ZFIN ID: ZDB-GENE-060503-794
Gene Name: Usher syndrome 2A (autosomal recessive, mild)
Gene Symbol: ush2a
Sequence Ontology ID : SO:0000704

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Previous Name: si:ch211-279e11.1

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(Including Attributions)
Location: Chr: 17 Mapping Details/Browsers
Nomenclature History
AUTOMATED DESCRIPTION
Involved in eye photoreceptor cell development; predicted to localize to the integral component of membrane; orthologous to human USH2A (usherin).
GENE EXPRESSION
All Expression Data: 3 figures from 2 publications
Wild-type Stages, Structures: Larval:Day 4 (96.0h-120.0h) to Adult (90d-730d, breeding adult)
 
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
b1245 Indel Exon 71 Premature Stop CRISPR
hzu6 Small Deletion Unknown Unknown TALEN
la013102Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • la013103Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • la020061Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • la020062Tg Transgenic Insertion Unknown Unknown DNA
    la020063Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • la027842Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • la027843Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • rmc1 Indel Exon 13 Frameshift, Premature Stop CRISPR
    rmc4Tg Transgenic Insertion Unknown Unknown DNA_AND_CRISPR
    rmc5Tg Transgenic Insertion Unknown Unknown DNA_AND_CRISPR
    sa1881 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa2905 Point Mutation Unknown Premature Stop ENU
    sa11300 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa13155 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa13319 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa14011 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa14237 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa14514 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa16626 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa18585 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa23104 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa23105 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa23106 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa23107 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa25043 Point Mutation Unknown Premature Stop ENU
    sa28877 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa36442 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa36443 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa36444 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa39165 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa39166 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa42957 Point Mutation Unknown Splice Site ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Targeting reagents:
    PHENOTYPE
    Data: 6 figures from 2 publications
    Observed in:
    DISEASE ASSOCIATED WITH ush2a HUMAN ORTHOLOG
    Disease Ontology Term OMIM Term OMIM Phenotype ID
    retinitis pigmentosa 39 Retinitis pigmentosa 39 613809
    Usher syndrome type 2A Usher syndrome, type 2A 276901
    DISEASE ASSOCIATED WITH ush2a VIA EXPERIMENTAL MODELS
    Human Disease Fish Conditions Citations
    Usher syndrome type 2A ush2armc1/rmc1 standard conditions Dona et al., 2018
    ush2ab1245/b1245 standard conditions Dona et al., 2018
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process eye photoreceptor cell development (more)
    Cellular Component integral component of membrane (more)
    GO Terms (all 3)
    PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR000742 (1)
  • InterPro:IPR001791 (1)
  • InterPro:IPR002049 (1)
  • InterPro:IPR003961 (1)
  • InterPro:IPR006558 (1)
  • InterPro:IPR008211 (1)
  • InterPro:IPR013320 (1)
  • InterPro:IPR013783 (1)
  • InterPro:IPR026915 (1)
  • InterPro:IPR036116 (1)
  • InterPro:IPR038684 (1)
  • PROSITE:PS01248 (1)
  • PROSITE:PS50025 (1)
  • PROSITE:PS50027 (1)
  • PROSITE:PS50853 (1)
  • PROSITE:PS51117 (1)
  • Pfam:PF00041 (1)
  • Pfam:PF00053 (1)
  • Pfam:PF00055 (1)
  • Pfam:PF02210 (1)
  • TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA ush2a-001 (1) 15711
    GENE PRODUCT DESCRIPTION
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    PLASMIDSNo data available
    CONSTRUCTS WITH SEQUENCES FROM ush2a No data available
    MARKER RELATIONSHIPS
    ush2aContained in: [BAC] CH211-203P17 (1) (order this), CH211-214O2 (1) (order this), CH211-279E11 (1) (order this), DKEY-46N18 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:XM_009293147 (1)
    Genomic GenBank:AL845481 (1) 237313bp Blast at MegaBLAST
    Polypeptide UniProtKB:Q1MTD2 (1) 5236aa
    Sequence Clusters UniGene:118940 (1)
    Sequence Information (all 16)
    OTHER ush2a GENE PAGES
  • Alliance (1)
  • Gene:568982 (1)
  • VEGA:OTTDARG00000009851 (1)
  • Ensembl(GRCz11):ENSDARG00000029482 (2)
  • ORTHOLOGY for ush2a (Chr: 17)
    CITATIONS (28)