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Aliases for PDE6G Gene

Aliases for PDE6G Gene

  • Phosphodiesterase 6G, CGMP-Specific, Rod, Gamma 2 3
  • PDEG 3 4 6
  • GMP-PDE Gamma 3 4
  • RP57 3 6
  • Retinal Rod Rhodopsin-Sensitive CGMP 3,5-Cyclic Phosphodiesterase Subunit Gamma 3
  • Rod CG-PDE G 3
  • EC 3.1.4.17 64
  • EC 3.1.4.35 4

External Ids for PDE6G Gene

Previous Symbols for PDE6G Gene

  • PDEG

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, CGMP-Specific, Rod, Gamma) is a Protein Coding gene. Diseases associated with PDE6G include retinitis pigmentosa 57 and pde6g-related retinitis pigmentosa. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include enzyme inhibitor activity and 3,5-cyclic-GMP 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 related phosphohydrolyases that selectively catalyze the hydrolysis of 3 cyclic phosphate bonds in adenosine and/or guanine 3,5 cyclic monophosphate (cAMP and/or cGMP). They regulate the cellular levels, localization and duration of action of these second messengers by controlling the rate of their degradation. There are 11 subtypes of PDEs, named PDE1-11; PDE4, 7 and 8 selectively degrade cAMP, PDE5, 6 and 9 selectively degrade cGMP and PDE1, 2, 3, 10 and 11 degrade both cyclic nucleotides. PDEs are expressed ubiquitously, with each subtype having a specific tissue distribution. These enzymes are involved in many signal transduction pathways and their functions include vascular smooth muscle proliferation and contraction, cardiac contractility, platelet aggregation, hormone secretion, immune cell activation, and they are involved in learning and memory.

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

Genomic Location for PDE6G Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PDE6G Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDE6G Gene

Regulatory Elements 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

Proteomics data for PDE6G Gene at MOPED

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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for PDE6G Gene

Gene Families for PDE6G Gene

HGNC:
  • PDE :Phosphodiesterases
IUPHAR :

Protein Domains for PDE6G Gene

UniProtKB/Swiss-Prot:

CNRG_HUMAN
Family:
  • Belongs to the rod/cone cGMP-PDE gamma subunit family.:
    • P18545
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:0004114 3,5-cyclic-nucleotide phosphodiesterase activity --
GO:0004857 enzyme inhibitor activity TAS 7828894
GO:0005515 protein binding IPI 16357825
GO:0030507 spectrin binding IEA --
GO:0030553 cGMP binding IEA --
genes like me logo Genes that share ontologies with PDE6G: view

Phenotypes for PDE6G Gene

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

Animal Models for PDE6G Gene

MGI Knock Outs for PDE6G:

miRNA for PDE6G Gene

miRTarBase miRNAs that target PDE6G

No data available for Transcription Factor Targeting 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
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

Pathways for PDE6G Gene

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

Pathways by source for PDE6G Gene

1 Qiagen pathway for PDE6G Gene
1 BioSystems pathway for PDE6G Gene

Gene Ontology (GO) - Biological Process for PDE6G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity IEA --
GO:0007601 visual perception IEA --
GO:0007603 phototransduction, visible light TAS --
GO:0008152 metabolic process IEA --
GO:0016056 rhodopsin mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with PDE6G: view

Compounds for PDE6G Gene

(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]
Cilostamide PDE3 inhibitor [68550-75-4]
IBMX PDE inhibitor (non-selective) [28822-58-4]
Rolipram PDE4 inhibitor [61413-54-5]
Sildenafil citrate Orally active, potent PDE5 inhibitor [171599-83-0]

(5) HMDB Compounds for PDE6G Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Cyclic AMP
  • Cyclic AMP
60-92-4
Cyclic GMP
  • 3',5'-cyclic GMP
7665-99-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Water
  • Dihydrogen oxide
7732-18-5

(3) Drugbank Compounds for PDE6G Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
3-ISOBUTYL-1-METHYLXANTHINE
target
Sildenafil
139755-83-2 target inhibitor
Vardenafil
224785-90-4 target allosteric modulator
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:

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 (12.1) and Whole Blood (10.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PDE6G Gene

SOURCE GeneReport for Unigene cluster for PDE6G Gene Hs.654482

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

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 36
  • 91.57 (n)
  • 97.7 (a)
PDE6G 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDE6G 36
  • 91.57 (n)
  • 97.7 (a)
PDE6G 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pde6g 36
  • 89.66 (n)
  • 96.55 (a)
Pde6g 16
Pde6g 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PDE6G 37
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDE6G 37
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pde6g 36
  • 88.89 (n)
  • 96.55 (a)
chicken
(Gallus gallus)
Aves PDE6G 36
  • 82.76 (n)
  • 90.8 (a)
PDE6G 37
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDE6G 37
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pde6g 36
  • 82.76 (n)
  • 94.25 (a)
zebrafish
(Danio rerio)
Actinopterygii pde6g 36
pde6g 36
  • 80.08 (n)
  • 93.1 (a)
pde6g 37
  • 93 (a)
OneToOne
Species with no ortholog for PDE6G:
  • 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

Selected 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 MAF
rs3432 -- 81,650,504(-) CAGCC(C/T)GCCCT utr-variant-3-prime, nc-transcript-variant
rs8477 -- 81,651,029(-) CCACT(A/G)TGCTC utr-variant-3-prime, nc-transcript-variant
rs8908 -- 81,650,841(-) GGAGA(C/T)ACAGG utr-variant-3-prime, nc-transcript-variant
rs13372 -- 81,650,675(-) CCCAG(C/T)CCCCT utr-variant-3-prime, nc-transcript-variant
rs1126818 -- 81,650,800(-) TTGGT(C/T)GGTCT utr-variant-3-prime, nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
esv26223 CNV Gain+Loss 19812545
nsv828128 CNV Loss 20364138
nsv909052 CNV Loss 21882294
nsv428351 CNV Gain 18775914
dgv3330n71 CNV Loss 21882294
dgv3332n71 CNV Loss 21882294
nsv470620 CNV Loss 18288195
nsv909109 CNV Loss 21882294
nsv909111 CNV Loss 21882294
dgv3333n71 CNV Loss 21882294
esv2716457 CNV Deletion 23290073

Relevant External Links for PDE6G Gene

HapMap Linkage Disequilibrium report
PDE6G
Human Gene Mutation Database (HGMD)
PDE6G

Disorders for PDE6G Gene

(1) OMIM Diseases for PDE6G Gene (180073)

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.

(2) University of Copenhagen DISEASES for PDE6G Gene

(2) Novoseek inferred disease relationships for PDE6G Gene

Disease -log(P) Hits PubMed IDs
retinitis pigmentosa 79.3 1
retinal degeneration 72.5 2
genes like me logo Genes that share disorders with PDE6G: view

Publications for PDE6G Gene

  1. 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 23
  2. 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 23
  3. 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
  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
  5. 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

Products for PDE6G Gene

Sources for PDE6G Gene

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