Detailed information for ABCA4
Basic information
| Official symbol | ABCA4 |
|---|---|
| Official full name | ATP-binding cassette, sub-family A (ABC1), member 4 |
| Location | 1p22 |
| Gene type | protein-coding |
| Synonyms | ABC10|ABCR|ARMD2|CORD3|FFM|RMP|RP19|STGD|STGD1 |
| Quick links | Entrez ID:24; HGNC:34; MIM:601691; Ensembl:ENSG00000198691; HPRD:03408; Vega:OTTHUMG00000010622 |
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: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:0007602 | phototransduction | 37 | 18 | 0.46 | 39.11 | 3.11e-25 | 1.74e-23 |
| GO:0009416 | response to light stimulus | 203 | 29 | 2.53 | 11.48 | 1.06e-22 | 5.41e-21 |
| GO:0044699 | single-organism process | 7682 | 152 | 95.57 | 1.59 | 9.26e-19 | 3.88e-17 |
| GO:0009314 | response to radiation | 319 | 29 | 3.97 | 7.31 | 3.46e-17 | 1.35e-15 |
| GO:0007603 | phototransduction, visible light | 11 | 9 | 0.14 | 65.77 | 3.15e-16 | 1.03e-14 |
| GO:0005488 | binding | 11955 | 150 | 132.97 | 1.13 | 0.0005 | 0.0090 |
| GO:0043168 | anion binding | 2402 | 40 | 26.72 | 1.50 | 0.0048 | 0.0336 |
| GO:0044459 | plasma membrane part | 1918 | 41 | 20.92 | 1.96 | 1.68e-05 | 9.98e-05 |
Pathway related
| Term | Surce | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|---|---|---|---|---|---|---|
| ABC-family proteins mediated transport | Pathway commons | 25 | 2 | 0.11 | 17.78 | 0.0056 | 0.0267 |
| ABC transporters | KEGG | 44 | 2 | 0.20 | 10.10 | 0.0168 | 0.0367 |
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 | 94457393 | 94587705 | 604116 | Cone-rod dystrophy 3 | 3 | 601691 | 1p22.1 |
| chr1 | 94457393 | 94587705 | 248200 | Fundus flavimaculatus | 3 | 601691 | 1p22.1 |
| chr1 | 94457393 | 94587705 | 153800 | "Macular degeneration, age-related, 2" | 3 | 601691 | 1p22.1 |
| chr1 | 94457393 | 94587705 | 248200 | "Retinal dystrophy, early-onset severe" | 3 | 601691 | 1p22.1 |
| chr1 | 94457393 | 94587705 | 601718 | Retinitis pigmentosa 19 | 3 | 601691 | 1p22.1 |
| chr1 | 94457393 | 94587705 | 248200 | Stargardt disease 1 | 3 | 601691 | 1p22.1 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr1 | 94457393 | 94587705 | 24 | Abca4 | MGI:109424 | MP:0001186 | pigmentation phenotype |
| chr1 | 94457393 | 94587705 | 24 | Abca4 | MGI:109424 | MP:0003012 | no phenotypic analysis |
| chr1 | 94457393 | 94587705 | 24 | Abca4 | MGI:109424 | MP:0003631 | nervous system phenotype |
| chr1 | 94457393 | 94587705 | 24 | Abca4 | MGI:109424 | MP:0005376 | homeostasis/metabolism phenotype |
| chr1 | 94457393 | 94587705 | 24 | Abca4 | MGI:109424 | MP:0005385 | cardiovascular system phenotype |
| chr1 | 94457393 | 94587705 | 24 | Abca4 | MGI:109424 | MP:0005391 | vision/eye phenotype |
Mutation spectrum
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Gene-disease network
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