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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