Details for: PDE6D

Gene ID: 5147

Symbol: PDE6D

Ensembl ID: ENSG00000156973

Description: phosphodiesterase 6D

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: 138.7378
    Cell Significance Index: -21.5800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 78.1412
    Cell Significance Index: -19.8200
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 44.2276
    Cell Significance Index: -22.7500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 18.2813
    Cell Significance Index: -22.5400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.9768
    Cell Significance Index: -18.6900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.8210
    Cell Significance Index: -22.9700
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 5.5772
    Cell Significance Index: -17.1300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.9111
    Cell Significance Index: 120.4500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.0922
    Cell Significance Index: 108.0500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9489
    Cell Significance Index: 856.7400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6714
    Cell Significance Index: 73.0300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.6434
    Cell Significance Index: 7.6700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6175
    Cell Significance Index: 122.5400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.6081
    Cell Significance Index: 121.9800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6027
    Cell Significance Index: 36.1800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6013
    Cell Significance Index: 97.7900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.5753
    Cell Significance Index: 67.8500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.5531
    Cell Significance Index: 16.2500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.5097
    Cell Significance Index: 352.5400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3280
    Cell Significance Index: 117.6700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3040
    Cell Significance Index: 21.0200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2838
    Cell Significance Index: 7.6100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2738
    Cell Significance Index: 16.8300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.2539
    Cell Significance Index: 13.3300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2367
    Cell Significance Index: 13.2800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.2352
    Cell Significance Index: 5.1500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2265
    Cell Significance Index: 17.3900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1854
    Cell Significance Index: 35.2900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1764
    Cell Significance Index: 4.9300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1702
    Cell Significance Index: 30.6800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1648
    Cell Significance Index: 10.6300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1265
    Cell Significance Index: 69.1000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1150
    Cell Significance Index: 50.8400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1145
    Cell Significance Index: 2.4800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1138
    Cell Significance Index: 5.9100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1064
    Cell Significance Index: 13.0800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0902
    Cell Significance Index: 4.0900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0869
    Cell Significance Index: 11.9300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0524
    Cell Significance Index: 1.5100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0503
    Cell Significance Index: 3.3800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0500
    Cell Significance Index: 2.2100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0434
    Cell Significance Index: 5.5600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0394
    Cell Significance Index: 17.8900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0358
    Cell Significance Index: 0.7500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0110
    Cell Significance Index: 20.8000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0088
    Cell Significance Index: 16.2100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0053
    Cell Significance Index: 0.0900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0052
    Cell Significance Index: 7.9400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0028
    Cell Significance Index: 0.1100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0027
    Cell Significance Index: 1.7000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0026
    Cell Significance Index: 0.0700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0001
    Cell Significance Index: -0.1900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0226
    Cell Significance Index: -16.6000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0230
    Cell Significance Index: -17.0100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0241
    Cell Significance Index: -18.2300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0334
    Cell Significance Index: -0.8000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0349
    Cell Significance Index: -19.7000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0406
    Cell Significance Index: -25.3600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0427
    Cell Significance Index: -1.9900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0468
    Cell Significance Index: -4.7800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0510
    Cell Significance Index: -6.5900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0521
    Cell Significance Index: -3.6900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0606
    Cell Significance Index: -10.3500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0688
    Cell Significance Index: -19.8000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0757
    Cell Significance Index: -3.5600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0771
    Cell Significance Index: -1.2900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0869
    Cell Significance Index: -12.6300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0992
    Cell Significance Index: -11.5600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0993
    Cell Significance Index: -3.1800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1023
    Cell Significance Index: -2.6300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1188
    Cell Significance Index: -2.5300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1192
    Cell Significance Index: -4.1900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1206
    Cell Significance Index: -25.4100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1357
    Cell Significance Index: -10.1100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1358
    Cell Significance Index: -3.8800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1374
    Cell Significance Index: -15.7400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1399
    Cell Significance Index: -4.8600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1476
    Cell Significance Index: -3.8800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1509
    Cell Significance Index: -3.2300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1788
    Cell Significance Index: -3.4900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1990
    Cell Significance Index: -20.7200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2253
    Cell Significance Index: -5.7600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2443
    Cell Significance Index: -6.6500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2510
    Cell Significance Index: -6.7200
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.2615
    Cell Significance Index: -1.5800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2662
    Cell Significance Index: -21.0800
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.2726
    Cell Significance Index: -2.2900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2785
    Cell Significance Index: -3.8000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3112
    Cell Significance Index: -8.9200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3285
    Cell Significance Index: -20.1400
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.3928
    Cell Significance Index: -5.0300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3986
    Cell Significance Index: -8.4600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.4096
    Cell Significance Index: -10.2400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4292
    Cell Significance Index: -13.6700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4371
    Cell Significance Index: -14.3100
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.4693
    Cell Significance Index: -6.7500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.4853
    Cell Significance Index: -14.3000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.4853
    Cell Significance Index: -6.9500
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.4932
    Cell Significance Index: -10.6600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4933
    Cell Significance Index: -17.2800

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:** The PDE6D gene is a member of the phosphodiesterase family, which is involved in the breakdown of cyclic nucleotides, including cGMP. The PDE6D subunit is specifically expressed in photoreceptor cells of the retina, where it plays a critical role in the phototransduction pathway. The PDE6D subunit is unique in that it is sensitive to rhodopsin, a light-sensitive protein that triggers the phototransduction cascade. The PDE6D subunit is also involved in the regulation of ciliary function, with implications for the maintenance of cilia structure and function in various cell types. **Pathways and Functions:** The PDE6D gene is involved in several critical signaling pathways, including: 1. **Phototransduction pathway**: PDE6D plays a critical role in the phototransduction pathway, where it regulates the levels of cGMP, a secondary messenger molecule that is generated in response to light. 2. **Ciliary function**: PDE6D is involved in the regulation of ciliary structure and function, with implications for the maintenance of cilia in various cell types, including photoreceptor cells and sensory neurons. 3. **MAPK signaling pathway**: PDE6D is also involved in the MAPK signaling pathway, which is a key regulator of cellular responses to various stimuli, including light and stress. **Clinical Significance:** Mutations in the PDE6D gene have been associated with various forms of retinal degeneration, including: 1. **Leber congenital amaurosis**: A severe form of inherited retinal degeneration that is characterized by early-onset blindness. 2. **Retinitis pigmentosa**: A group of inherited disorders that affect the retina and are characterized by progressive vision loss. 3. **Optic neuropathy**: A condition that affects the optic nerve and is characterized by progressive vision loss. In conclusion, the PDE6D gene plays a critical role in the regulation of ciliary function and visual perception, and mutations in this gene can lead to various forms of retinal degeneration. Further research is needed to fully understand the mechanisms by which PDE6D regulates ciliary function and visual perception, and to develop effective therapeutic strategies for the treatment of retinal degeneration disorders.

Genular Protein ID: 1427898053

Symbol: PDE6D_HUMAN

Name: Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta

UniProtKB Accession Codes:

O43924 O43250

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 DIP 1 DNASU 1 DisGeNET 1 DrugCentral 1 EMBL 8 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 9 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 35 PDBsum 35 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9570951

Title: Characterization of human and mouse rod cGMP phosphodiesterase delta subunit (PDE6D) and chromosomal localization of the human gene.

PubMed ID: 9570951

DOI: 10.1006/geno.1998.5210

PubMed ID: 9533031

Title: cDNA sequence, genomic organization and mapping of PDE6D, the human gene encoding the delta subunit of the cGMP phosphodiesterase of retinal rod cells to chromosome 2q36.

PubMed ID: 9533031

DOI: 10.1159/000134701

PubMed ID: 9781033

Title: Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse.

PubMed ID: 9781033

DOI: 10.1038/sj.ejhg.5200215

PubMed ID: 9712853

Title: The rod cGMP phosphodiesterase delta subunit dissociates the small GTPase Rab13 from membranes.

PubMed ID: 9712853

DOI: 10.1074/jbc.273.35.22340

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: 10518933

Title: The delta subunit of rod specific cyclic GMP phosphodiesterase, PDE delta, interacts with the Arf-like protein Arl3 in a GTP specific manner.

PubMed ID: 10518933

DOI: 10.1016/s0014-5793(99)01117-5

PubMed ID: 9990021

Title: The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase.

PubMed ID: 9990021

DOI: 10.1073/pnas.96.4.1315

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24166846

Title: A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.

PubMed ID: 24166846

DOI: 10.1002/humu.22470

PubMed ID: 11980706

Title: The complex of Arl2-GTP and PDE delta: from structure to function.

PubMed ID: 11980706

DOI: 10.1093/emboj/21.9.2095

PubMed ID: 22002721

Title: Arl2-GTP and Arl3-GTP regulate a GDI-like transport system for farnesylated cargo.

PubMed ID: 22002721

DOI: 10.1038/nchembio.686

PubMed ID: 23559067

Title: The interplay between RPGR, PDE? and Arl2/3 regulate the ciliary targeting of farnesylated cargo.

PubMed ID: 23559067

DOI: 10.1038/embor.2013.37

PubMed ID: 23698361

Title: Small molecule inhibition of the KRAS-PDE? interaction impairs oncogenic KRAS signalling.

PubMed ID: 23698361

DOI: 10.1038/nature12205

Sequence Information:

  • Length: 150
  • Mass: 17420
  • Checksum: AB8D9309C33B4411
  • Sequence:
    • MSAKDERARE ILRGFKLNWM NLRDAETGKI LWQGTEDLSV PGVEHEARVP KKILKCKAVS 
RELNFSSTEQ MEKFRLEQKV YFKGQCLEEW FFEFGFVIPN STNTWQSLIE AAPESQMMPA 
SVLTGNVIIE TKFFDDDLLV STSRVRLFYV

Genular Protein ID: 3434816855

Symbol: B8ZZK5_HUMAN

Name: N/A

UniProtKB Accession Codes:

B8ZZK5

Database IDs:

ARBA 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 2 Gene3D 1 GeneTree 1 HGNC 1 InterPro 3 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 2 Proteomes 2 ProteomicsDB 2 RefSeq 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

Sequence Information:

  • Length: 93
  • Mass: 10759
  • Checksum: 635256691999D13D
  • Sequence:
    • MSAKDERARE ILRGFKLNWM NLRDAETGKI LWQGTEDLSV PGVEHEARVP KKILKCKAVS 
RELNFSSTEQ MEKFRLEQKV YFKGQCLEVG TLS

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.