Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PDE6G Gene

Aliases for PDE6G Gene

  • Phosphodiesterase 6G 2 3 5
  • Phosphodiesterase 6G, CGMP-Specific, Rod, Gamma 2 3
  • GMP-PDE Gamma 3 4
  • PDEG 3 4
  • Retinal Rod Rhodopsin-Sensitive CGMP 3,5-Cyclic Phosphodiesterase Subunit Gamma 3
  • Rod CG-PDE G 3
  • EC 3.1.4.17 61
  • EC 3.1.4.35 4
  • RP57 3

External Ids for PDE6G Gene

Previous HGNC Symbols for PDE6G Gene

  • PDEG

Previous GeneCards Identifiers for PDE6G Gene

  • GC17U990070
  • GC17M080177
  • GC17M080313
  • GC17M077227
  • GC17M079617
  • GC17M075063

Summaries for PDE6G Gene

Entrez Gene Summary for PDE6G Gene

  • This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction signaling cascade. It is also expressed in a variety of other tissues, and has been shown to regulate the c-Src protein kinase and G-protein-coupled receptor kinase 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]

GeneCards Summary for PDE6G Gene

PDE6G (Phosphodiesterase 6G) is a Protein Coding gene. Diseases associated with PDE6G include Retinitis Pigmentosa 57 and Pde6g-Related Retinitis Pigmentosa. Among its related pathways are Phototransduction and Signaling by GPCR. GO annotations related to this gene include enzyme inhibitor activity and 3,5-cyclic-nucleotide phosphodiesterase activity. An important paralog of this gene is PDE6H.

UniProtKB/Swiss-Prot for PDE6G Gene

  • Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones.

Tocris Summary for PDE6G Gene

  • Phosphodiesterases (PDEs) are a family of phosphohydrolyases that catalyze the hydrolysis of 3' cyclic phosphate bonds in adenosine and/or guanine 3',5' cyclic monophosphate (cAMP and/or cGMP). PDEs regulate the second messengers by controlling their degradation.

Gene Wiki entry for PDE6G Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDE6G Gene

Genomics for PDE6G Gene

Regulatory Elements for PDE6G Gene

Enhancers for PDE6G Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around PDE6G on UCSC Golden Path with GeneCards custom track

Genomic Location for PDE6G Gene

Chromosome:
17
Start:
81,650,459 bp from pter
End:
81,663,112 bp from pter
Size:
12,654 bases
Orientation:
Minus strand

Genomic View for PDE6G Gene

Genes around PDE6G on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDE6G Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDE6G Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDE6G Gene

Proteins for PDE6G Gene

  • Protein details for PDE6G Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P18545-CNRG_HUMAN
    Recommended name:
    Retinal rod rhodopsin-sensitive cGMP 3,5-cyclic phosphodiesterase subunit gamma
    Protein Accession:
    P18545
    Secondary Accessions:
    • Q3KP63
    • Q7Z3U8

    Protein attributes for PDE6G Gene

    Size:
    87 amino acids
    Molecular mass:
    9643 Da
    Quaternary structure:
    • Oligomer composed of two catalytic chains (alpha and beta), an inhibitory chain (gamma) and the delta chain.
    SequenceCaution:
    • Sequence=CAD97656.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=EAW89666.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PDE6G Gene

neXtProt entry for PDE6G Gene

Selected DME Specific Peptides for PDE6G Gene

Post-translational modifications for PDE6G Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PDE6G Gene

Domains & Families for PDE6G Gene

Gene Families for PDE6G Gene

Protein Domains for PDE6G Gene

Suggested Antigen Peptide Sequences for PDE6G Gene

Graphical View of Domain Structure for InterPro Entry

P18545

UniProtKB/Swiss-Prot:

CNRG_HUMAN :
  • Belongs to the rod/cone cGMP-PDE gamma subunit family.
Family:
  • Belongs to the rod/cone cGMP-PDE gamma subunit family.
genes like me logo Genes that share domains with PDE6G: view

Function for PDE6G Gene

Molecular function for PDE6G Gene

GENATLAS Biochemistry:
cGMP specific nucleotide phosphodiesterase,class VI,gamma subunit,rod photoreceptor
UniProtKB/Swiss-Prot CatalyticActivity:
Guanosine 3,5-cyclic phosphate + H(2)O = guanosine 5-phosphate.
UniProtKB/Swiss-Prot Function:
Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones.

Enzyme Numbers (IUBMB) for PDE6G Gene

Gene Ontology (GO) - Molecular Function for PDE6G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004857 enzyme inhibitor activity TAS 7828894
GO:0005515 protein binding IEA,IPI 16357825
GO:0030507 spectrin binding IEA --
GO:0030553 cGMP binding IEA --
GO:0047555 3,5-cyclic-GMP phosphodiesterase activity IEA --
genes like me logo Genes that share ontologies with PDE6G: view
genes like me logo Genes that share phenotypes with PDE6G: view

Human Phenotype Ontology for PDE6G Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PDE6G Gene

MGI Knock Outs for PDE6G:

Animal Model Products

CRISPR Products

miRNA for PDE6G Gene

miRTarBase miRNAs that target PDE6G

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for PDE6G Gene

Localization for PDE6G Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PDE6G Gene COMPARTMENTS Subcellular localization image for PDE6G gene
Compartment Confidence
plasma membrane 4
cytosol 2
mitochondrion 2
nucleus 1

Gene Ontology (GO) - Cellular Components for PDE6G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0097381 photoreceptor disc membrane TAS --
genes like me logo Genes that share ontologies with PDE6G: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PDE6G Gene

Pathways & Interactions for PDE6G Gene

genes like me logo Genes that share pathways with PDE6G: view

Gene Ontology (GO) - Biological Process for PDE6G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity IEA --
GO:0007223 Wnt signaling pathway, calcium modulating pathway TAS --
GO:0007601 visual perception IEA --
GO:0016056 rhodopsin mediated signaling pathway TAS --
GO:0022400 regulation of rhodopsin mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with PDE6G: view

No data available for SIGNOR curated interactions for PDE6G Gene

Drugs & Compounds for PDE6G Gene

(12) Drugs for PDE6G Gene - From: DrugBank, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vardenafil Approved Pharma Target, allosteric modulator PDE5 inhibitor 0
Sildenafil Approved, Investigational Pharma Inhibition, Inhibitor, Target, inhibitor PDE5 inhibitor, selective 0
Water Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
3-isobutyl-1-methyl-7H-xanthine Experimental Pharma Target 0

(1) Additional Compounds for PDE6G Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
IBMX
Antagonist 28822-58-4

(5) Tocris Compounds for PDE6G Gene

Compound Action Cas Number
(R)-(-)-Rolipram PDE4 inhibitor. More active enantiomer of rolipram (Cat. No. 0905) 85416-75-7
IBMX PDE inhibitor (non-selective) 28822-58-4
MDL 12330A hydrochloride Adenylyl cyclase inhibitor; also cyclic nucleotide PDE inhibitor 40297-09-4
Rolipram PDE4 inhibitor 61413-54-5
Sildenafil citrate Orally active, potent PDE5 inhibitor 171599-83-0
genes like me logo Genes that share compounds with PDE6G: view

Transcripts for PDE6G Gene

Unigene Clusters for PDE6G Gene

Phosphodiesterase 6G, cGMP-specific, rod, gamma:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDE6G Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b
SP1:
SP2: -

Relevant External Links for PDE6G Gene

GeneLoc Exon Structure for
PDE6G
ECgene alternative splicing isoforms for
PDE6G

Expression for PDE6G Gene

mRNA expression in normal human tissues for PDE6G Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PDE6G Gene

This gene is overexpressed in Spleen (x12.1) and Whole Blood (x10.3).

Protein differential expression in normal tissues from HIPED for PDE6G Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PDE6G Gene



Protein tissue co-expression partners for PDE6G Gene

NURSA nuclear receptor signaling pathways regulating expression of PDE6G Gene:

PDE6G

SOURCE GeneReport for Unigene cluster for PDE6G Gene:

Hs.654482
genes like me logo Genes that share expression patterns with PDE6G: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for PDE6G Gene

Orthologs for PDE6G Gene

This gene was present in the common ancestor of chordates.

Orthologs for PDE6G Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PDE6G 34
  • 91.57 (n)
  • 97.7 (a)
PDE6G 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDE6G 34
  • 91.57 (n)
  • 97.7 (a)
PDE6G 35
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pde6g 34
  • 89.66 (n)
  • 96.55 (a)
Pde6g 16
Pde6g 35
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pde6g 34
  • 88.89 (n)
  • 96.55 (a)
oppossum
(Monodelphis domestica)
Mammalia PDE6G 35
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDE6G 35
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDE6G 34
  • 82.76 (n)
  • 90.8 (a)
PDE6G 35
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDE6G 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pde6g 34
  • 82.76 (n)
  • 94.25 (a)
zebrafish
(Danio rerio)
Actinopterygii pde6g 34
pde6g 34
  • 80.08 (n)
  • 93.1 (a)
pde6g 35
  • 93 (a)
OneToOne
Species where no ortholog for PDE6G was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PDE6G Gene

ENSEMBL:
Gene Tree for PDE6G (if available)
TreeFam:
Gene Tree for PDE6G (if available)

Paralogs for PDE6G Gene

Paralogs for PDE6G Gene

(1) SIMAP similar genes for PDE6G Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PDE6G: view

Variants for PDE6G Gene

Sequence variations from dbSNP and Humsavar for PDE6G Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_009294 -
rs3432 -- 81,650,504(-) CAGCC(C/T)GCCCT nc-transcript-variant, utr-variant-3-prime
rs8477 -- 81,651,029(-) CCACT(A/G)TGCTC nc-transcript-variant, utr-variant-3-prime
rs8908 -- 81,650,841(-) GGAGA(C/T)ACAGG nc-transcript-variant, utr-variant-3-prime
rs13372 -- 81,650,675(-) CCCAG(C/T)CCCCT nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for PDE6G Gene

Variant ID Type Subtype PubMed ID
esv26223 CNV gain+loss 19812545
esv2716457 CNV deletion 23290073
nsv1134683 CNV deletion 24896259
nsv428351 CNV gain 18775914
nsv470620 CNV loss 18288195
nsv828128 CNV loss 20364138
nsv952390 CNV deletion 24416366

Variation tolerance for PDE6G Gene

Residual Variation Intolerance Score: 74.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.71; 66.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PDE6G Gene

Human Gene Mutation Database (HGMD)
PDE6G
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDE6G

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDE6G Gene

Disorders for PDE6G Gene

MalaCards: The human disease database

(6) MalaCards diseases for PDE6G Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 57
  • rp57
pde6g-related retinitis pigmentosa
  • retinitis pigmentosa 57
retinitis pigmentosa
  • retinitis pigmentosa 1
familial retinoblastoma
  • retinoblastoma
macular dystrophy, dominant cystoid
  • cystoid macular edema
- elite association - COSMIC cancer census association via MalaCards
Search PDE6G in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CNRG_HUMAN
  • Retinitis pigmentosa 57 (RP57) [MIM:613582]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:20655036}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PDE6G

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDE6G
genes like me logo Genes that share disorders with PDE6G: view

No data available for Genatlas for PDE6G Gene

Publications for PDE6G Gene

  1. Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa. (PMID: 8125719) Hahn L.B. … Dryja T.P. (Invest. Ophthalmol. Vis. Sci. 1994) 3 4 22 65
  2. Isolation and characterization of cDNA encoding the gamma-subunit of cGMP phosphodiesterase in human retina. (PMID: 2161380) Tuteja N. … Farber D.B. (Gene 1990) 3 4 22 65
  3. Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase. (PMID: 20655036) Dvir L. … Ben-Yosef T. (Am. J. Hum. Genet. 2010) 3 4 65
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65
  5. The organization of the gamma-subunit gene of human photoreceptor cyclic GMP phosphodiesterase. (PMID: 1965799) Piriyev N.I. … Lipkin V.M. (Dokl. Akad. Nauk SSSR 1990) 3 4 65

Products for PDE6G Gene

Sources for PDE6G Gene

Content
Loading form....