Details for: PDE6C

Gene ID: 5146

Symbol: PDE6C

Ensembl ID: ENSG00000095464

Description: phosphodiesterase 6C

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: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 21.7628
    Cell Significance Index: -5.5200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 3.3746
    Cell Significance Index: 206.9000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.6495
    Cell Significance Index: -3.6100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.2719
    Cell Significance Index: 57.6500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.9847
    Cell Significance Index: 681.0800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.9699
    Cell Significance Index: 31.0700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.9210
    Cell Significance Index: 175.2700
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.9196
    Cell Significance Index: 22.2800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7172
    Cell Significance Index: 70.9500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5634
    Cell Significance Index: 508.6800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3532
    Cell Significance Index: 57.4500
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.3296
    Cell Significance Index: 1.7300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3106
    Cell Significance Index: 33.7800
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.3047
    Cell Significance Index: 4.2800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2730
    Cell Significance Index: 5.8200
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.2420
    Cell Significance Index: 6.0400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.1693
    Cell Significance Index: 2.4300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.1409
    Cell Significance Index: 2.0800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1299
    Cell Significance Index: 8.9800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1199
    Cell Significance Index: 7.2000
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.0924
    Cell Significance Index: 1.2100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0741
    Cell Significance Index: 14.8700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0708
    Cell Significance Index: 1.8200
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.0705
    Cell Significance Index: 2.2300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0361
    Cell Significance Index: 1.0400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0318
    Cell Significance Index: 6.3200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0265
    Cell Significance Index: 1.6300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0207
    Cell Significance Index: 0.4300
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.0176
    Cell Significance Index: 0.2200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0115
    Cell Significance Index: 4.1100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0077
    Cell Significance Index: 0.2700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0036
    Cell Significance Index: 5.5400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0022
    Cell Significance Index: 4.0000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0020
    Cell Significance Index: 2.7100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0012
    Cell Significance Index: 2.2100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0047
    Cell Significance Index: -0.0800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0082
    Cell Significance Index: -1.1900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0085
    Cell Significance Index: -5.3900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0105
    Cell Significance Index: -7.8100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0112
    Cell Significance Index: -6.1300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0116
    Cell Significance Index: -5.2700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0123
    Cell Significance Index: -6.9400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0152
    Cell Significance Index: -0.3800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0158
    Cell Significance Index: -0.7000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0223
    Cell Significance Index: -6.4300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0256
    Cell Significance Index: -0.9700
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: -0.0304
    Cell Significance Index: -0.2700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0317
    Cell Significance Index: -5.7100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0328
    Cell Significance Index: -0.7100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0339
    Cell Significance Index: -7.1400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0372
    Cell Significance Index: -6.3500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0390
    Cell Significance Index: -3.0000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0416
    Cell Significance Index: -1.9400
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0435
    Cell Significance Index: -0.6500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0454
    Cell Significance Index: -6.2400
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0476
    Cell Significance Index: -1.1900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0548
    Cell Significance Index: -3.4500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0550
    Cell Significance Index: -6.7600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0613
    Cell Significance Index: -6.3900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0623
    Cell Significance Index: -4.1900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0630
    Cell Significance Index: -1.2300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0632
    Cell Significance Index: -1.7200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.0662
    Cell Significance Index: -1.4200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0674
    Cell Significance Index: -1.8800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0683
    Cell Significance Index: -7.8300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0684
    Cell Significance Index: -7.9700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0797
    Cell Significance Index: -4.4700
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.0899
    Cell Significance Index: -0.9300
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0959
    Cell Significance Index: -2.3400
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.0982
    Cell Significance Index: -1.3100
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.1005
    Cell Significance Index: -1.6000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.1049
    Cell Significance Index: -1.2500
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: -0.1212
    Cell Significance Index: -1.1600
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.1272
    Cell Significance Index: -1.8100
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: -0.1378
    Cell Significance Index: -0.8500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1400
    Cell Significance Index: -4.4600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1433
    Cell Significance Index: -2.1600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1442
    Cell Significance Index: -5.0500
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1491
    Cell Significance Index: -1.7400
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: -0.1497
    Cell Significance Index: -1.5800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1515
    Cell Significance Index: -4.9600
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.1543
    Cell Significance Index: -2.6600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1556
    Cell Significance Index: -8.1700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1569
    Cell Significance Index: -7.3800
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.1600
    Cell Significance Index: -2.4300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1649
    Cell Significance Index: -3.5000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1693
    Cell Significance Index: -4.5200
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: -0.1723
    Cell Significance Index: -2.7800
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1730
    Cell Significance Index: -1.6400
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: -0.1737
    Cell Significance Index: -2.0100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1826
    Cell Significance Index: -4.3800
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.1919
    Cell Significance Index: -1.6600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1941
    Cell Significance Index: -4.2500
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1942
    Cell Significance Index: -4.8500
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.1942
    Cell Significance Index: -2.6200
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1987
    Cell Significance Index: -3.9900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2058
    Cell Significance Index: -2.1300
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2143
    Cell Significance Index: -4.6300
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: -0.2185
    Cell Significance Index: -2.2600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2265
    Cell Significance Index: -3.0900

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. **Subunit of the phototransduction complex:** PDE6C is a subunit of the phototransduction complex, specifically the cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha. 2. **3',5'-cyclic-GMP phosphodiesterase activity:** PDE6C exhibits 3',5'-cyclic-GMP phosphodiesterase activity, which is essential for the regulation of phototransduction in response to light. 3. **Expressed in various cell types:** PDE6C is expressed in blood vessel endothelial cells, colon goblet cells, intestinal crypt stem cells, and other cell types, suggesting a broader functional scope. **Pathways and Functions:** 1. **Phototransduction pathway:** PDE6C plays a critical role in the phototransduction pathway, regulating the conversion of cyclic GMP to cyclic AMP in response to light. 2. **Cyclic GMP signaling:** PDE6C is involved in the regulation of cyclic GMP signaling, which is essential for various cellular processes, including cell differentiation, proliferation, and survival. 3. **Cell proliferation and differentiation:** PDE6C has been implicated in the regulation of cell proliferation and differentiation in various tissues, including the intestinal epithelium and the central nervous system. 4. **Neurotransmission:** PDE6C has been found to be expressed in GABAergic interneurons, suggesting a potential role in neurotransmission. **Clinical Significance:** 1. **Visual disorders:** Mutations in the PDE6C gene have been associated with visual disorders, including photoreceptor degeneration and visual impairment. 2. **Neurological disorders:** The expression of PDE6C in GABAergic interneurons suggests a potential role in neurological disorders, including epilepsy and neurodevelopmental disorders. 3. **Cancer:** PDE6C has been found to be overexpressed in various types of cancer, including colorectal cancer, suggesting a potential role in tumor development and progression. 4. **Therapeutic potential:** The identification of PDE6C as a critical component in phototransduction and other cellular processes has opened up new avenues for therapeutic intervention in visual and neurological disorders. In conclusion, the PDE6C gene is a complex and multifunctional gene that plays a critical role in phototransduction and beyond. Further research is needed to fully elucidate the functional scope of PDE6C and its potential therapeutic applications.

Genular Protein ID: 1370806288

Symbol: PDE6C_HUMAN

Name: Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'

UniProtKB Accession Codes:

P51160 A6NCR6 Q5VY29

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 14 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 DrugCentral 1 EC 1 EMBL 21 Ensembl 1 EvolutionaryTrace 1 GO 9 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 4 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 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 Pumba 1 RNAct 1 RefSeq 1 Rhea 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8543163

Title: Isolation and characterization of a cDNA encoding the alpha' subunit of human cone cGMP-phosphodiesterase.

PubMed ID: 8543163

DOI: 10.1016/0378-1119(95)00585-4

PubMed ID: 7490077

Title: Gene structure and amino acid sequence of the human cone photoreceptor cGMP-phosphodiesterase alpha' subunit (PDEA2) and its chromosomal localization to 10q24.

PubMed ID: 7490077

DOI: 10.1006/geno.1995.1171

PubMed ID: 8641425

Title: Human cone-specific cGMP phosphodiesterase alpha' subunit: complete cDNA sequence and gene arrangement.

PubMed ID: 8641425

DOI: 10.1016/0014-5793(96)00104-4

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 21127010

Title: Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.

PubMed ID: 21127010

DOI: 10.1093/hmg/ddq517

PubMed ID: 28583373

Title: Mechanisms of mutant PDE6 proteins underlying retinal diseases.

PubMed ID: 28583373

DOI: 10.1016/j.cellsig.2017.06.002

PubMed ID: 10393054

Title: Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations.

PubMed ID: 10393054

PubMed ID: 19615668

Title: Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

PubMed ID: 19615668

DOI: 10.1016/j.ajhg.2009.06.016

PubMed ID: 21248752

Title: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.

PubMed ID: 21248752

DOI: 10.1038/nature09639

Sequence Information:

  • Length: 858
  • Mass: 99147
  • Checksum: 06FFD025EE5936A5
  • Sequence:
    • MGEINQVAVE KYLEENPQFA KEYFDRKLRV EVLGEIFKNS QVPVQSSMSF SELTQVEESA 
LCLELLWTVQ EEGGTPEQGV HRALQRLAHL LQADRCSMFL CRSRNGIPEV ASRLLDVTPT 
SKFEDNLVGP DKEVVFPLDI GIVGWAAHTK KTHNVPDVKK NSHFSDFMDK QTGYVTKNLL 
ATPIVVGKEV LAVIMAVNKV NASEFSKQDE EVFSKYLNFV SIILRLHHTS YMYNIESRRS 
QILMWSANKV FEELTDVERQ FHKALYTVRS YLNCERYSIG LLDMTKEKEF YDEWPIKLGE 
VEPYKGPKTP DGREVNFYKI IDYILHGKEE IKVIPTPPAD HWTLISGLPT YVAENGFICN 
MMNAPADEYF TFQKGPVDET GWVIKNVLSL PIVNKKEDIV GVATFYNRKD GKPFDEHDEY 
ITETLTQFLG WSLLNTDTYD KMNKLENRKD IAQEMLMNQT KATPEEIKSI LKFQEKLNVD 
VIDDCEEKQL VAILKEDLPD PRSAELYEFR FSDFPLTEHG LIKCGIRLFF EINVVEKFKV 
PVEVLTRWMY TVRKGYRAVT YHNWRHGFNV GQTMFTLLMT GRLKKYYTDL EAFAMLAAAF 
CHDIDHRGTN NLYQMKSTSP LARLHGSSIL ERHHLEYSKT LLQDESLNIF QNLNKRQFET 
VIHLFEVAII ATDLALYFKK RTMFQKIVDA CEQMQTEEEA IKYVTVDPTK KEIIMAMMMT 
ACDLSAITKP WEVQSQVALM VANEFWEQGD LERTVLQQQP IPMMDRNKRD ELPKLQVGFI 
DFVCTFVYKE FSRFHKEITP MLSGLQNNRV EWKSLADEYD AKMKVIEEEA KKQEGGAEKA 
AEDSGGGDDK KSKTCLML

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.