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| # | Reference Title | Reference Citation |
| 1. | Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. | Chang W, etal., Prenat Diagn. 2009 Jun;29(6):560-9. doi: 10.1002/pd.2238. |
| 2. | Development of rabbit monoclonal antibodies for detection of alpha-dystroglycan in normal and dystrophic tissue. | Fortunato MJ, etal., PLoS One. 2014 May 13;9(5):e97567. doi: 10.1371/journal.pone.0097567. eCollection 2014. |
| 3. | 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. |
| 4. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 5. | Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. | Godfrey C, etal., Ann Neurol. 2006 Nov;60(5):603-10. |
| 6. | Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. | Hayashi YK, etal., Neurology. 2001 Jul 10;57(1):115-21. |
| 7. | An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. | Kobayashi K, etal., Nature. 1998 Jul 23;394(6691):388-92. |
| 8. | Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). | Kondo-Iida E, etal., Hum Mol Genet. 1999 Nov;8(12):2303-9. |
| 9. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 10. | Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. | Murakami T, etal., Ann Neurol. 2006 Nov;60(5):597-602. |
| 11. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 12. | Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation. | Puckett RL, etal., Neuromuscul Disord. 2009 May;19(5):352-6. doi: 10.1016/j.nmd.2009.03.001. Epub 2009 Apr 1. |
| 13. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 14. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 15. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 16. | Fukutin protein is expressed in neurons of the normal developing human brain but is reduced in Fukuyama-type congenital muscular dystrophy brain. | Saito Y, etal., Ann Neurol. 2000 Jun;47(6):756-64. |
| 17. | Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. | Vuillaumier-Barrot S, etal., Neuromuscul Disord. 2009 Mar;19(3):182-8. doi: 10.1016/j.nmd.2008.12.005. |
| 18. | Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. | Yis U, etal., Neuromuscul Disord. 2011 Jan;21(1):20-30. doi: 10.1016/j.nmd.2010.08.007. Epub 2010 Oct 18. |
| PMID:12471058 | PMID:15213246 | PMID:17034757 | PMID:18808525 | PMID:25279699 |
| Fktn (Rattus norvegicus - Norway rat) |
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| FKTN (Homo sapiens - human) |
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| Fktn (Mus musculus - house mouse) |
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| Fktn (Chinchilla lanigera - long-tailed chinchilla) |
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| FKTN (Pan paniscus - bonobo/pygmy chimpanzee) |
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| FKTN (Canis lupus familiaris - dog) |
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| Fktn (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| FKTN (Sus scrofa - pig) |
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| FKTN (Chlorocebus sabaeus - green monkey) |
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| Fktn (Heterocephalus glaber - naked mole-rat) |
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| Fktn (Rattus rattus - black rat) |
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.
Variants in Fktn
292 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 |
| RH135333 |
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| RH140020 |
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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 | 67 | 165 | 91 | 90 | 59 | 92 | 59 | 6 | 356 | 192 | 11 | 144 | 81 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_001108667 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001437003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001437005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001437006 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001437007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001437008 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001437010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001437011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001437012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001437013 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001437014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006238166 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006238168 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006238169 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008763712 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008763713 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008763714 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008763715 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039110244 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039110247 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039110248 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039110249 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063287921 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063287923 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063287924 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063287925 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063287926 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063287927 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063287928 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063287929 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_005504477 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_005504478 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC118841 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| CH474039 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| FQ225476 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| FQ228029 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| FQ228107 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| FQ230457 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000036799 ⟹ ENSRNOP00000032995 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000127827 ⟹ ENSRNOP00000108834 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_001108667 ⟹ NP_001102137 | ||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_006238166 ⟹ XP_006238228 | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_006238169 ⟹ XP_006238231 | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_008763712 ⟹ XP_008761934 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_039110244 ⟹ XP_038966172 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_039110247 ⟹ XP_038966175 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_039110248 ⟹ XP_038966176 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_039110249 ⟹ XP_038966177 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_063287921 ⟹ XP_063143991 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063287923 ⟹ XP_063143993 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063287924 ⟹ XP_063143994 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063287925 ⟹ XP_063143995 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063287926 ⟹ XP_063143996 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063287927 ⟹ XP_063143997 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063287928 ⟹ XP_063143998 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063287929 ⟹ XP_063143999 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XR_005504477 | ||||||||||||
| Type: | NON-CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XR_005504478 | ||||||||||||
| Type: | NON-CODING | ||||||||||||
| Position: |
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| Protein RefSeqs | NP_001102137 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001423932 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001423934 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001423935 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001423936 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001423937 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001423939 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001423940 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001423941 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001423942 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001423943 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006238228 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006238231 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_008761934 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038966172 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038966175 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038966176 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038966177 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063143991 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063143993 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063143994 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063143995 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063143996 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063143997 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063143998 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063143999 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | EDL91708 | (Get FASTA) | NCBI Sequence Viewer |
| Ensembl Protein | ENSRNOP00000032995 | ||
| ENSRNOP00000032995.4 | |||
| ENSRNOP00000108834 | |||
| ENSRNOP00000108834.1 |
| RefSeq Acc Id: | NP_001102137 ⟸ NM_001108667 |
| - UniProtKB: | D3ZI33 (UniProtKB/TrEMBL), A6KDP7 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_006238228 ⟸ XM_006238166 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
| RefSeq Acc Id: | XP_006238231 ⟸ XM_006238169 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
| RefSeq Acc Id: | XP_008761934 ⟸ XM_008763712 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000032995 ⟸ ENSRNOT00000036799 |
| RefSeq Acc Id: | XP_038966172 ⟸ XM_039110244 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | D3ZI33 (UniProtKB/TrEMBL), A6KDP7 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_038966175 ⟸ XM_039110247 |
| - Peptide Label: | isoform X2 |
| RefSeq Acc Id: | XP_038966177 ⟸ XM_039110249 |
| - Peptide Label: | isoform X4 |
| RefSeq Acc Id: | XP_038966176 ⟸ XM_039110248 |
| - Peptide Label: | isoform X3 |
| RefSeq Acc Id: | XP_063143995 ⟸ XM_063287925 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A6KDP7 (UniProtKB/TrEMBL), D3ZI33 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063143991 ⟸ XM_063287921 |
| - Peptide Label: | isoform X1 |
| RefSeq Acc Id: | XP_063143996 ⟸ XM_063287926 |
| - Peptide Label: | isoform X2 |
| RefSeq Acc Id: | XP_063143997 ⟸ XM_063287927 |
| - Peptide Label: | isoform X3 |
| RefSeq Acc Id: | XP_063143999 ⟸ XM_063287929 |
| - Peptide Label: | isoform X4 |
| RefSeq Acc Id: | XP_063143998 ⟸ XM_063287928 |
| - Peptide Label: | isoform X3 |
| RefSeq Acc Id: | XP_063143993 ⟸ XM_063287923 |
| - Peptide Label: | isoform X1 |
| RefSeq Acc Id: | XP_063143994 ⟸ XM_063287924 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A6KDP7 (UniProtKB/TrEMBL), D3ZI33 (UniProtKB/TrEMBL) |
| Ensembl Acc Id: | ENSRNOP00000108834 ⟸ ENSRNOT00000127827 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-D3ZI33-F1-model_v2 | AlphaFold | D3ZI33 | 1-461 | 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:1310087 | AgrOrtholog |
| BioCyc Gene | G2FUF-41265 | BioCyc |
| Ensembl Genes | ENSRNOG00000028129 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000036799 | ENTREZGENE |
| ENSRNOT00000036799.7 | UniProtKB/TrEMBL | |
| ENSRNOT00000127827 | ENTREZGENE | |
| ENSRNOT00000127827.1 | UniProtKB/TrEMBL | |
| InterPro | FKTN_N | UniProtKB/TrEMBL |
| Fukutin-related | UniProtKB/TrEMBL | |
| LicD | UniProtKB/TrEMBL | |
| KEGG Report | rno:362520 | UniProtKB/TrEMBL |
| NCBI Gene | 362520 | ENTREZGENE |
| PANTHER | FUKUTIN | UniProtKB/TrEMBL |
| Fukutin-related | UniProtKB/TrEMBL | |
| Pfam | FKTN_N | UniProtKB/TrEMBL |
| LicD | UniProtKB/TrEMBL | |
| PhenoGen | Fktn | PhenoGen |
| PROSITE | PROKAR_LIPOPROTEIN | UniProtKB/TrEMBL |
| RatGTEx | ENSRNOG00000028129 | RatGTEx |
| UniProt | A0ABK0LS56_RAT | UniProtKB/TrEMBL |
| A6KDP7 | ENTREZGENE, UniProtKB/TrEMBL | |
| D3ZI33 | ENTREZGENE, UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2008-04-25 | Fktn | fukutin | Fcmd_predicted | Fukuyama type congenital muscular dystrophy homolog (human) (predicted) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2006-03-30 | Fcmd_predicted | Fukuyama type congenital muscular dystrophy homolog (human) (predicted) | Fukuyama type congenital muscular dystrophy (fukutin) (predicted) | Name updated | 1299863 | APPROVED | |
| 2005-01-12 | Fcmd_predicted | Fukuyama type congenital muscular dystrophy (fukutin) (predicted) | Symbol and Name status set to approved | 70820 | APPROVED |