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PDE6G (phosphodiesterase 6G)

Identity

Alias_namesPDEG
phosphodiesterase 6G
Alias_symbol (synonym)RP57
HGNC (Hugo) PDE6G
LocusID (NCBI) 5148
Atlas_Id 49914
Location 17q25.3  [Link to chromosome band 17q25]
Location_base_pair Starts at 79617489 and ends at 79623607 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
NPLOC4 (17q25.3) / PDE6G (17q25.3)

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
AliasesPDEG; RP57
GeneCards (Weizmann)PDE6G
Ensembl hg19 (Hinxton)ENSG00000185527 [Gene_View]  chr17:79617489-79623607 [Contig_View]  PDE6G [Vega]
Ensembl hg38 (Hinxton)ENSG00000185527 [Gene_View]  chr17:79617489-79623607 [Contig_View]  PDE6G [Vega]
ICGC DataPortalENSG00000185527
TCGA cBioPortalPDE6G
AceView (NCBI)PDE6G
Genatlas (Paris)PDE6G
WikiGenes5148
SOURCE (Princeton)PDE6G
Genetics Home Reference (NIH)PDE6G
Genomic and cartography
GoldenPath hg19 (UCSC)PDE6G  -     chr17:79617489-79623607 -  17q25.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PDE6G  -     17q25.3   [Description]    (hg38-Dec_2013)
EnsemblPDE6G - 17q25.3 [CytoView hg19]  PDE6G - 17q25.3 [CytoView hg38]
Mapping of homologs : NCBIPDE6G [Mapview hg19]  PDE6G [Mapview hg38]
OMIM180073   268000   613582   
Gene and transcription
Genbank (Entrez)AM393102 AM393717 BC106884 BQ638010 BQ639132
RefSeq transcript (Entrez)NM_002602
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_009834 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)PDE6G
Cluster EST : UnigeneHs.654482 [ NCBI ]
CGAP (NCI)Hs.654482
Alternative Splicing GalleryENSG00000185527
Gene ExpressionPDE6G [ NCBI-GEO ]   PDE6G [ EBI - ARRAY_EXPRESS ]   PDE6G [ SEEK ]   PDE6G [ MEM ]
Gene Expression Viewer (FireBrowse)PDE6G [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5148
GTEX Portal (Tissue expression)PDE6G
Protein : pattern, domain, 3D structure
UniProt/SwissProtP18545   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP18545  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP18545
Splice isoforms : SwissVarP18545
PhosPhoSitePlusP18545
Domains : Interpro (EBI)PDE6_gamma   
Domain families : Pfam (Sanger)PDE6_gamma (PF04868)   
Domain families : Pfam (NCBI)pfam04868   
Conserved Domain (NCBI)PDE6G
DMDM Disease mutations5148
Blocks (Seattle)PDE6G
PDB (SRS)3JWR   
PDB (PDBSum)3JWR   
PDB (IMB)3JWR   
PDB (RSDB)3JWR   
Structural Biology KnowledgeBase3JWR   
SCOP (Structural Classification of Proteins)3JWR   
CATH (Classification of proteins structures)3JWR   
SuperfamilyP18545
Human Protein AtlasENSG00000185527
Peptide AtlasP18545
HPRD08914
IPIIPI00000119   
Protein Interaction databases
DIP (DOE-UCLA)P18545
IntAct (EBI)P18545
FunCoupENSG00000185527
BioGRIDPDE6G
STRING (EMBL)PDE6G
ZODIACPDE6G
Ontologies - Pathways
QuickGOP18545
Ontology : AmiGOactivation of MAPK activity  enzyme inhibitor activity  protein binding  plasma membrane  Wnt signaling pathway, calcium modulating pathway  visual perception  metabolic process  rhodopsin mediated signaling pathway  regulation of rhodopsin mediated signaling pathway  spectrin binding  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  Wnt signaling pathway, calcium modulating pathway  visual perception  metabolic process  rhodopsin mediated signaling pathway  regulation of rhodopsin mediated signaling pathway  spectrin binding  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   
NDEx NetworkPDE6G
Atlas of Cancer Signalling NetworkPDE6G
Wikipedia pathwaysPDE6G
Orthology - Evolution
OrthoDB5148
GeneTree (enSembl)ENSG00000185527
Phylogenetic Trees/Animal Genes : TreeFamPDE6G
HOVERGENP18545
HOGENOMP18545
Homologs : HomoloGenePDE6G
Homology/Alignments : Family Browser (UCSC)PDE6G
Gene fusions - Rearrangements
Fusion : MitelmanNPLOC4/PDE6G [17q25.3/17q25.3]  [t(17;17)(q25;q25)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDE6G [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDE6G
dbVarPDE6G
ClinVarPDE6G
1000_GenomesPDE6G 
Exome Variant ServerPDE6G
ExAC (Exome Aggregation Consortium)PDE6G (select the gene name)
Genetic variants : HAPMAP5148
Genomic Variants (DGV)PDE6G [DGVbeta]
DECIPHER (Syndromes)17:79617489-79623607  ENSG00000185527
CONAN: Copy Number AnalysisPDE6G 
Mutations
ICGC Data PortalPDE6G 
TCGA Data PortalPDE6G 
Broad Tumor PortalPDE6G
OASIS PortalPDE6G [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPDE6G  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPDE6G
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
BioMutasearch PDE6G
DgiDB (Drug Gene Interaction Database)PDE6G
DoCM (Curated mutations)PDE6G (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PDE6G (select a term)
intoGenPDE6G
Cancer3DPDE6G(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM180073    268000    613582   
Orphanet659   
MedgenPDE6G
Genetic Testing Registry PDE6G
NextProtP18545 [Medical]
TSGene5148
GENETestsPDE6G
Huge Navigator PDE6G [HugePedia]
snp3D : Map Gene to Disease5148
BioCentury BCIQPDE6G
ClinGenPDE6G
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5148
Chemical/Pharm GKB GenePA33137
Clinical trialPDE6G
Miscellaneous
canSAR (ICR)PDE6G (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePDE6G
EVEXPDE6G
GoPubMedPDE6G
iHOPPDE6G
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:47:07 CET 2016

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