≡

Usher Syndrome Protein 2A (USH2A)

[Edit]

US2; USH2; RP39; Usherin; AIE-75-binding protein

Usher Syndrome Protein 2A (USH2A)
CCC L063
HGNC 12601
MGI 1341292
PubMed 10775529
UniProt O75445
Wiki USH2A
This gene encodes the protein Usherin that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The encoded basement membrane-associated protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa. Alternatively spliced transcript variants that encode different isoforms have been described.The USH2A gene encodes a 1,551-amino acid protein with a predicted molecular mass of 171.5 kD. The USH2A protein sequence contains laminin epidermal growth factor and fibronectin type III motifs, which are most commonly observed in proteins comprising components of the basal lamina and extracellular matrices and in cell adhesion molecules.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Usher Syndrome Protein 2A (USH2A) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Usher Syndrome Protein 2A (USH2A) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Usher Syndrome Protein 2A (USH2A) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Usher Syndrome Protein 2A (USH2A) CLIA Kit Customized Service Offer
n/a ELISA Kit for Usher Syndrome Protein 2A (USH2A) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Usher Syndrome Protein 2A (USH2A) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Usher Syndrome Protein 2A (USH2A) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Usher Syndrome Protein 2A (USH2A) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Usher Syndrome Protein 2A (USH2A) CLIA Kit Customized Service Offer
n/a ELISA Kit for Usher Syndrome Protein 2A (USH2A) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Usher Syndrome Protein 2A (USH2A) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Usher Syndrome Protein 2A (USH2A) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Usher Syndrome Protein 2A (USH2A) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Usher Syndrome Protein 2A (USH2A) CLIA Kit Customized Service Offer
n/a ELISA Kit for Usher Syndrome Protein 2A (USH2A) ELISA Kit Customized Service Offer
  1. "Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa."Science 280:1753-1757(1998) [PubMed] [Europe PMC] [Abstract]
  2. "Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa."Am. J. Hum. Genet. 66:1199-1210(2000) [PubMed] [Europe PMC] [Abstract]
  3. ErratumAm. J. Hum. Genet. 66:2020-2020(2000)
  4. "Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II."Am. J. Hum. Genet. 74:738-744(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The DNA sequence and biological annotation of human chromosome 1." Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
  6. "Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa."Hear. Res. 163:1-11(2002) [PubMed] [Europe PMC] [Abstract]
  7. "Usherin expression is highly conserved in mouse and human tissues."Hear. Res. 174:55-63(2002) [PubMed] [Europe PMC] [Abstract]
  8. "A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure."J. Cell Sci. 117:233-242(2004) [PubMed] [Europe PMC] [Abstract]
  9. "Evidence for functional importance of usherin/fibronectin interactions in retinal basement membranes."Biochemistry 44:11518-11524(2005) [PubMed] [Europe PMC] [Abstract]
  10. "Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells."Hum. Mol. Genet. 14:3921-3932(2005) [PubMed] [Europe PMC] [Abstract]
  11. "Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2."Hum. Mol. Genet. 14:3933-3943(2005) [PubMed] [Europe PMC] [Abstract]
  12. "The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1."Hum. Mol. Genet. 15:751-765(2006) [PubMed] [Europe PMC] [Abstract]
  13. "The molecular genetics of Usher syndrome."Clin. Genet. 63:431-444(2003) [PubMed] [Europe PMC] [Abstract]
  14. "Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein."Hum. Mol. Genet. 18:51-64(2009) [PubMed] [Europe PMC] [Abstract]
  15. "PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome."J. Clin. Invest. 120:1812-1823(2010) [PubMed] [Europe PMC] [Abstract]
  16. "Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss."Am. J. Hum. Genet. 66:1975-1978(2000) [PubMed] [Europe PMC] [Abstract]
  17. "Identification of novel USH2A mutations: implications for the structure of USH2A protein."Eur. J. Hum. Genet. 8:500-506(2000) [PubMed] [Europe PMC] [Abstract]
  18. "Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families."Hum. Mutat. 15:388-388(2000) [PubMed] [Europe PMC] [Abstract]
  19. "Spectrum of mutations in USH2A in British patients with Usher syndrome type II."Exp. Eye Res. 72:503-509(2001) [PubMed] [Europe PMC] [Abstract]
  20. "Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A."Arch. Ophthalmol. 120:1566-1571(2002) [PubMed] [Europe PMC] [Abstract]
  21. "Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively."Hum. Mutat. 20:76-77(2002) [PubMed] [Europe PMC] [Abstract]
  22. "Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation."J. Med. Genet. 40:E8-E8(2003) [PubMed] [Europe PMC] [Abstract]
  23. "Mutational spectrum in Usher syndrome type II."Clin. Genet. 65:288-293(2004) [PubMed] [Europe PMC] [Abstract]
  24. ErratumClin. Genet. 65:433-433(2004)
  25. "Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments."Eur. J. Hum. Genet. 12:407-410(2004) [PubMed] [Europe PMC] [Abstract]
  26. "Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa."Exp. Eye Res. 79:167-173(2004) [PubMed] [Europe PMC] [Abstract]
  27. "USH2A mutation analysis in 70 Dutch families with Usher syndrome type II."Hum. Mutat. 24:185-185(2004) [PubMed] [Europe PMC] [Abstract]
  28. "Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype-phenotype correlation."Clin. Genet. 68:204-214(2005) [PubMed] [Europe PMC] [Abstract]
  29. "Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II."J. Med. Genet. 43:E55-E55(2006) [PubMed] [Europe PMC] [Abstract]
  30. "Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2."Arch. Ophthalmol. 125:219-224(2007) [PubMed] [Europe PMC] [Abstract]
  31. "Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients."Hum. Mutat. 28:781-789(2007) [PubMed] [Europe PMC] [Abstract]
  32. "Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews."Genet. Test. 12:289-294(2008) [PubMed] [Europe PMC] [Abstract]
  33. "Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II."Hum. Mutat. 29:451-451(2008) [PubMed] [Europe PMC] [Abstract]
  34. "Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2."Clin. Genet. 76:383-391(2009) [PubMed] [Europe PMC] [Abstract]
  35. "Microarray-based mutation analysis of 183 Spanish families with Usher syndrome."Invest. Ophthalmol. Vis. Sci. 51:1311-1317(2010) [PubMed] [Europe PMC] [Abstract]
  36. "Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa."J. Med. Genet. 47:499-506(2010) [PubMed] [Europe PMC] [Abstract]
  37. "Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family."Mol. Vis. 16:454-461(2010) [PubMed] [Europe PMC] [Abstract]
  38. "Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation."Am. J. Hum. Genet. 89:320-327(2011) [PubMed] [Europe PMC] [Abstract]
  39. "Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations."J. Hum. Genet. 56:484-490(2011) [PubMed] [Europe PMC] [Abstract]
  40. "Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II."Mol. Vis. 17:1537-1552(2011) [PubMed] [Europe PMC] [Abstract]
  41. "Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma." Nature 469:539-542(2011) [PubMed] [Europe PMC] [Abstract]
  42. "Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations."Orphanet J. Rare Dis. 6:65-65(2011) [PubMed] [Europe PMC] [Abstract]
  43. "Next-generation genetic testing for retinitis pigmentosa." Hum. Mutat. 33:963-972(2012) [PubMed] [Europe PMC] [Abstract]
  44. "Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa."Mol. Vis. 19:2187-2195(2013) [PubMed] [Europe PMC] [Abstract]
  45. "Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families."PLoS ONE 8:E63832-E63832(2013) [PubMed] [Europe PMC] [Abstract]