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PDE6H (phosphodiesterase 6H, cGMP-specific, cone, gamma)

Identity

Alias_namesphosphodiesterase 6H, cGMP-specific, cone, gamma
Other aliasACHM6
RCD3
HGNC (Hugo) PDE6H
LocusID (NCBI) 5149
Atlas_Id 71798
Location 12p12.3  [Link to chromosome band 12p12]
Location_base_pair Starts at 15125956 and ends at 15134799 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)PDE6H   8790
Cards
Entrez_Gene (NCBI)PDE6H  5149  phosphodiesterase 6H, cGMP-specific, cone, gamma
AliasesACHM6; RCD3
GeneCards (Weizmann)PDE6H
Ensembl hg19 (Hinxton)ENSG00000139053 [Gene_View]  chr12:15125956-15134799 [Contig_View]  PDE6H [Vega]
Ensembl hg38 (Hinxton)ENSG00000139053 [Gene_View]  chr12:15125956-15134799 [Contig_View]  PDE6H [Vega]
ICGC DataPortalENSG00000139053
TCGA cBioPortalPDE6H
AceView (NCBI)PDE6H
Genatlas (Paris)PDE6H
WikiGenes5149
SOURCE (Princeton)PDE6H
Genetics Home Reference (NIH)PDE6H
Genomic and cartography
GoldenPath hg19 (UCSC)PDE6H  -     chr12:15125956-15134799 +  12p12.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PDE6H  -     12p12.3   [Description]    (hg38-Dec_2013)
EnsemblPDE6H - 12p12.3 [CytoView hg19]  PDE6H - 12p12.3 [CytoView hg38]
Mapping of homologs : NCBIPDE6H [Mapview hg19]  PDE6H [Mapview hg38]
OMIM601190   610024   
Gene and transcription
Genbank (Entrez)BC069774 BC069800 BC093738 BC093740 BU729922
RefSeq transcript (Entrez)NM_006205
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_016859 NT_009714 NW_004929383
Consensus coding sequences : CCDS (NCBI)PDE6H
Cluster EST : UnigeneHs.54471 [ NCBI ]
CGAP (NCI)Hs.54471
Alternative Splicing GalleryENSG00000139053
Gene ExpressionPDE6H [ NCBI-GEO ]   PDE6H [ EBI - ARRAY_EXPRESS ]   PDE6H [ SEEK ]   PDE6H [ MEM ]
Gene Expression Viewer (FireBrowse)PDE6H [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5149
GTEX Portal (Tissue expression)PDE6H
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13956   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13956  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13956
Splice isoforms : SwissVarQ13956
PhosPhoSitePlusQ13956
Domains : Interpro (EBI)PDE6_gamma   
Domain families : Pfam (Sanger)PDE6_gamma (PF04868)   
Domain families : Pfam (NCBI)pfam04868   
Conserved Domain (NCBI)PDE6H
DMDM Disease mutations5149
Blocks (Seattle)PDE6H
SuperfamilyQ13956
Human Protein AtlasENSG00000139053
Peptide AtlasQ13956
HPRD03116
IPIIPI00016754   
Protein Interaction databases
DIP (DOE-UCLA)Q13956
IntAct (EBI)Q13956
FunCoupENSG00000139053
BioGRIDPDE6H
STRING (EMBL)PDE6H
ZODIACPDE6H
Ontologies - Pathways
QuickGOQ13956
Ontology : AmiGOactivation of MAPK activity  enzyme inhibitor activity  protein binding  visual perception  metabolic process  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  response to stimulus  
Ontology : EGO-EBIactivation of MAPK activity  enzyme inhibitor activity  protein binding  visual perception  metabolic process  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  response to stimulus  
Pathways : KEGGPurine metabolism   
NDEx NetworkPDE6H
Atlas of Cancer Signalling NetworkPDE6H
Wikipedia pathwaysPDE6H
Orthology - Evolution
OrthoDB5149
GeneTree (enSembl)ENSG00000139053
Phylogenetic Trees/Animal Genes : TreeFamPDE6H
HOVERGENQ13956
HOGENOMQ13956
Homologs : HomoloGenePDE6H
Homology/Alignments : Family Browser (UCSC)PDE6H
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDE6H [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDE6H
dbVarPDE6H
ClinVarPDE6H
1000_GenomesPDE6H 
Exome Variant ServerPDE6H
ExAC (Exome Aggregation Consortium)PDE6H (select the gene name)
Genetic variants : HAPMAP5149
Genomic Variants (DGV)PDE6H [DGVbeta]
DECIPHER (Syndromes)12:15125956-15134799  ENSG00000139053
CONAN: Copy Number AnalysisPDE6H 
Mutations
ICGC Data PortalPDE6H 
TCGA Data PortalPDE6H 
Broad Tumor PortalPDE6H
OASIS PortalPDE6H [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPDE6H  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPDE6H
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 PDE6H
DgiDB (Drug Gene Interaction Database)PDE6H
DoCM (Curated mutations)PDE6H (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PDE6H (select a term)
intoGenPDE6H
Cancer3DPDE6H(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601190    610024   
Orphanet10639   
MedgenPDE6H
Genetic Testing Registry PDE6H
NextProtQ13956 [Medical]
TSGene5149
GENETestsPDE6H
Huge Navigator PDE6H [HugePedia]
snp3D : Map Gene to Disease5149
BioCentury BCIQPDE6H
ClinGenPDE6H
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5149
Chemical/Pharm GKB GenePA33138
Clinical trialPDE6H
Miscellaneous
canSAR (ICR)PDE6H (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePDE6H
EVEXPDE6H
GoPubMedPDE6H
iHOPPDE6H
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:38:15 CET 2017

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