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| # | Reference Title | Reference Citation |
| 1. | Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews. | Auslender N, etal., Genet Test. 2008 Jun;12(2):289-94. doi: 10.1089/gte.2007.0107. |
| 2. | Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. | Baux D, etal., Hum Mutat. 2007 Aug;28(8):781-9. |
| 3. | Genes and mutations causing retinitis pigmentosa. | Daiger SP, etal., Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19. |
| 4. | An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians. | Ebermann I, etal., Eur J Hum Genet. 2009 Jan;17(1):80-4. doi: 10.1038/ejhg.2008.143. Epub 2008 Jul 30. |
| 5. | Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. | Eudy JD, etal., Science. 1998 Jun 12;280(5370):1753-7. |
| 6. | 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. |
| 7. | Identification of the mouse and rat orthologs of the gene mutated in Usher syndrome type IIA and the cellular source of USH2A mRNA in retina, a target tissue of the disease. | Huang D, etal., Genomics 2002 Aug;80(2):195-203. |
| 8. | Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family. | Liu X, etal., Mol Vis. 2010 Mar 17;16:454-61. |
| 9. | Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. | Liu X, etal., Proc Natl Acad Sci U S A. 2007 Mar 13;104(11):4413-8. Epub 2007 Mar 5. |
| 10. | Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. | McGee TL, etal., J Med Genet. 2010 Jul;47(7):499-506. doi: 10.1136/jmg.2009.075143. Epub 2010 May 27. |
| 11. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 12. | Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. | Najera C, etal., Hum Mutat. 2002 Jul;20(1):76-7. |
| 13. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 14. | Mutational spectrum in Usher syndrome type II. | Ouyang XM, etal., Clin Genet. 2004 Apr;65(4):288-93. |
| 15. | Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. | Reiners J, etal., Hum Mol Genet. 2005 Dec 15;14(24):3933-43. Epub 2005 Nov 21. |
| 16. | GOA pipeline | RGD automated data pipeline |
| 17. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 18. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 19. | Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. | Rivolta C, etal., Am J Hum Genet. 2000 Jun;66(6):1975-8. Epub 2000 Apr 20. |
| 20. | Review series: The cell biology of hearing. | Schwander M, etal., J Cell Biol. 2010 Jul 12;190(1):9-20. doi: 10.1083/jcb.201001138. |
| 21. | Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. | Vache C, etal., Hum Mutat. 2012 Jan;33(1):104-8. doi: 10.1002/humu.21634. Epub 2011 Nov 16. |
| 22. | The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. | van Wijk E, etal., Hum Mol Genet. 2006 Mar 1;15(5):751-65. Epub 2006 Jan 24. |
| 23. | Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. | Weston MD, etal., Am J Hum Genet. 2000 Apr;66(4):1199-210. Epub 2000 Mar 22. |
| 24. | Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing. | Yang T, etal., Orphanet J Rare Dis. 2013 Jun 14;8:85. doi: 10.1186/1750-1172-8-85. |
| PMID:10090909 | PMID:12433396 | PMID:14676276 | PMID:15671307 | PMID:16301217 | PMID:17567809 | PMID:17906286 | PMID:20502675 | PMID:21212183 | PMID:24334608 | PMID:25406310 |
| Ush2a (Rattus norvegicus - Norway rat) |
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| USH2A (Homo sapiens - human) |
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| Ush2a (Mus musculus - house mouse) |
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| Ush2a (Chinchilla lanigera - long-tailed chinchilla) |
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| USH2A (Pan paniscus - bonobo/pygmy chimpanzee) |
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| USH2A (Canis lupus familiaris - dog) |
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| Ush2a (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| USH2A (Sus scrofa - pig) |
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| USH2A (Chlorocebus sabaeus - green monkey) |
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| Ush2a (Heterocephalus glaber - naked mole-rat) |
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| Ush2a (Rattus rattus - black rat) |
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.
Variants in Ush2a
4287 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 |
| D13Got96 |
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| D13Got101 |
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| RH137407 |
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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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| 6 | 2 | 30 | 142 | 60 | 63 | 34 | 15 | 34 | 6 | 154 | 63 | 3 | 124 | 49 | 75 | 29 | 17 | 17 |
| RefSeq Transcripts | NM_001302219 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_017598744 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017598745 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017598746 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017598747 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017598748 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017598749 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017598750 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017598751 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017598752 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017598753 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017598754 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017598755 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017598756 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017598757 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017598758 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_001840774 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AY077844 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| JAXUCZ010000013 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000004992 ⟹ ENSRNOP00000004992 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| RefSeq Acc Id: | NM_001302219 ⟹ NP_001289148 | ||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
| Protein RefSeqs | NP_001289148 | (Get FASTA) | NCBI Sequence Viewer |
| GenBank Protein | AAL78289 | (Get FASTA) | NCBI Sequence Viewer |
| Ensembl Protein | ENSRNOP00000004992 | ||
| GenBank Protein | Q8K3K1 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_001289148 ⟸ NM_001302219 |
| - Peptide Label: | precursor |
| - UniProtKB: | Q8K3K1 (UniProtKB/Swiss-Prot), F1M2F9 (UniProtKB/Swiss-Prot), A0A5H1ZRU3 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000004992 ⟸ ENSRNOT00000004992 |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:628777 | AgrOrtholog |
| BioCyc Gene | G2FUF-16924 | BioCyc |
| Ensembl Genes | ENSRNOG00000003738 | Ensembl, ENTREZGENE |
| Ensembl Transcript | ENSRNOT00000004992 | ENTREZGENE |
| Gene3D-CATH | 2.60.120.200 | UniProtKB/Swiss-Prot |
| 2.60.40.10 | UniProtKB/Swiss-Prot | |
| Galactose-binding domain-like | UniProtKB/Swiss-Prot | |
| Laminin | UniProtKB/Swiss-Prot | |
| Tie2 ligand-binding domain superfamily | UniProtKB/Swiss-Prot | |
| InterPro | ConA-like_dom_sf | UniProtKB/Swiss-Prot |
| FN3_dom | UniProtKB/Swiss-Prot | |
| FN3_sf | UniProtKB/Swiss-Prot | |
| Ig-like_fold | UniProtKB/Swiss-Prot | |
| LamG-like | UniProtKB/Swiss-Prot | |
| Laminin_EGF | UniProtKB/Swiss-Prot | |
| Laminin_G | UniProtKB/Swiss-Prot | |
| Laminin_N | UniProtKB/Swiss-Prot | |
| RTP_Phos/Ushers | UniProtKB/Swiss-Prot | |
| NCBI Gene | Ush2a | ENTREZGENE |
| PANTHER | CYTOKINE RECEPTOR | UniProtKB/Swiss-Prot |
| USHERIN | UniProtKB/Swiss-Prot | |
| Pfam | fn3 | UniProtKB/Swiss-Prot |
| Laminin_EGF | UniProtKB/Swiss-Prot | |
| Laminin_G_2 | UniProtKB/Swiss-Prot | |
| Laminin_G_3 | UniProtKB/Swiss-Prot | |
| Laminin_N | UniProtKB/Swiss-Prot | |
| PhenoGen | Ush2a | PhenoGen |
| PRINTS | EGFLAMININ | UniProtKB/Swiss-Prot |
| PROSITE | EGF_1 | UniProtKB/Swiss-Prot |
| EGF_LAM_1 | UniProtKB/Swiss-Prot | |
| EGF_LAM_2 | UniProtKB/Swiss-Prot | |
| FN3 | UniProtKB/Swiss-Prot | |
| LAM_G_DOMAIN | UniProtKB/Swiss-Prot | |
| LAMININ_NTER | UniProtKB/Swiss-Prot | |
| RatGTEx | ENSRNOG00000003738 | RatGTEx |
| SMART | EGF_Lam | UniProtKB/Swiss-Prot |
| FN3 | UniProtKB/Swiss-Prot | |
| LamG | UniProtKB/Swiss-Prot | |
| LamGL | UniProtKB/Swiss-Prot | |
| LamNT | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | EGF/Laminin | UniProtKB/Swiss-Prot |
| SSF49265 | UniProtKB/Swiss-Prot | |
| SSF49899 | UniProtKB/Swiss-Prot | |
| UniProt | A0A5H1ZRU3 | ENTREZGENE, UniProtKB/TrEMBL |
| F1M2F9 | ENTREZGENE | |
| Q8K3K1 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| UniProt Secondary | F1M2F9 | UniProtKB/Swiss-Prot |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2021-03-09 | Ush2a | usherin | LOC102554234 | usherin-like | Data merged from RGD:7673532 | 737654 | PROVISIONAL |
| 2016-06-03 | Ush2a | usherin | Ush2a | Usher syndrome 2A (autosomal recessive, mild) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2013-12-18 | LOC102554234 | usherin-like | Symbol and Name status set to provisional | 70820 | PROVISIONAL | ||
| 2012-10-02 | Ush2a | Usher syndrome 2A (autosomal recessive, mild) | Ush2a | Usher syndrome 2A | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2012-07-26 | Ush2a | Usher syndrome 2A | Ush2a | Usher syndrome 2A homolog (human) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2009-12-16 | Ush2a | Usher syndrome 2A homolog (human) | RGD1560269 | similar to usherin isoform B | Data merged from RGD:1560269 | 737654 | APPROVED |
| 2008-12-15 | Ush2a | Usher syndrome 2A homolog (human) | Ush2a | Usher syndrome 2A (autosomal recessive, mild) homolog (human) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2008-04-30 | RGD1560269 | similar to usherin isoform B | RGD1560269_predicted | similar to usherin isoform B (predicted) | 'predicted' is removed | 2292626 | APPROVED |
| 2006-03-07 | RGD1560269_predicted | similar to usherin isoform B (predicted) | LOC289369 | similar to usherin isoform B | Symbol and Name status set to approved | 1299863 | APPROVED |
| 2006-02-09 | LOC289369 | similar to usherin isoform B | Symbol and Name status set to provisional | 70820 | PROVISIONAL | ||
| 2005-07-08 | Ush2a | Usher syndrome 2A (autosomal recessive, mild) homolog (human) | Usher syndrome 2A (autosomal recessive, mild) | Name updated | 1299863 | APPROVED | |
| 2003-02-27 | Ush2a | Usher syndrome 2A (autosomal recessive, mild) | Symbol and Name status set to provisional | 70820 | PROVISIONAL |
| Note Type | Note | Reference |
|---|---|---|
| gene_domains | contains a leader sequence, an amino-terminal globular domain, 10 laminin epidermal growth factor domains, and four carboxy-terminal fibronectin type III motifs | 634438 |