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    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4583
    • SNVs : 3411
    • InDels : 1172
    • Last Update : 05/11/2017

    Detailed information for USH2A






    Basic information
    Official symbol USH2A
    Official full name Usher syndrome 2A (autosomal recessive, mild)
    Location 1q41
    Gene type protein-coding
    Synonyms RP39|US2|USH2|dJ1111A8.1
    Quick links Entrez ID:7399; HGNC:12601; MIM:608400; Ensembl:ENSG00000042781; HPRD:02042; Vega:09759
    GO related
    GO term accession GO term name Number of reference genes Number of genes Expected number Ratio of enrichment P-value Adjusted P-Value
    GO:0050953 sensory perception of light stimulus 205 100 2.55 39.21 8.72e-146 1.02e-142
    GO:0007601 visual perception 204 99 2.54 39.01 7.39e-144 4.34e-141
    GO:0007600 sensory perception 495 103 6.16 16.73 4.54e-105 1.78e-102
    GO:0050877 neurological system process 1237 106 15.39 6.89 1.82e-66 5.34e-64
    GO:0003008 system process 1695 108 21.09 5.12 1.12e-54 2.63e-52
    GO:0045494 photoreceptor cell maintenance 25 22 0.31 70.74 7.36e-40 1.44e-37
    GO:0043954 cellular component maintenance 38 22 0.47 46.54 6.20e-33 8.09e-31
    GO:0007423 sensory organ development 436 48 5.42 8.85 3.27e-32 3.84e-30
    GO:0044707 single-multicellular organism process 5612 143 69.81 2.05 9.21e-29 7.72e-27
    GO:0032501 multicellular organismal process 5644 143 70.21 2.04 1.83e-28 1.43e-26
    GO:0044699 single-organism process 7682 152 95.57 1.59 9.26e-19 3.88e-17
    GO:0048856 anatomical structure development 4030 102 50.13 2.03 4.19e-16 1.33e-14
    GO:0032502 developmental process 4572 104 56.88 1.83 3.53e-13 1.04e-11
    GO:0005488 binding 11955 150 132.97 1.13 0.0005 0.0090
    GO:0005515 protein binding 7337 102 81.61 1.25 0.0011 0.0149
    GO:0017022 myosin binding 29 3 0.32 9.30 0.0040 0.0304
    GO:0042995 cell projection 1230 67 13.42 4.99 5.15e-30 2.02e-28
    GO:0044463 cell projection part 639 42 6.97 6.03 2.11e-21 5.17e-20
    GO:0032420 stereocilium 23 8 0.25 31.89 7.34e-11 9.59e-10
    GO:0032421 stereocilium bundle 27 8 0.29 27.17 3.20e-10 3.48e-09
    GO:0005902 microvillus 68 10 0.74 13.48 3.14e-09 3.24e-08
    GO:0002139 stereocilia coupling link 4 3 0.04 68.76 5.07e-06 3.31e-05
    GO:0002141 stereocilia ankle link 4 3 0.04 68.76 5.07e-06 3.31e-05
    GO:0002142 stereocilia ankle link complex 4 3 0.04 68.76 5.07e-06 3.31e-05
    GO:0031253 cell projection membrane 187 11 2.04 5.39 6.65e-06 4.07e-05
    GO:0044459 plasma membrane part 1918 41 20.92 1.96 1.68e-05 9.98e-05
    GO:0005578 proteinaceous extracellular matrix 360 14 3.93 3.57 4.22e-05 0.0002
    GO:0031012 extracellular matrix 426 15 4.65 3.23 6.94e-05 0.0004
    Pathway related
    Term Surce Number of reference genes Number of genes Expected number Ratio of enrichment P-value Adjusted P-value
    PPI related
    ID Number of reference genes Number of genes Expected number Ratio of enrichment P-value Adjusted P-value
    OMIM related
    chromosome begin end disorder MIM number disorder phene mapping key gene/locus MIM number cytogenetic loaction
    chr1 216346291 216597738 613809 Retinitis pigmentosa 39 3 608400 1q41
    chr1 216346291 216597738 276901 "Usher syndrome, type 2A" 3 608400 1q41
    MGI related
    chromosome begin end gene ID gene symbol of mouse MGI MP phenotype description
    chr1 216346291 216597738 7399 Ush2a MGI:1341292 MP:0003631 nervous system phenotype
    chr1 216346291 216597738 7399 Ush2a MGI:1341292 MP:0005377 hearing/vestibular/ear phenotype
    chr1 216346291 216597738 7399 Ush2a MGI:1341292 MP:0005391 vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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