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 56
  • 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 Retinitis Pigmentosa. Among its related pathways are Phototransduction and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (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

Additional gene information for PDE6G Gene

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

Genomics for PDE6G Gene

GeneHancer (GH) Regulatory Elements for PDE6G Gene

Promoters and enhancers for PDE6G Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I081652 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 550.4 +9.8 9786 1.3 TFAP4 ZNF511 SP5 ARID4B KAT8 GLIS2 GLIS1 SMAD4 PDE6G TSPAN10 NPLOC4
GH17I081662 Enhancer 0.8 ENCODE 577.2 -0.5 -524 2.2 HDGF PKNOX1 ATF1 POLR2B EGR1 ATF7 KLF13 PAF1 SMARCA5 ZBTB11 PDE6G CCDC137 TSPAN10 ARL16 NPLOC4 OXLD1
GH17I081656 Promoter 0.7 EPDnew 550.4 +6.6 6550 0.1 ZNF341 ZIC2 PDE6G NPLOC4
GH17I081661 Enhancer 0.4 ENCODE 567.7 +1.1 1089 0.3 SCRT1 SCRT2 PDE6G CCDC137 NPLOC4
GH17I081682 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 13.3 -21.0 -21042 3.5 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 SLC30A9 POLR2B ZNF213 ARL16 HGS ALYREF FOXK2 LOC105371942 CCDC137 PDE6G NPLOC4 TSPAN10 P4HB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PDE6G on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PDE6G gene promoter:

Genomic Locations for PDE6G Gene

Genomic Locations for PDE6G Gene
chr17:81,650,459-81,663,112
(GRCh38/hg38)
Size:
12,654 bases
Orientation:
Minus strand
chr17:79,617,489-79,630,142
(GRCh37/hg19)

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

P18545:
  • TPRKGPPKFKQRQTRQFKSKPPKKGV
  • HLELHELAQ
  • GFGDDIPGMEGLGTDITVICPWEAF

Post-translational modifications for PDE6G Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PDE6G Gene

Gene Families for PDE6G Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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

Phenotypes From GWAS Catalog 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 IEA --
GO:0004857 enzyme inhibitor activity TAS 7828894
GO:0005515 protein binding IPI 16357825
GO:0016787 hydrolase activity IEA --
GO:0030507 spectrin binding 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

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

Localization for PDE6G Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDE6G gene
Compartment Confidence
plasma membrane 4
mitochondrion 2
cytosol 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 and Subcellular locations from the Human Protein Atlas (HPA) 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 TAS,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 and HMDB

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, Investigational 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
Eggmanone Potent and selective PDE4 inhibitor; suppresses hedgehog signaling 505068-32-6
Etazolate hydrochloride PDE4 inhibitor 35838-58-5
IBMX PDE inhibitor (non-selective) 28822-58-4
MY-5445 PDE5 inhibitor 78351-75-4
Ro 20-1724 PDE4 inhibitor 29925-17-5
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

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for PDE6G Gene

  • Eye(5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PDE6G Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
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
oppossum
(Monodelphis domestica)
Mammalia PDE6G 34
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDE6G 34
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PDE6G 33 34
  • 91.57 (n)
dog
(Canis familiaris)
Mammalia PDE6G 33 34
  • 91.57 (n)
mouse
(Mus musculus)
Mammalia Pde6g 33 16 34
  • 89.66 (n)
rat
(Rattus norvegicus)
Mammalia Pde6g 33
  • 88.89 (n)
chicken
(Gallus gallus)
Aves PDE6G 33 34
  • 82.76 (n)
lizard
(Anolis carolinensis)
Reptilia PDE6G 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pde6g 33
  • 82.76 (n)
zebrafish
(Danio rerio)
Actinopterygii pde6g 33 33 34
  • 80.08 (n)
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 Variation AA Info Type
rs1126818 likely-benign, Retinitis Pigmentosa, Recessive 81,650,800(-) G/A 3_prime_UTR_variant, non_coding_transcript_variant
rs1126835 likely-benign, Retinitis Pigmentosa, Recessive 81,650,590(-) A/C 3_prime_UTR_variant, non_coding_transcript_variant
rs114250932 likely-benign, Retinitis Pigmentosa, Recessive 81,650,548(-) G/A 3_prime_UTR_variant, non_coding_transcript_variant
rs13372 likely-benign, Retinitis Pigmentosa, Recessive 81,650,675(-) G/A 3_prime_UTR_variant, non_coding_transcript_variant
rs200236628 uncertain-significance, not specified, Retinitis Pigmentosa, Recessive 81,651,070(-) C/G/T 3_prime_UTR_variant, non_coding_transcript_variant

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)

Additional Variant Information for PDE6G Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PDE6G Gene

MalaCards: The human disease database

(4) MalaCards diseases for PDE6G Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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.

Additional Disease Information for 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 LB … Dryja TP (Investigative ophthalmology & visual science 1994) 3 4 22 58
  2. Isolation and characterization of cDNA encoding the gamma-subunit of cGMP phosphodiesterase in human retina. (PMID: 2161380) Tuteja N … Farber DB (Gene 1990) 3 4 22 58
  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 (American journal of human genetics 2010) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. [The organization of the gamma-subunit gene of human photoreceptor cyclic GMP phosphodiesterase]. (PMID: 1965799) Piriev NI … Lipkin VM (Doklady Akademii nauk SSSR 1990) 3 4 58

Products for PDE6G Gene

Sources for PDE6G Gene

Content
Loading form....