Details for: PDE6H

Gene ID: 5149

Symbol: PDE6H

Ensembl ID: ENSG00000139053

Description: phosphodiesterase 6H

Associated with

  • Calmodulin-activated 3',5'-cyclic-gmp phosphodiesterase activity
    (GO:0048101)
  • Calmodulin-activated dual specificity 3',5'-cyclic-gmp, 3',5'-cyclic-amp phosphodiesterase activity
    (GO:0004117)
  • Cgmp binding
    (GO:0030553)
  • Enzyme inhibitor activity
    (GO:0004857)
  • Photoreceptor outer segment membrane
    (GO:0042622)
  • Positive regulation of epidermal growth factor receptor signaling pathway
    (GO:0045742)
  • Positive regulation of g protein-coupled receptor signaling pathway
    (GO:0045745)
  • Positive regulation of mapk cascade
    (GO:0043410)
  • Protein binding
    (GO:0005515)
  • Visual perception
    (GO:0007601)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 14.0795
    Cell Significance Index: -2.1900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 8.7524
    Cell Significance Index: -2.2200
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 5.7511
    Cell Significance Index: 80.7800
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 2.1840
    Cell Significance Index: 13.5700
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 1.9683
    Cell Significance Index: 22.7900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.7952
    Cell Significance Index: 21.4000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 1.7681
    Cell Significance Index: -2.1800
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 1.5724
    Cell Significance Index: 19.6300
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 1.0333
    Cell Significance Index: 7.9500
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.8855
    Cell Significance Index: 7.8000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.8738
    Cell Significance Index: 55.0700
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.5449
    Cell Significance Index: 4.2000
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.4620
    Cell Significance Index: 5.6000
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.3148
    Cell Significance Index: 5.0000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.2221
    Cell Significance Index: 3.0300
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.1811
    Cell Significance Index: 2.6300
  • Cell Name: flat midget bipolar cell (CL4033033)
    Fold Change: 0.1629
    Cell Significance Index: 2.0300
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.1451
    Cell Significance Index: 1.5600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.1095
    Cell Significance Index: 5.7500
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.0911
    Cell Significance Index: 1.1300
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 0.0549
    Cell Significance Index: 0.6200
  • Cell Name: amacrine cell (CL0000561)
    Fold Change: 0.0543
    Cell Significance Index: 0.6800
  • Cell Name: invaginating midget bipolar cell (CL4033034)
    Fold Change: 0.0470
    Cell Significance Index: 0.5800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0358
    Cell Significance Index: 2.0100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0146
    Cell Significance Index: 4.2000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0105
    Cell Significance Index: 0.1500
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.0085
    Cell Significance Index: 0.0700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0064
    Cell Significance Index: 1.2900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0055
    Cell Significance Index: 0.6400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0049
    Cell Significance Index: 0.1300
  • Cell Name: diffuse bipolar 2 cell (CL4033028)
    Fold Change: 0.0049
    Cell Significance Index: 0.0600
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.0044
    Cell Significance Index: 0.0500
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.0040
    Cell Significance Index: 0.0500
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: 0.0010
    Cell Significance Index: 0.0100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0008
    Cell Significance Index: -1.2500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0010
    Cell Significance Index: -1.9200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0010
    Cell Significance Index: -1.4000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0013
    Cell Significance Index: -0.9400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0029
    Cell Significance Index: -1.8500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0029
    Cell Significance Index: -1.5700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0032
    Cell Significance Index: -1.8000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0033
    Cell Significance Index: -2.4200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0040
    Cell Significance Index: -1.8100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0053
    Cell Significance Index: -0.2700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0057
    Cell Significance Index: -2.0600
  • Cell Name: diffuse bipolar 1 cell (CL4033027)
    Fold Change: -0.0057
    Cell Significance Index: -0.0700
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0066
    Cell Significance Index: -0.2700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0067
    Cell Significance Index: -1.4200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0103
    Cell Significance Index: -1.8600
  • Cell Name: diffuse bipolar 4 cell (CL4033031)
    Fold Change: -0.0123
    Cell Significance Index: -0.1500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0130
    Cell Significance Index: -2.5800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0131
    Cell Significance Index: -1.9100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0135
    Cell Significance Index: -0.7000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0146
    Cell Significance Index: -2.0100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0156
    Cell Significance Index: -1.7900
  • Cell Name: S cone cell (CL0003050)
    Fold Change: -0.0172
    Cell Significance Index: -0.2000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0199
    Cell Significance Index: -2.0300
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.0240
    Cell Significance Index: -0.3500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0267
    Cell Significance Index: -1.2100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0267
    Cell Significance Index: -1.1800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0277
    Cell Significance Index: -1.7900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0306
    Cell Significance Index: -2.4200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0309
    Cell Significance Index: -1.1700
  • Cell Name: H1 horizontal cell (CL0004217)
    Fold Change: -0.0314
    Cell Significance Index: -0.4000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0317
    Cell Significance Index: -1.4900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0334
    Cell Significance Index: -2.0500
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.0353
    Cell Significance Index: -0.6900
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.0353
    Cell Significance Index: -0.4400
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.0356
    Cell Significance Index: -0.5000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0363
    Cell Significance Index: -0.9700
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.0369
    Cell Significance Index: -0.3500
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.0379
    Cell Significance Index: -0.7000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0385
    Cell Significance Index: -1.1400
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.0428
    Cell Significance Index: -0.5400
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0448
    Cell Significance Index: -1.1200
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: -0.0458
    Cell Significance Index: -0.5800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0464
    Cell Significance Index: -1.2400
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.0464
    Cell Significance Index: -0.6000
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.0506
    Cell Significance Index: -0.5900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0509
    Cell Significance Index: -1.4600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0515
    Cell Significance Index: -1.4400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0518
    Cell Significance Index: -1.8000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0526
    Cell Significance Index: -1.3500
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0530
    Cell Significance Index: -0.8500
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.0549
    Cell Significance Index: -0.7100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0562
    Cell Significance Index: -1.9700
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: -0.0571
    Cell Significance Index: -0.6800
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: -0.0586
    Cell Significance Index: -0.6300
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.0587
    Cell Significance Index: -0.9500
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0589
    Cell Significance Index: -1.3600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0626
    Cell Significance Index: -2.0500
  • Cell Name: myelocyte (CL0002193)
    Fold Change: -0.0627
    Cell Significance Index: -0.6700
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: -0.0643
    Cell Significance Index: -0.8000
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.0657
    Cell Significance Index: -0.7200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0659
    Cell Significance Index: -2.1000
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.0664
    Cell Significance Index: -1.1400
  • Cell Name: diffuse bipolar 3b cell (CL4033030)
    Fold Change: -0.0697
    Cell Significance Index: -0.8400
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.0735
    Cell Significance Index: -0.9800
  • Cell Name: giant bipolar cell (CL4033035)
    Fold Change: -0.0752
    Cell Significance Index: -0.8800
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0764
    Cell Significance Index: -1.1600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** PDE6H is a member of the phosphodiesterase family, enzymes that catalyze the degradation of phosphodiester bonds in cyclic nucleotides, including cGMP and cyclic adenosine monophosphate (cAMP). The PDE6 enzyme is unique in that it is the only enzyme that specifically hydrolyzes cGMP in the photoreceptor outer segment membrane. The gamma subunit of PDE6H, encoded by this gene, is the most abundant subunit of the PDE6 enzyme and is essential for its activity. **Pathways and Functions:** PDE6H is involved in the following pathways: 1. **Visual Perception:** PDE6H plays a critical role in the visual transduction pathway, where it modulates the response of photoreceptor cells to light. The degradation of cGMP by PDE6H regulates the sensitivity of photoreceptors to light and is essential for normal visual function. 2. **G-Protein Coupled Receptor Signaling:** PDE6H interacts with G-proteins to regulate the activity of G-protein coupled receptors (GPCRs), which are involved in various cellular processes, including cell signaling and differentiation. 3. **MAPK Cascade:** PDE6H has been shown to regulate the activity of the mitogen-activated protein kinase (MAPK) cascade, a signaling pathway involved in cell proliferation, differentiation, and survival. **Clinical Significance:** Dysregulation of PDE6H has been implicated in various retinal diseases, including: 1. **Retinitis Pigmentosa:** A group of genetic disorders characterized by progressive vision loss and retinal degeneration. 2. **Age-related Macular Degeneration:** A leading cause of vision loss in older adults, characterized by the degeneration of the macula. 3. **Visual Impairment:** PDE6H mutations have been associated with visual impairment and blindness, highlighting the importance of this gene in maintaining normal visual function. In addition to its role in retinal disease, PDE6H has been found to be expressed in other cell types, including lymphocytes, endothelial cells, and stem cells, suggesting a broader functional scope. Further studies are needed to fully elucidate the mechanisms by which PDE6H regulates cellular processes and to explore its potential as a therapeutic target for various diseases. **Conclusion:** PDE6H is a critical gene that plays a pivotal role in visual perception and beyond. Its dysregulation has been implicated in various retinal diseases, and its expression in other cell types suggests a broader functional scope. Further research is needed to fully elucidate the mechanisms by which PDE6H regulates cellular processes and to explore its potential as a therapeutic target for various diseases.

Genular Protein ID: 2251148977

Symbol: CNCG_HUMAN

Name: Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma

UniProtKB Accession Codes:

Q13956 Q52LY7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 4 ChEMBL 2 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 DrugCentral 1 EC 2 EMBL 5 Ensembl 1 GO 8 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 RefSeq 2 Rhea 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8786098

Title: Isolation and chromosomal localization of the human cone cGMP phosphodiesterase gamma cDNA (PDE6H).

PubMed ID: 8786098

DOI: 10.1006/geno.1996.0085

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15629837

Title: A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy.

PubMed ID: 15629837

DOI: 10.1016/j.ophtha.2004.07.011

Sequence Information:

  • Length: 83
  • Mass: 9074
  • Checksum: 7A8944DC0550BA45
  • Sequence:
    • MSDNTTLPAP ASNQGPTTPR KGPPKFKQRQ TRQFKSKPPK KGVKGFGDDI PGMEGLGTDI 
TVICPWEAFS HLELHELAQF GII

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.