Gene: USH2A
Alternate names for this Gene: RP39|US2|USH2|dJ1111A8.1
Gene Summary: This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and 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 and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene.
Gene is located in Chromosome: 1
Location in Chromosome : 1q41
Description of this Gene: usherin
Type of Gene: protein-coding
Gene: LOC105372918
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
rs483353055 in
USH2A;LOC105372918 gene and
Cone-Rod Dystrophies
PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
rs1177198729 in
USH2A;LOC105372918 gene and
RETINITIS PIGMENTOSA 39 (disorder)
PMID 16963483 2007 Development of a genotyping microarray for Usher syndrome.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
PMID 19737284 2009 Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.
PMID 24944099 2014 Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.
PMID 10729113 2000 Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
PMID 19683999 2010 Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
PMID 28512305 2017 Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.
PMID 25991456 2015 DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.
PMID 27460420 2016 An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
PMID 27208204 2016 Molecular findings from 537 individuals with inherited retinal disease.
PMID 22135276 2012 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
PMID 15823922 2005 Novel mutations in MYO7A and USH2A in Usher syndrome.
PMID 22004887 2011 Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.
PMID 10909849 2000 Identification of novel USH2A mutations: implications for the structure of USH2A protein.
rs1177198729 in
USH2A;LOC105372918 gene and
USHER SYNDROME, TYPE IIA
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
PMID 16963483 2007 Development of a genotyping microarray for Usher syndrome.
PMID 19737284 2009 Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.
PMID 24944099 2014 Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.
PMID 19683999 2010 Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
PMID 10729113 2000 Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
PMID 27460420 2016 An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
PMID 27208204 2016 Molecular findings from 537 individuals with inherited retinal disease.
PMID 25991456 2015 DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.
PMID 28512305 2017 Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.
PMID 22135276 2012 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
PMID 15823922 2005 Novel mutations in MYO7A and USH2A in Usher syndrome.
PMID 10909849 2000 Identification of novel USH2A mutations: implications for the structure of USH2A protein.
PMID 22004887 2011 Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.