Gene: LOC102723833

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs1342455785 in LOC102723833;USH2A gene and RETINITIS PIGMENTOSA 39 (disorder) PMID 26667666 2015 NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

PMID 25404053 2014 Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

PMID 24944099 2014 Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.

PMID 20507924 2010 Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

PMID 18641288 2008 Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.

PMID 22004887 2011 Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

PMID 26969326 2016 Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

rs1342455785 in LOC102723833;USH2A gene and USHER SYNDROME, TYPE IIA PMID 24944099 2014 Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.

PMID 26667666 2015 NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

PMID 25404053 2014 Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

PMID 22004887 2011 Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

PMID 26969326 2016 Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

rs397518022 in LOC102723833;USH2A gene and Usher Syndrome PMID 18641288 2008 Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.

PMID 20507924 2010 Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.