Detailed information for PDE6B
Basic information
| Official symbol | PDE6B |
|---|---|
| Official full name | phosphodiesterase 6B, cGMP-specific, rod, beta |
| Location | 4p16.3 |
| Gene type | protein-coding |
| Synonyms | CSNB3|CSNBAD2|PDEB|RP40|rd1 |
| Quick links | Entrez ID:5158; HGNC:8786; MIM:180072; Ensembl:ENSG00000133256; HPRD:01571; Vega:OTTHUMG00000159909 |
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:0060041 | retina development in camera-type eye | 105 | 31 | 1.31 | 23.73 | 1.13e-34 | 1.90e-32 |
| GO:0009583 | detection of light stimulus | 47 | 24 | 0.58 | 41.05 | 4.99e-34 | 7.32e-32 |
| GO:0007423 | sensory organ development | 436 | 48 | 5.42 | 8.85 | 3.27e-32 | 3.84e-30 |
| GO:0009582 | detection of abiotic stimulus | 83 | 27 | 1.03 | 26.15 | 1.40e-31 | 1.49e-29 |
| GO:0001654 | eye development | 276 | 39 | 3.43 | 11.36 | 3.01e-30 | 2.94e-28 |
| GO:0009581 | detection of external stimulus | 100 | 27 | 1.24 | 21.70 | 4.42e-29 | 3.99e-27 |
| 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:0009584 | detection of visible light | 22 | 16 | 0.27 | 58.46 | 1.18e-26 | 7.70e-25 |
| GO:0043010 | camera-type eye development | 237 | 33 | 2.95 | 11.19 | 2.13e-25 | 1.25e-23 |
| 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:0051606 | detection of stimulus | 202 | 27 | 2.51 | 10.74 | 2.10e-20 | 9.13e-19 |
| 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: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:0047555 | 3',5'-cyclic-GMP phosphodiesterase activity | 10 | 5 | 0.11 | 44.95 | 3.87e-08 | 2.80e-06 |
| GO:0004114 | 3',5'-cyclic-nucleotide phosphodiesterase activity | 24 | 5 | 0.27 | 18.73 | 5.75e-06 | 0.0002 |
| GO:0004112 | cyclic-nucleotide phosphodiesterase activity | 25 | 5 | 0.28 | 17.98 | 7.12e-06 | 0.0003 |
| GO:0005488 | binding | 11955 | 150 | 132.97 | 1.13 | 0.0005 | 0.0090 |
| GO:0008081 | phosphoric diester hydrolase activity | 95 | 5 | 1.06 | 4.73 | 0.0042 | 0.0304 |
Pathway related
| Term | Surce | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|---|---|---|---|---|---|---|
| Visual signal transduction: Rods | Pathway commons | 24 | 17 | 0.11 | 157.47 | 2.08e-35 | 2.14e-33 |
| Phototransduction | KEGG | 29 | 12 | 0.13 | 91.99 | 2.36e-21 | 5.66e-20 |
| Purine metabolism | KEGG | 162 | 7 | 0.73 | 9.61 | 9.46e-06 | 0.0001 |
PPI related
| ID | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|---|---|---|---|---|---|
| Hsapiens_Module_142 | 12 | 3 | 0.12 | 24.34 | 0.0002 | 0.0021 |
| Hsapiens_Module_26 | 697 | 16 | 7.16 | 2.24 | 0.0022 | 0.0114 |
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chr4 | 645965 | 665681 | 163500 | "Night blindness, congenital stationary, autosomal dominant 2" | 3 | 180072 | 4p16.3 |
| chr4 | 645965 | 665681 | 613801 | Retinitis pigmentosa-40 | 3 | 180072 | 4p16.3 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr4 | 645965 | 665681 | 5158 | Pde6b | MGI:97525 | MP:0001186 | pigmentation phenotype |
| chr4 | 645965 | 665681 | 5158 | Pde6b | MGI:97525 | MP:0002873 | normal phenotype |
| chr4 | 645965 | 665681 | 5158 | Pde6b | MGI:97525 | MP:0003631 | nervous system phenotype |
| chr4 | 645965 | 665681 | 5158 | Pde6b | MGI:97525 | MP:0005376 | homeostasis/metabolism phenotype |
| chr4 | 645965 | 665681 | 5158 | Pde6b | MGI:97525 | MP:0005377 | hearing/vestibular/ear phenotype |
| chr4 | 645965 | 665681 | 5158 | Pde6b | MGI:97525 | MP:0005378 | growth/size phenotype |
| chr4 | 645965 | 665681 | 5158 | Pde6b | MGI:97525 | MP:0005379 | endocrine/exocrine gland phenotype |
| chr4 | 645965 | 665681 | 5158 | Pde6b | MGI:97525 | MP:0005382 | craniofacial phenotype |
| chr4 | 645965 | 665681 | 5158 | Pde6b | MGI:97525 | MP:0005384 | cellular phenotype |
| chr4 | 645965 | 665681 | 5158 | Pde6b | MGI:97525 | MP:0005385 | cardiovascular system phenotype |
| chr4 | 645965 | 665681 | 5158 | Pde6b | MGI:97525 | MP:0005386 | behavior/neurological phenotype |
| chr4 | 645965 | 665681 | 5158 | Pde6b | MGI:97525 | MP:0005389 | reproductive system phenotype |
| chr4 | 645965 | 665681 | 5158 | Pde6b | MGI:97525 | MP:0005391 | vision/eye phenotype |
| chr4 | 645965 | 665681 | 5158 | Pde6b | MGI:97525 | MP:0005395 | other phenotype |
| chr4 | 645965 | 665681 | 5158 | Pde6b | MGI:97525 | MP:0005397 | hematopoietic system phenotype |
| chr4 | 645965 | 665681 | 5158 | Pde6b | MGI:97525 | MP:0010771 | integument phenotype |
Mutation spectrum
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Gene-disease network
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