USH2A
Sign in to saveAlso known as RP39, US2, USH2, dJ1111A8.1, Usher syndrome 2A (autosomal recessive, mild), usherin
Usherin is a protein that in humans is encoded by the USH2A gene.
Gene data
USH2A- Name
- usherin
- Type
- protein-coding
- Position
- 215,621,576–216,423,448 (−)
- Aliases
- RP39, US2, USH2, dJ1111A8.1
- Ensembl
- ENSG00000042781
- RefSeq RNA
- NM_007123.6, NM_206933.4
- RefSeq protein
- NP_009054.6, NP_996816.3
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].
Gene Ontology
Biological process
Molecular function
via MyGene.info
Gene · Ensembl
usherin
- Symbol
- USH2A
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:215,621,576-216,423,448
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 66151
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/7399
- cytogenetic location
- 1q41
- genomic end
- 216423448
- genomic start
- 215622891
- chromosome
- human chromosome 1
Sources (3)
via Wikidata · CC0
~1 min read
Encyclopedic overview
3 sectionsContents
- References
- Further reading
- External links
Usherin is a protein that in humans is encoded by the USH2A gene.
This gene encodes the protein Usherin that contains laminin EGF motifs, a pentraxin 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.
Excerpted from Wikipedia’s “USH2A” article, available under the CC BY-SA 4.0 licence.