USH2A usherin
Gene ID: 7399, updated on 7-Apr-2024Gene type: protein coding
Also known as: US2; RP39; USH2; dJ1111A8.1
- See all available tests in GTR for this gene
- Go to complete Gene record for USH2A
- Go to Variation Viewer for USH2A variants
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. [provided by RefSeq, Dec 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Dissecting the genetics of chronic mucus hypersecretion in smokers with and without COPD. GeneReviews: Not available | |
| Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. GeneReviews: Not available | |
| Retinitis pigmentosa 39 | See labs |
| Usher syndrome type 2A | See labs |
Genomic context
- Location:
- 1q41
- Sequence:
- Chromosome: 1; NC_000001.11 (215622891..216423448, complement)
- Total number of exons:
- 72
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for USH2A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CCHMC - Human Genetics Mutation Database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- USH2A @ LOVD
- Variation ViewerRelated Variants
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