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Gene: USH2A (usherin) Homo sapiens
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Symbol: USH2A
Name: usherin
CRRD ID: 736503
Description: Exhibits collagen binding activity. Involved in several processes, including maintenance of animal organ identity; photoreceptor cell maintenance; and sensory perception of sound. Localizes to basement membrane and cytoplasm. Predicted to colocalize with several cellular components, including neuronal cell body; photoreceptor connecting cilium; and photoreceptor inner segment. Implicated in Usher syndrome (multiple); nonsyndromic deafness; and retinitis pigmentosa (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: dJ1111A8.1; RP39; US2; USH2; usher syndrome 2A; Usher syndrome 2A (autosomal recessive, mild); usher syndrome type IIa protein; usher syndrome type-2A protein
Orthologs:
Mus musculus (house mouse) : Ush2a (usherin)  MGI  Alliance
Rattus norvegicus (Norway rat) : Ush2a (usherin)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Ush2a (usherin)
Pan paniscus (bonobo/pygmy chimpanzee) : USH2A (usherin)
Canis lupus familiaris (dog) : USH2A (usherin)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Ush2a (usherin)
Sus scrofa (pig) : USH2A (usherin)
Chlorocebus sabaeus (African green monkey) : USH2A (usherin)
Heterocephalus glaber (naked mole-rat) : Ush2a (usherin)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1215,622,891 - 216,423,448 (-)EnsemblGRCh38hg38GRCh38
GRCh381215,622,891 - 216,423,448 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371215,796,236 - 216,596,738 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361213,862,859 - 214,663,361 (-)NCBINCBI36hg18NCBI36
Build 341212,735,682 - 212,985,133NCBI
Celera1189,020,056 - 189,820,422 (-)NCBI
Cytogenetic Map1q41NCBI
HuRef1186,470,498 - 187,272,188 (-)NCBIHuRef
CHM1_11217,068,567 - 217,869,890 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model