Details for: PDE6A

Gene ID: 5145

Symbol: PDE6A

Ensembl ID: ENSG00000132915

Description: phosphodiesterase 6A

Associated with

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: 20.1228
    Cell Significance Index: -3.1300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 12.3796
    Cell Significance Index: -3.1400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 11.6968
    Cell Significance Index: 737.2100
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: 11.3618
    Cell Significance Index: 14.7000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 2.5467
    Cell Significance Index: -3.1400
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 2.2145
    Cell Significance Index: 47.3400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 1.1273
    Cell Significance Index: -3.0200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.0738
    Cell Significance Index: -2.3500
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.6789
    Cell Significance Index: 5.9800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.4663
    Cell Significance Index: 12.5000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4290
    Cell Significance Index: 81.6500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.3789
    Cell Significance Index: 8.0700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3475
    Cell Significance Index: 34.3800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3475
    Cell Significance Index: 15.7500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.3269
    Cell Significance Index: 4.4600
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.2612
    Cell Significance Index: 3.2400
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.2543
    Cell Significance Index: 1.9600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2191
    Cell Significance Index: 197.8400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.1913
    Cell Significance Index: 2.2800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1893
    Cell Significance Index: 20.5900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1882
    Cell Significance Index: 3.2300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1832
    Cell Significance Index: 5.1200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1811
    Cell Significance Index: 10.8700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1798
    Cell Significance Index: 29.2500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.1764
    Cell Significance Index: 3.6600
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.1256
    Cell Significance Index: 1.8000
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.1238
    Cell Significance Index: 2.7100
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.1200
    Cell Significance Index: 1.0200
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.1114
    Cell Significance Index: 1.3500
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.0981
    Cell Significance Index: 0.8100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0841
    Cell Significance Index: 5.8200
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.0643
    Cell Significance Index: 0.9200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0629
    Cell Significance Index: 12.6100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0579
    Cell Significance Index: 3.0400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0538
    Cell Significance Index: 9.6900
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 0.0532
    Cell Significance Index: 0.2900
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.0481
    Cell Significance Index: 0.6000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0431
    Cell Significance Index: 2.2400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0418
    Cell Significance Index: 1.8500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0375
    Cell Significance Index: 7.4400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0367
    Cell Significance Index: 0.3800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0261
    Cell Significance Index: 0.9900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0191
    Cell Significance Index: 0.5500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0171
    Cell Significance Index: 0.3700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0138
    Cell Significance Index: 4.9400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0122
    Cell Significance Index: 0.4300
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.0119
    Cell Significance Index: 0.0700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0115
    Cell Significance Index: 7.9300
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.0084
    Cell Significance Index: 0.0700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0082
    Cell Significance Index: 0.9500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0056
    Cell Significance Index: 0.4300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0049
    Cell Significance Index: 0.2300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0041
    Cell Significance Index: 2.6000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0033
    Cell Significance Index: 1.4400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0017
    Cell Significance Index: 3.1100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0007
    Cell Significance Index: 1.3400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0004
    Cell Significance Index: 0.6700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0003
    Cell Significance Index: -0.4100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0006
    Cell Significance Index: -0.0800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0010
    Cell Significance Index: -0.1200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0014
    Cell Significance Index: -0.2100
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.0015
    Cell Significance Index: -0.0100
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: -0.0016
    Cell Significance Index: -0.0200
  • Cell Name: flat midget bipolar cell (CL4033033)
    Fold Change: -0.0024
    Cell Significance Index: -0.0300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0032
    Cell Significance Index: -1.7300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0037
    Cell Significance Index: -2.7400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0039
    Cell Significance Index: -2.9200
  • Cell Name: amacrine cell (CL0000561)
    Fold Change: -0.0040
    Cell Significance Index: -0.0500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0042
    Cell Significance Index: -1.8900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0042
    Cell Significance Index: -3.0700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0048
    Cell Significance Index: -2.7300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0049
    Cell Significance Index: -0.1300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0055
    Cell Significance Index: -3.4200
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0060
    Cell Significance Index: -0.0900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0073
    Cell Significance Index: -2.1000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0078
    Cell Significance Index: -1.3400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0080
    Cell Significance Index: -0.2000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0097
    Cell Significance Index: -0.6500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0099
    Cell Significance Index: -1.0100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0110
    Cell Significance Index: -0.8200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0115
    Cell Significance Index: -1.4900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0133
    Cell Significance Index: -0.1900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0139
    Cell Significance Index: -1.5900
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.0147
    Cell Significance Index: -0.1900
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0148
    Cell Significance Index: -0.2500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0148
    Cell Significance Index: -3.1200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0149
    Cell Significance Index: -2.0500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0152
    Cell Significance Index: -0.9300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0209
    Cell Significance Index: -0.6700
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: -0.0230
    Cell Significance Index: -0.2600
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.0252
    Cell Significance Index: -0.3300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0275
    Cell Significance Index: -1.6900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0290
    Cell Significance Index: -3.0200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0295
    Cell Significance Index: -3.4800
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0325
    Cell Significance Index: -0.4800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0339
    Cell Significance Index: -2.4000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0382
    Cell Significance Index: -1.0400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.0388
    Cell Significance Index: -0.3600
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: -0.0410
    Cell Significance Index: -0.4700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0437
    Cell Significance Index: -2.4500

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:** 1. **Phosphodiesterase activity:** PDE6A is a phosphodiesterase enzyme that hydrolyzes cyclic nucleotides (cAMP and cGMP), which are key second messengers in cellular signaling pathways. 2. **Phototransduction cascade:** PDE6A is integral to the phototransduction cascade, where light triggers a series of molecular events that ultimately lead to the generation of an electrical signal. 3. **Cellular localization:** PDE6A is primarily expressed in photoreceptor cells of the retina, as well as in other cell types such as cardiac muscle myoblasts and intestinal crypt stem cells. 4. **Signaling pathways:** PDE6A is involved in various signaling pathways, including the Ca2+ pathway, camp-mediated signaling, and Wnt signaling. **Pathways and Functions:** PDE6A plays a central role in the phototransduction cascade, where it regulates the levels of cAMP and cGMP. The enzyme's activity is crucial for the conversion of light into electrical signals, which are transmitted to the brain via the optic nerve. Beyond its role in vision, PDE6A has been implicated in various cellular processes, including: 1. **Visual perception:** PDE6A is essential for the normal functioning of photoreceptor cells, which convert light into electrical signals that are transmitted to the brain. 2. **Cell signaling:** PDE6A regulates the levels of cAMP and cGMP, which are key second messengers in cellular signaling pathways. 3. **Cell development and differentiation:** PDE6A has been implicated in the development and differentiation of photoreceptor cells, as well as other cell types such as cardiac muscle myoblasts and intestinal crypt stem cells. 4. **Inflammation and immune response:** PDE6A has been shown to regulate the levels of cAMP and cGMP, which are involved in the regulation of inflammatory responses and immune cell function. **Clinical Significance:** Dysregulation of PDE6A has been implicated in various ocular and systemic disorders, including: 1. **Retinitis pigmentosa:** A group of inherited eye disorders characterized by progressive vision loss, often associated with mutations in the PDE6A gene. 2. **Leber congenital amaurosis:** A rare inherited eye disorder characterized by severe visual impairment, often associated with mutations in the PDE6A gene. 3. **Cardiac arrhythmias:** Abnormalities in PDE6A expression have been linked to an increased risk of cardiac arrhythmias, such as atrial fibrillation. 4. **Immune system disorders:** PDE6A has been implicated in the regulation of immune cell function, and dysregulation of the enzyme has been linked to various immune system disorders, including autoimmune diseases and cancer. In conclusion, the PDE6A gene plays a critical role in visual perception and beyond, regulating the phototransduction cascade and influencing various cellular processes. Understanding the molecular mechanisms of PDE6A has important implications for the diagnosis and treatment of ocular and systemic disorders, as well as the development of novel therapeutic strategies for visual and immune system disorders.

Genular Protein ID: 3021193614

Symbol: PDE6A_HUMAN

Name: PDE V-B1

UniProtKB Accession Codes:

P16499 Q0P638

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 10 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 DrugCentral 1 EC 1 EMBL 3 Ensembl 1 ExpressionAtlas 1 GO 9 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 3 RefSeq 1 Rhea 2 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 2155175

Title: Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene.

PubMed ID: 2155175

DOI: 10.1016/0888-7543(90)90567-e

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: 20940301

Title: Rod phosphodiesterase-6 PDE6A and PDE6B subunits are enzymatically equivalent.

PubMed ID: 20940301

DOI: 10.1074/jbc.m110.170068

PubMed ID: 7493036

Title: Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.

PubMed ID: 7493036

DOI: 10.1038/ng1295-468

PubMed ID: 10393062

Title: Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.

PubMed ID: 10393062

Sequence Information:

  • Length: 860
  • Mass: 99547
  • Checksum: 7EEA48A234C1FE59
  • Sequence:
    • MGEVTAEEVE KFLDSNIGFA KQYYNLHYRA KLISDLLGAK EAAVDFSNYH SPSSMEESEI 
IFDLLRDFQE NLQTEKCIFN VMKKLCFLLQ ADRMSLFMYR TRNGIAELAT RLFNVHKDAV 
LEDCLVMPDQ EIVFPLDMGI VGHVAHSKKI ANVPNTEEDE HFCDFVDILT EYKTKNILAS 
PIMNGKDVVA IIMAVNKVDG SHFTKRDEEI LLKYLNFANL IMKVYHLSYL HNCETRRGQI 
LLWSGSKVFE ELTDIERQFH KALYTVRAFL NCDRYSVGLL DMTKQKEFFD VWPVLMGEVP 
PYSGPRTPDG REINFYKVID YILHGKEDIK VIPNPPPDHW ALVSGLPAYV AQNGLICNIM 
NAPAEDFFAF QKEPLDESGW MIKNVLSMPI VNKKEEIVGV ATFYNRKDGK PFDEMDETLM 
ESLTQFLGWS VLNPDTYESM NKLENRKDIF QDIVKYHVKC DNEEIQKILK TREVYGKEPW 
ECEEEELAEI LQAELPDADK YEINKFHFSD LPLTELELVK CGIQMYYELK VVDKFHIPQE 
ALVRFMYSLS KGYRKITYHN WRHGFNVGQT MFSLLVTGKL KRYFTDLEAL AMVTAAFCHD 
IDHRGTNNLY QMKSQNPLAK LHGSSILERH HLEFGKTLLR DESLNIFQNL NRRQHEHAIH 
MMDIAIIATD LALYFKKRTM FQKIVDQSKT YESEQEWTQY MMLEQTRKEI VMAMMMTACD 
LSAITKPWEV QSQVALLVAA EFWEQGDLER TVLQQNPIPM MDRNKADELP KLQVGFIDFV 
CTFVYKEFSR FHEEITPMLD GITNNRKEWK ALADEYDAKM KVQEEKKQKQ QSAKSAAAGN 
QPGGNPSPGG ATTSKSCCIQ

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.