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PDE6G (phosphodiesterase 6G, cGMP-specific, rod, gamma)

Identity

Other namesPDEG
RP57
HGNC (Hugo) PDE6G
LocusID (NCBI) 5148
Location 17q25.3
Location_base_pair Starts at 79617489 and ends at 79623607 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)PDE6G   8789
Cards
Entrez_Gene (NCBI)PDE6G  5148  phosphodiesterase 6G, cGMP-specific, rod, gamma
GeneCards (Weizmann)PDE6G
Ensembl (Hinxton)ENSG00000185527 [Gene_View]  chr17:79617489-79623607 [Contig_View]  PDE6G [Vega]
ICGC DataPortalENSG00000185527
AceView (NCBI)PDE6G
Genatlas (Paris)PDE6G
WikiGenes5148
SOURCE (Princeton)NM_002602
Genomic and cartography
GoldenPath (UCSC)PDE6G  -  17q25.3   chr17:79617489-79623607 -  17q25.3   [Description]    (hg19-Feb_2009)
EnsemblPDE6G - 17q25.3 [CytoView]
Mapping of homologs : NCBIPDE6G [Mapview]
OMIM180073   268000   613582   
Gene and transcription
Genbank (Entrez)AM393102 AM393717 BC106884 BQ638010 BQ639132
RefSeq transcript (Entrez)NM_002602
RefSeq genomic (Entrez)AC_000149 NC_000017 NC_018928 NG_009834 NT_010783 NW_001838458 NW_004929407
Consensus coding sequences : CCDS (NCBI)PDE6G
Cluster EST : UnigeneHs.654482 [ NCBI ]
CGAP (NCI)Hs.654482
Alternative Splicing : Fast-db (Paris)GSHG0013819
Alternative Splicing GalleryENSG00000185527
Gene ExpressionPDE6G [ NCBI-GEO ]     PDE6G [ SEEK ]   PDE6G [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP18545 (Uniprot)
NextProtP18545  [Medical]
With graphics : InterProP18545
Splice isoforms : SwissVarP18545 (Swissvar)
Domains : Interpro (EBI)PDE6_gamma   
Related proteins : CluSTrP18545
Domain families : Pfam (Sanger)PDE6_gamma (PF04868)   
Domain families : Pfam (NCBI)pfam04868   
DMDM Disease mutations5148
Blocks (Seattle)P18545
PDB (SRS)3JWR   
PDB (PDBSum)3JWR   
PDB (IMB)3JWR   
PDB (RSDB)3JWR   
Human Protein AtlasENSG00000185527
Peptide AtlasP18545
HPRD08914
IPIIPI00000119   
Protein Interaction databases
DIP (DOE-UCLA)P18545
IntAct (EBI)P18545
FunCoupENSG00000185527
BioGRIDPDE6G
InParanoidP18545
Interologous Interaction database P18545
IntegromeDBPDE6G
STRING (EMBL)PDE6G
Ontologies - Pathways
Ontology : AmiGOactivation of MAPK activity  enzyme inhibitor activity  protein binding  plasma membrane  visual perception  phototransduction, visible light  metabolic process  rhodopsin mediated signaling pathway  regulation of rhodopsin mediated signaling pathway  cGMP binding  negative regulation of catalytic activity  positive regulation of epidermal growth factor receptor signaling pathway  positive regulation of G-protein coupled receptor protein signaling pathway  3',5'-cyclic-GMP phosphodiesterase activity  photoreceptor disc membrane  
Ontology : EGO-EBIactivation of MAPK activity  enzyme inhibitor activity  protein binding  plasma membrane  visual perception  phototransduction, visible light  metabolic process  rhodopsin mediated signaling pathway  regulation of rhodopsin mediated signaling pathway  cGMP binding  negative regulation of catalytic activity  positive regulation of epidermal growth factor receptor signaling pathway  positive regulation of G-protein coupled receptor protein signaling pathway  3',5'-cyclic-GMP phosphodiesterase activity  photoreceptor disc membrane  
Pathways : BIOCARTAVisual Signal Transduction [Genes]   
Pathways : KEGGPurine metabolism    Phototransduction   
Protein Interaction DatabasePDE6G
Wikipedia pathwaysPDE6G
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PDE6G
SNP (GeneSNP Utah)PDE6G
SNP : HGBasePDE6G
Genetic variants : HAPMAPPDE6G
1000_GenomesPDE6G 
ICGC programENSG00000185527 
CONAN: Copy Number AnalysisPDE6G 
Somatic Mutations in Cancer : COSMICPDE6G 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
Mutations and Diseases : HGMDPDE6G
OMIM180073    268000    613582   
MedgenPDE6G
GENETestsPDE6G
Disease Genetic AssociationPDE6G
Huge Navigator PDE6G [HugePedia]  PDE6G [HugeCancerGEM]
Genomic VariantsPDE6G  PDE6G [DGVbeta]
Exome VariantPDE6G
dbVarPDE6G
ClinVarPDE6G
snp3D : Map Gene to Disease5148
General knowledge
Homologs : HomoloGenePDE6G
Homology/Alignments : Family Browser (UCSC)PDE6G
Phylogenetic Trees/Animal Genes : TreeFamPDE6G
Chemical/Protein Interactions : CTD5148
Chemical/Pharm GKB GenePA33137
Clinical trialPDE6G
Cancer Resource (Charite)ENSG00000185527
Other databases
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
CoreMinePDE6G
iHOPPDE6G
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 13 13:07:22 CEST 2014

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