HGNC Family | Phosphodiesterases (PDE) |
Name | phosphodiesterase 6B, cGMP-specific, rod, beta |
Description | Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] |
Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPDE6B encodes the beta‐subunit of the rod photoreceptor cGMP‐phosphodiesterase that is central to phototransduction. Functioning as a catalytic partner in a heterodimer with PDE6A, PDE6B hydrolyzes cGMP in response to light‐induced activation by transducin, thereby mediating rapid reductions in cGMP levels and subsequent closure of cGMP‐gated ion channels. Detailed biochemical studies using chimeric enzymes have demonstrated that the catalytic properties of PDE6B closely mirror those of its partner subunit, while its regulatory and structural domains, including sequences within its promoter and 3′ untranslated region, play important roles in ensuring proper expression in rod photoreceptors."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMultiple genetic investigations have established that mutations in PDE6B are causative for various forms of retinitis pigmentosa (RP), ranging from non‐syndromic autosomal recessive RP to cases compounded by extraocular features. In one family, for example, a novel missense mutation in PDE6B clearly cosegregated with the RP phenotype"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ", while high‐throughput screening approaches and targeted gene panels have expanded the mutation spectrum of PDE6B in diverse populations."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "7", "end_ref": "25"}]}, {"type": "t", "text": " These studies, encompassing a range of clinical and imaging assessments, document the progressive nature of PDE6B‐associated retinal degeneration and underscore the utility of precise genotype–phenotype correlations as well as robust outcome measures for evaluating future therapeutic interventions.\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its established role in retinal signal transduction and disease, broader investigations have sought to refine our understanding of the regulatory mechanisms controlling PDE6B expression and protein stability. For instance, analyses of promoter elements and mRNA regulatory regions have provided insights into tissue‐specific transcriptional control, while ancillary studies in cellular differentiation models suggest that extended signaling networks might influence PDE6B regulation. Such integrated approaches are paving the way for targeted pharmacological strategies aimed at mitigating retinal degeneration due to PDE6B dysfunction."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "26"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Hakim Muradov, Kimberly K Boyd, Nikolai O Artemyev "}, {"type": "b", "children": [{"type": "t", "text": "Rod phosphodiesterase-6 PDE6A and PDE6B subunits are enzymatically equivalent."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M110.170068"}], "href": "https://doi.org/10.1074/jbc.M110.170068"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20940301"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20940301"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Leonid E Lerner, Yekaterina E Gribanova, Leigh Whitaker, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The rod cGMP-phosphodiesterase beta-subunit promoter is a specific target for Sp4 and is not activated by other Sp proteins or CRX."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M201407200"}], "href": "https://doi.org/10.1074/jbc.M201407200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11943774"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11943774"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Karyn B Cahill, Jonathan H Quade, Karen L Carleton, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of amino acid residues responsible for the selectivity of tadalafil binding to two closely related phosphodiesterases, PDE5 and PDE6."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M112.389189"}], "href": "https://doi.org/10.1074/jbc.M112.389189"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23033484"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23033484"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Rick H Cote, Richa Gupta, Michael J Irwin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Photoreceptor Phosphodiesterase (PDE6): Structure, Regulatory Mechanisms, and Implications for Treatment of Retinal Diseases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Adv Exp Med Biol (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/5584_2021_649"}], "href": "https://doi.org/10.1007/5584_2021_649"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34170501"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34170501"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Mark R Verardo, Andrea Viczian, Natik Piri, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Regulatory sequences in the 3' untranslated region of the human cGMP-phosphodiesterase beta-subunit gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Invest Ophthalmol Vis Sci (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1167/iovs.08-2010"}], "href": "https://doi.org/10.1167/iovs.08-2010"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19218616"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19218616"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Mounira Hmani-Aifa, Zeineb Benzina, Fareeha Zulfiqar, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ejhg.2008.167"}], "href": "https://doi.org/10.1038/ejhg.2008.167"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18854872"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18854872"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Graeme Richard Clark, Paul Crowe, Dorota Muszynska, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ophthalmology (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ophtha.2010.02.029"}], "href": "https://doi.org/10.1016/j.ophtha.2010.02.029"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20591486"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20591486"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Samer Khateb, Marco Nassisi, Kinga M Bujakowska, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "JAMA Ophthalmol (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1001/jamaophthalmol.2018.6367"}], "href": "https://doi.org/10.1001/jamaophthalmol.2018.6367"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30998820"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30998820"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Cinoo Kim, Kwang Joong Kim, Jeong Bok, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Vis (2012)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23049240"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23049240"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Vitor K L Takahashi, Júlia T Takiuti, Ruben Jauregui, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structural disease progression in PDE6-associated autosomal recessive retinitis pigmentosa."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ophthalmic Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/13816810.2018.1509354"}], "href": "https://doi.org/10.1080/13816810.2018.1509354"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30153077"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30153077"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Shahbaz Ali, S Amer Riazuddin, Amber Shahzadi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Vis (2011)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21655355"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21655355"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Nitza Goldenberg-Cohen, Eyal Banin, Yael Zalzstein, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic heterogeneity and consanguinity lead to a \"double hit\": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Vis (2013)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23882135"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23882135"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Sherry Shen, Tharikarn Sujirakul, Stephen H Tsang "}, {"type": "b", "children": [{"type": "t", "text": "Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ophthalmic Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3109/13816810.2014.915328"}], "href": "https://doi.org/10.3109/13816810.2014.915328"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24828262"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24828262"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Andrea L Vincent, Nandoun Abeysekera, Katherine A van Bysterveldt, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Exp Ophthalmol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/ceo.12983"}], "href": "https://doi.org/10.1111/ceo.12983"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28488341"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28488341"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Laura Kuehlewein, Ditta Zobor, Katarina Stingl, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clinical Phenotype of "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "PDE6B"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": "-Associated Retinitis Pigmentosa."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Mol Sci (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/ijms22052374"}], "href": "https://doi.org/10.3390/ijms22052374"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33673512"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33673512"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Yasmin Tatour, Jonathan Tamaiev, Shamaly Shamaly, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel intronic mutation of "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "PDE6B"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Vis (2019)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30820151"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30820151"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "You Na Kim, Joon Seon Song, Seak Hee Oh, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-020-75902-z"}], "href": "https://doi.org/10.1038/s41598-020-75902-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33177553"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33177553"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Yuyu Li, Ruyi Li, Hehua Dai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Ophthalmol (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12886-021-02242-5"}], "href": "https://doi.org/10.1186/s12886-021-02242-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35033039"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35033039"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Aymane Bouzidi, Majida Charif, Adil Bouzidi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Vis (2021)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33633436"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33633436"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Kazuki Kuniyoshi, Hiroyuki Sakuramoto, Kazutoshi Yoshitake, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Doc Ophthalmol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10633-015-9497-7"}], "href": "https://doi.org/10.1007/s10633-015-9497-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25827439"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25827439"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "Nobia Aziz, Mukhtar Ullah, Abdur Rashid, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Ophthalmol (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12886-023-02845-0"}], "href": "https://doi.org/10.1186/s12886-023-02845-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36959549"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36959549"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "Yun Cui, Li Wang, Kan-xing Zhao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Screening gene mutations of the beta subunit of phosphodiesterase in the Chinese retinitis pigmentosa patients]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Yi Xue Yi Chuan Xue Za Zhi (2003)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12778443"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12778443"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "Yun Cui, Kan-xing Zhao, Li Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[A study of PDE6B gene mutation and phenotype in Chinese cases with retinitis pigmentosa]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Yan Ke Za Zhi (2003)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12760810"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12760810"}]}, {"type": "r", "ref": 24, "children": [{"type": "t", "text": "Riccardo Sangermano, Pooja Biswas, Lori S Sullivan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of a novel large multigene deletion and a frameshift indel in "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "PDE6B"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " as the underlying cause of early-onset recessive rod-cone degeneration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cold Spring Harb Mol Case Stud (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1101/mcs.a006247"}], "href": "https://doi.org/10.1101/mcs.a006247"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36376065"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36376065"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Mukhtar Ullah, Atta Ur Rehman, Marc Folcher, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ophthalmic Res (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1159/000530800"}], "href": "https://doi.org/10.1159/000530800"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37094557"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37094557"}]}, {"type": "r", "ref": 26, "children": [{"type": "t", "text": "Dong Hyeon Lee, Jung Jae Ko, Young Geon Ji, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Proteomic identification of RREB1, PDE6B, and CD209 up-regulated in primitive gut tube differentiated from human embryonic stem cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pancreas (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/MPA.0b013e3182223e35"}], "href": "https://doi.org/10.1097/MPA.0b013e3182223e35"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21792086"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21792086"}]}]}]}
|
Synonyms | RD1, CSNB3, PDEB, GMP-PDEbeta, RP40, CSNBAD2 |
Proteins | PDE6B_HUMAN |
NCBI Gene ID | 5158 |
API | |
Download Associations | |
Predicted Functions |
![]() |
Co-expressed Genes |
![]() |
Expression in Tissues and Cell Lines |
![]() |
PDE6B has 5,052 functional associations with biological entities spanning 8 categories (molecular profile, organism, functional term, phrase or reference, disease, phenotype or trait, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 107 datasets.
Click the + buttons to view associations for PDE6B from the datasets below.
If available, associations are ranked by standardized value
Dataset | Summary | |
---|---|---|
Achilles Cell Line Gene Essentiality Profiles | cell lines with fitness changed by PDE6B gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset. | |
Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of PDE6B gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles | tissues with high or low expression of PDE6B gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. | |
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray | tissue samples with high or low expression of PDE6B gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset. | |
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq | tissue samples with high or low expression of PDE6B gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset. | |
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of PDE6B gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
Biocarta Pathways | pathways involving PDE6B protein from the Biocarta Pathways dataset. | |
BioGPS Cell Line Gene Expression Profiles | cell lines with high or low expression of PDE6B gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset. | |
BioGPS Human Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of PDE6B gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. | |
BioGPS Mouse Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of PDE6B gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. | |
CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of PDE6B gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
CCLE Cell Line Gene Expression Profiles | cell lines with high or low expression of PDE6B gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
CellMarker Gene-Cell Type Associations | cell types associated with PDE6B gene from the CellMarker Gene-Cell Type Associations dataset. | |
ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of PDE6B gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
ChEA Transcription Factor Targets | transcription factors binding the promoter of PDE6B gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of PDE6B gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
ClinVar Gene-Phenotype Associations | phenotypes associated with PDE6B gene from the curated ClinVar Gene-Phenotype Associations dataset. | |
CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of PDE6B gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing PDE6B protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing PDE6B protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with PDE6B protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with PDE6B protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of PDE6B gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
COSMIC Cell Line Gene Mutation Profiles | cell lines with PDE6B gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
CTD Gene-Chemical Interactions | chemicals interacting with PDE6B gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
CTD Gene-Disease Associations | diseases associated with PDE6B gene/protein from the curated CTD Gene-Disease Associations dataset. | |
DepMap CRISPR Gene Dependency | cell lines with fitness changed by PDE6B gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
DISEASES Curated Gene-Disease Association Evidence Scores | diseases involving PDE6B gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. | |
DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving PDE6B gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with PDE6B gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with PDE6B gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
DisGeNET Gene-Disease Associations | diseases associated with PDE6B gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
DisGeNET Gene-Phenotype Associations | phenotypes associated with PDE6B gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
DrugBank Drug Targets | interacting drugs for PDE6B protein from the curated DrugBank Drug Targets dataset. | |
ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at PDE6B gene from the ENCODE Histone Modification Site Profiles dataset. | |
ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of PDE6B gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
ENCODE Transcription Factor Targets | transcription factors binding the promoter of PDE6B gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
ESCAPE Omics Signatures of Genes and Proteins for Stem Cells | PubMedIDs of publications reporting gene signatures containing PDE6B from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
GAD Gene-Disease Associations | diseases associated with PDE6B gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. | |
GAD High Level Gene-Disease Associations | diseases associated with PDE6B gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset. | |
GDSC Cell Line Gene Expression Profiles | cell lines with high or low expression of PDE6B gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset. | |
GeneRIF Biological Term Annotations | biological terms co-occuring with PDE6B gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing PDE6B from the GeneSigDB Published Gene Signatures dataset. | |
GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of PDE6B gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of PDE6B gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of PDE6B gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of PDE6B gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of PDE6B gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of PDE6B gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
GO Biological Process Annotations 2015 | biological processes involving PDE6B gene from the curated GO Biological Process Annotations 2015 dataset. | |
GO Biological Process Annotations 2023 | biological processes involving PDE6B gene from the curated GO Biological Process Annotations 2023 dataset. | |
GO Biological Process Annotations 2025 | biological processes involving PDE6B gene from the curated GO Biological Process Annotations2025 dataset. | |
GO Cellular Component Annotations 2015 | cellular components containing PDE6B protein from the curated GO Cellular Component Annotations 2015 dataset. | |
GO Molecular Function Annotations 2015 | molecular functions performed by PDE6B gene from the curated GO Molecular Function Annotations 2015 dataset. | |
GO Molecular Function Annotations 2025 | molecular functions performed by PDE6B gene from the curated GO Molecular Function Annotations 2025 dataset. | |
GTEx Tissue Gene Expression Profiles | tissues with high or low expression of PDE6B gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of PDE6B gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of PDE6B gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of PDE6B gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles | cell lines with high or low expression of PDE6B gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset. | |
HMDB Metabolites of Enzymes | interacting metabolites for PDE6B protein from the curated HMDB Metabolites of Enzymes dataset. | |
HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of PDE6B gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset. | |
HPA Tissue Gene Expression Profiles | tissues with high or low expression of PDE6B gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of PDE6B gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
HPO Gene-Disease Associations | phenotypes associated with PDE6B gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. | |
HuGE Navigator Gene-Phenotype Associations | phenotypes associated with PDE6B gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by PDE6B gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
InterPro Predicted Protein Domain Annotations | protein domains predicted for PDE6B protein from the InterPro Predicted Protein Domain Annotations dataset. | |
JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of PDE6B gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of PDE6B gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles | cell lines with high or low expression of PDE6B gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles | cell lines with PDE6B gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. | |
KnockTF Gene Expression Profiles with Transcription Factor Perturbations | transcription factor perturbations changing expression of PDE6B gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of PDE6B gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
LOCATE Curated Protein Localization Annotations | cellular components containing PDE6B protein in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset. | |
LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain PDE6B protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by PDE6B gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of PDE6B gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
MPO Gene-Phenotype Associations | phenotypes of transgenic mice caused by PDE6B gene mutations from the MPO Gene-Phenotype Associations dataset. | |
MSigDB Cancer Gene Co-expression Modules | co-expressed genes for PDE6B from the MSigDB Cancer Gene Co-expression Modules dataset. | |
MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations | gene perturbations changing expression of PDE6B gene from the MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations dataset. | |
OMIM Gene-Disease Associations | phenotypes associated with PDE6B gene from the curated OMIM Gene-Disease Associations dataset. | |
PANTHER Pathways | pathways involving PDE6B protein from the PANTHER Pathways dataset. | |
Pathway Commons Protein-Protein Interactions | interacting proteins for PDE6B from the Pathway Commons Protein-Protein Interactions dataset. | |
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of PDE6B gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations | gene perturbations changing expression of PDE6B gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
PFOCR Pathway Figure Associations 2023 | pathways involving PDE6B protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
PFOCR Pathway Figure Associations 2024 | pathways involving PDE6B protein from the Wikipathways PFOCR 2024 dataset. | |
PID Pathways | pathways involving PDE6B protein from the PID Pathways dataset. | |
Reactome Pathways 2014 | pathways involving PDE6B protein from the Reactome Pathways dataset. | |
Reactome Pathways 2024 | pathways involving PDE6B protein from the Reactome Pathways 2024 dataset. | |
Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles | cell types and tissues with high or low DNA methylation of PDE6B gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset. | |
Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at PDE6B gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of PDE6B gene from the RummaGEO Drug Perturbation Signatures dataset. | |
RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of PDE6B gene from the RummaGEO Gene Perturbation Signatures dataset. | |
Tabula Sapiens Gene-Cell Associations | cell types with high or low expression of PDE6B gene relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset. | |
TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of PDE6B gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of PDE6B gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of PDE6B gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
TISSUES Curated Tissue Protein Expression Evidence Scores | tissues with high expression of PDE6B protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of PDE6B protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
TISSUES Experimental Tissue Protein Expression Evidence Scores | tissues with high expression of PDE6B protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of PDE6B protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with PDE6B protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with PDE6B protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
WikiPathways Pathways 2014 | pathways involving PDE6B protein from the Wikipathways Pathways 2014 dataset. | |
WikiPathways Pathways 2024 | pathways involving PDE6B protein from the WikiPathways Pathways 2024 dataset. | |