Detailed information for ABCC6
Basic information
| Official symbol | ABCC6 |
|---|---|
| Official full name | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 |
| Location | 16p13.1 |
| Gene type | protein-coding |
| Synonyms | ABC34|ARA|EST349056|GACI2|MLP1|MOAT-E|MOATE|MRP6|PXE|PXE1|URG7 |
| Quick links | Entrez ID:368; HGNC:57; MIM:603234; Ensembl:ENSG00000091262; HPRD:04453; Vega:OTTHUMG00000129967 |
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:0044699 | single-organism process | 7682 | 152 | 95.57 | 1.59 | 9.26e-19 | 3.88e-17 |
| 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 |
|---|
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 |
|---|---|---|---|---|---|---|---|
| chr16 | 16314043 | 16318328 | 614473 | "Arterial calcification, generalized, of infancy, 2" | 3 | 603234 | 16p13.11 |
| chr16 | 16314043 | 16318328 | 264800 | Pseudoxanthoma elasticum | 3 | 603234 | 16p13.11 |
| chr16 | 16314043 | 16318328 | 177850 | "Pseudoxanthoma elasticum, forme fruste" | 3 | 603234 | 16p13.11 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr16 | 16314043 | 16318328 | 368 | Abcc6 | MGI:1351634 | MP:0005367 | renal/urinary system phenotype |
| chr16 | 16314043 | 16318328 | 368 | Abcc6 | MGI:1351634 | MP:0005376 | homeostasis/metabolism phenotype |
| chr16 | 16314043 | 16318328 | 368 | Abcc6 | MGI:1351634 | MP:0005385 | cardiovascular system phenotype |
| chr16 | 16314043 | 16318328 | 368 | Abcc6 | MGI:1351634 | MP:0005391 | vision/eye phenotype |
| chr16 | 16314043 | 16318328 | 368 | Abcc6 | MGI:1351634 | MP:0005395 | other phenotype |
| chr16 | 16314043 | 16318328 | 368 | Abcc6 | MGI:1351634 | MP:0010771 | integument phenotype |
Mutation spectrum
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Gene-disease network
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