AutismKB 2.0

Annotation Details for USH2A


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Basic Information Top
Gene Symbol:USH2A ( RP39,US2,USH2,dJ1111A8.1 )
Gene Full Name: Usher syndrome 2A (autosomal recessive, mild)
Band: 1q41
Quick LinksEntrez ID:7399; OMIM: 608400; Uniprot ID:USH2A_HUMAN; ENSEMBL ID: ENSG00000042781; HGNC ID: 12601
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001917IEA-photoreceptor inner segment-
GO:0002142ISS-stereocilia ankle link complex-
GO:0005604IDA-basement membrane12433396
GO:0005737IDA-cytoplasm16434480
GO:0016021IEA-integral component of membrane-
GO:0016324ISS-apical plasma membrane-
GO:0032391IEA-photoreceptor connecting cilium-
GO:0032421ISS-stereocilium bundle-
GO:0036064IEA-ciliary basal body-
GO:0060171ISS-stereocilium membrane-
GO:1990075IEA-periciliary membrane compartment-
GO:1990696IEA-USH2 complex-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding16301216
GO:0005518IDA-collagen binding14676276
GO:0017022ISS-myosin binding-
GO:0042803IEA-protein homodimerization activity-
GO ID Evidence Qualifier GO_term References
GO:0007601IEA-visual perception-
GO:0007605IMP-sensory perception of sound10090909
GO:0035315ISS-hair cell differentiation-
GO:0045184IEA-establishment of protein localization-
GO:0045494IMP-photoreceptor cell maintenance10090909
GO:0048496IMP-maintenance of animal organ identity15671307
GO:0050896IEA-response to stimulus-
GO:0050953IMP-sensory perception of light stimulus10090909
GO:0060113ISS-inner ear receptor cell differentiation-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1341292
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-060503-794'