Human Gene PDE6G (uc002kay.3)
  Description: Homo sapiens phosphodiesterase 6G, cGMP-specific, rod, gamma (PDE6G), transcript variant 1, mRNA.
RefSeq Summary (NM_002602): 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].
Transcript (Including UTRs)
   Position: hg19 chr17:79,617,489-79,623,607 Size: 6,119 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr17:79,618,104-79,620,335 Size: 2,232 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:79,617,489-79,623,607)mRNA (may differ from genome)Protein (87 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CNRG_HUMAN
DESCRIPTION: RecName: Full=Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma; Short=GMP-PDE gamma; EC=3.1.4.35;
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.
CATALYTIC ACTIVITY: Guanosine 3',5'-cyclic phosphate + H(2)O = guanosine 5'-phosphate.
SUBUNIT: Oligomer composed of two catalytic chains (alpha and beta), an inhibitory chain (gamma) and the delta chain.
DISEASE: Defects in PDE6G are the cause of retinitis pigmentosa type 57 (RP57) [MIM:613582]. RP57 is 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.
SIMILARITY: Belongs to the rod/cone cGMP-PDE gamma subunit family.
SEQUENCE CAUTION: Sequence=CAD97656.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=EAW89666.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
WEB RESOURCE: Name=Mutations of the PDE6A/B/G genes; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/pdemut.htm";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PDE6G
Diseases sorted by gene-association score: retinitis pigmentosa 57* (1019), retinitis pigmentosa* (49), familial retinoblastoma (10), retinitis pigmentosa 17 (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.28 RPKM in Spleen
Total median expression: 16.59 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -55.40144-0.385 Picture PostScript Text
3' UTR -244.83615-0.398 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006952 - PDE6_gamma

Pfam Domains:
PF04868 - Retinal cGMP phosphodiesterase, gamma subunit

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3JWR - X-ray


ModBase Predicted Comparative 3D Structure on P18545
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004114 3',5'-cyclic-nucleotide phosphodiesterase activity
GO:0004857 enzyme inhibitor activity
GO:0005515 protein binding
GO:0016787 hydrolase activity
GO:0030507 spectrin binding
GO:0030553 cGMP binding
GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity

Biological Process:
GO:0000187 activation of MAPK activity
GO:0007601 visual perception
GO:0022400 regulation of rhodopsin mediated signaling pathway
GO:0043086 negative regulation of catalytic activity
GO:0045742 positive regulation of epidermal growth factor receptor signaling pathway
GO:0045745 positive regulation of G-protein coupled receptor protein signaling pathway
GO:0050896 response to stimulus

Cellular Component:
GO:0005886 plasma membrane
GO:0097381 photoreceptor disc membrane


-  Descriptions from all associated GenBank mRNAs
  BX647779 - Homo sapiens mRNA; cDNA DKFZp686C0587 (from clone DKFZp686C0587).
BX537414 - Homo sapiens mRNA; cDNA DKFZp686N1686 (from clone DKFZp686N1686); complete cds.
M36476 - Human cGMP phosphodiesterase gamma-subunit (PDEG) mRNA, complete cds.
JD524369 - Sequence 505393 from Patent EP1572962.
JD533244 - Sequence 514268 from Patent EP1572962.
JD310742 - Sequence 291766 from Patent EP1572962.
JD484203 - Sequence 465227 from Patent EP1572962.
JD534532 - Sequence 515556 from Patent EP1572962.
BC106884 - Homo sapiens phosphodiesterase 6G, cGMP-specific, rod, gamma, mRNA (cDNA clone MGC:125749 IMAGE:40029486), complete cds.
JD252555 - Sequence 233579 from Patent EP1572962.
JD147731 - Sequence 128755 from Patent EP1572962.
JD491911 - Sequence 472935 from Patent EP1572962.
JD036941 - Sequence 17965 from Patent EP1572962.
KJ891765 - Synthetic construct Homo sapiens clone ccsbBroadEn_01159 PDE6G gene, encodes complete protein.
AM393102 - Synthetic construct Homo sapiens clone IMAGE:100001995 for hypothetical protein (PDE6G gene).
AM393717 - Synthetic construct Homo sapiens clone IMAGE:100001954 for hypothetical protein (PDE6G gene).
AB590054 - Synthetic construct DNA, clone: pFN21AB8330, Homo sapiens PDE6G gene for phosphodiesterase 6G, cGMP-specific, rod, gamma, without stop codon, in Flexi system.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00230 - Purine metabolism
hsa04744 - Phototransduction

BioCarta from NCI Cancer Genome Anatomy Project
h_rhodopsinPathway - Visual Signal Transduction

Reactome (by CSHL, EBI, and GO)

Protein P18545 (Reactome details) participates in the following event(s):

R-HSA-74065 GNAT1-GTP binds PDE6 and activates it
R-HSA-2584246 GNAT1-GTP hydrolyses its bound GTP to GDP
R-HSA-4086393 G alpha t2 binds and activates PDE6
R-HSA-74059 PDE6 hydrolyses cGMP to GMP
R-HSA-4086392 PDE6 hydrolyses cGMP to GMP
R-HSA-2485179 Activation of the phototransduction cascade
R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade
R-HSA-4086398 Ca2+ pathway
R-HSA-2514856 The phototransduction cascade
R-HSA-3858494 Beta-catenin independent WNT signaling
R-HSA-2187338 Visual phototransduction
R-HSA-195721 Signaling by WNT
R-HSA-418594 G alpha (i) signalling events
R-HSA-162582 Signal Transduction
R-HSA-388396 GPCR downstream signalling
R-HSA-372790 Signaling by GPCR

-  Other Names for This Gene
  Alternate Gene Symbols: CNRG_HUMAN, NM_002602, NP_002593, P18545, PDEG, Q3KP63, Q7Z3U8
UCSC ID: uc002kay.3
RefSeq Accession: NM_002602
Protein: P18545 (aka CNRG_HUMAN)
CCDS: CCDS11783.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PDE6G:
rp-overview (Nonsyndromic Retinitis Pigmentosa Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002602.3
exon count: 4CDS single in 3' UTR: no RNA size: 1064
ORF size: 264CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 728.00frame shift in genome: no % Coverage: 96.15
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.