-10 | Mefv | Mediterranean fever | Name updated | 70584 | APPROVED |
| Note Type | Note | Reference |
|---|---|---|
| gene_domains | contains a bZIP basic domain, a B-box zinc finger domain, an a-helical or potential coiled-coil domain, and two nuclear localization signals; lacks the B30.2 (rfp) domain of human homolog | 61661 |