USH2A - Gene Detail
Contact
Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene Symbol | USH2A | ||||||||||||
| Synonyms | dJ1111A8.1 | RP39 | US2 | USH2 | ||||||||||||
| Gene Description | USH2A, usherin, encodes a basement membrane protein whose function is unclear but appears to be important in cochlear and retinal development (PMID: 11788194). Germline mutations in USH2A are commonly reported in Usher syndrome (PMID: 32093671) and in non-syndromic retinitis pigmentosa (PMID: 31904091), and mutations in various cancers have also been reported (PMID: 11788194, Cancer Res April 15, 2012 72; 3959). | ||||||||||||
|
|||||||||||||
Additional content available in
CKB BOOST
CKB BOOST
Comparison of CKB Offerings
KEY FEATURES
CKB BOOSTTM
Access 50 genes & related content
Access 2000+ genes & related content
Scalable & flexible content integration for 2000+ genes
Genes
(50 Genes)
(2000+ Genes)
Gene Variants
Therapies
Limited
Global Drug Approvals
Drug Classes
Limited
Clinical Trials
Limited
Efficacy Evidence
Variant Tier Coding
(AMP/CAP/ASCO)
(AMP/CAP/ASCO)
Advanced Search Capability
System Integration
More about our plans
The public access version, CKB CORE™, encompasses 50 cancer-related genes, and every quarter, a
select group of genes are exchanged, focusing on a specific theme. Users can search CKB CORE™ via
gene and gene variants. The web-based, subscription version, CKB BOOST™, includes more than 2000
cancer-related genes and is designed to interrogate the knowledgebase for specific data attributes
while enabling a robust browse-like feature when the desired content is unknown.
Downloadable data from CKB is available using the FLEX version. CKB FLEX delivers CKB content as a
flat file or JSON, enabling CKB data integration.
Visit
CKB BOOST
for more information.
Contact: ckbsupport@genomenon.com
CKB BOOST
for more information.
Contact: ckbsupport@genomenon.com