Gene
pde6b
- ID
- ZDB-GENE-090421-2
- Name
- phosphodiesterase 6B, cGMP-specific, rod, beta
- Symbol
- pde6b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to enable 3',5'-cyclic-AMP phosphodiesterase activity and 3',5'-cyclic-GMP phosphodiesterase activity. Predicted to be involved in cAMP-mediated signaling and retina development in camera-type eye. Predicted to act upstream of or within signal transduction. Predicted to be active in photoreceptor outer segment membrane. Is expressed in eye; retinal neural layer; retinal photoreceptor layer; and retinal rod cell. Human ortholog(s) of this gene implicated in congenital stationary night blindness autosomal dominant 2 and retinitis pigmentosa 40. Orthologous to human PDE6B (phosphodiesterase 6B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa43623 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-pde6b | (2) | |
| CRISPR2-pde6b | (2) | |
| MO1-pde6b | N/A | Nakao et al., 2012 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital stationary night blindness autosomal dominant 2 | Alliance | Night blindness, congenital stationary, autosomal dominant 2 | 163500 |
| retinitis pigmentosa 40 | Alliance | Retinitis pigmentosa-40 | 613801 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR023174 | 3'5'-cyclic nucleotide phosphodiesterase, conserved site |
| Domain | IPR002073 | 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain |
| Domain | IPR003018 | GAF domain |
| Domain | IPR003607 | HD/PDEase domain |
| Family | IPR023088 | 3'5'-cyclic nucleotide phosphodiesterase |
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Domain Details Per Protein
| Protein | Additional Resources | Length | 3'5'-cyclic nucleotide phosphodiesterase | 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain | 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain superfamily | 3'5'-cyclic nucleotide phosphodiesterase, conserved site | GAF domain | GAF-like domain superfamily | HD/PDEase domain |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:E7F5I9 | InterPro | 854 |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-pde6b | polyclonal | IgG | Rabbit |
|
Proteintech
|
3 |
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Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-30K6 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_679910 (1) | 3966 nt | ||
| Genomic | GenBank:AL844141 (1) | 257634 nt | ||
| Polypeptide | UniProtKB:E7F5I9 (1) | 854 aa |
- Liu, X., Han, S., Liu, F., Yu, S., Qin, Y., Li, J., Jia, D., Gao, P., Chen, X., Tang, Z., Liu, M., Huang, Y. (2023) Retinal degeneration in rpgra mutant zebrafish. Frontiers in cell and developmental biology. 11:11699411169941
- Ulhaq, Z.S., Okamoto, K., Ogino, Y., Fai Tse, W.K. (2023) Dysregulation of spliceosomes complex induces retinitis pigmentosa-like characteristics in sf3b4-depleted zebrafish. The American journal of pathology. 193(9):1223-1233
- Wei, X.Y., Jia, P.P., Hu, H., Liu, L., Li, T.Y., Li, Y.Z., Pei, D.S. (2023) Multi-omics reveal mechanisms underlying chronic kidney disease of unknown etiology (CKDu) pathogenesis using zebrafish. Environmental pollution (Barking, Essex : 1987). 337:122524
- Gao, M., Hu, J., Zhu, Y., Wang, X., Zeng, S., Hong, Y., Zhao, G. (2022) Ferroptosis and Apoptosis Are Involved in the Formation of L-Selenomethionine-Induced Ocular Defects in Zebrafish Embryos. International Journal of Molecular Sciences. 23(9)
- Crouzier, L., Diez, C., Richard, E.M., Cubedo, N., Barbereau, C., Rossel, M., Delaunay, T., Maurice, T., Delprat, B. (2021) Loss of Pde6a Induces Rod Outer Segment Shrinkage and Visual Alterations in pde6aQ70X Mutant Zebrafish, a Relevant Model of Retinal Dystrophy. Frontiers in cell and developmental biology. 9:675517
- Abalo, X.M., Lagman, D., Heras, G., Del Pozo, A., Eggert, J., Larhammar, D. (2019) Circadian regulation of phosphodiesterase 6 genes in zebrafish differs between cones and rods: Implications for photopic and scotopic vision. Vision Research. 166:43-51
- Xie, S., Han, S., Qu, Z., Liu, F., Li, J., Yu, S., Reilly, J., Tu, J., Liu, X., Lu, Z., Hu, X., Yimer, T.A., Qin, Y., Huang, Y., Lv, Y., Jiang, T., Shu, X., Tang, Z., Jia, H., Wong, F., Liu, M. (2019) Knockout of Nr2e3 prevents rod photoreceptor differentiation and leads to selective L-/M-cone photoreceptor degeneration in zebrafish. Biochimica et biophysica acta. Molecular basis of disease. 1865(6):1273-1283
- Unal Eroglu, A., Mulligan, T.S., Zhang, L., White, D.T., Sengupta, S., Nie, C., Lu, N.Y., Qian, J., Xu, L., Pei, W., Burgess, S.M., Saxena, M.T., Mumm, J.S. (2018) Multiplexed CRISPR/Cas9 Targeting of Genes Implicated in Retinal Regeneration and Degeneration. Frontiers in cell and developmental biology. 6:88
- Liu, F., Qin, Y., Yu, S., Soares, D.C., Yang, L., Weng, J., Li, C., Gao, M., Lu, Z., Hu, X., Liu, X., Jiang, T., Liu, J.Y., Shu, X., Tang, Z., Liu, M. (2017) Pathogenic Mutations in Retinitis Pigmentosa 2 Predominantly Result in Loss of RP2 Protein Stability in Human and Zebrafish. The Journal of biological chemistry. 292(15):6225-6239
- Lu, Z., Hu, X., Liu, F., Soares, D.C., Liu, X., Yu, S., Gao, M., Han, S., Qin, Y., Li, C., Jiang, T., Luo, D., Guo, A.Y., Tang, Z., Liu, M. (2017) Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy. Scientific Reports. 7:46098
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