USH2A
Sign in to saveAlso known as RP39, US2, USH2, dJ1111A8.1, Usher syndrome 2A (autosomal recessive, mild), usherin
gene umano
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
View on Ensembl →
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