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PDE6A (phosphodiesterase 6A)

Identity

Alias_namesPDEA
phosphodiesterase 6A, cGMP-specific, rod, alpha
Alias_symbol (synonym)RP43
Other aliasCGPR-A
HGNC (Hugo) PDE6A
LocusID (NCBI) 5145
Atlas_Id 71794
Location 5q32  [Link to chromosome band 5q32]
Location_base_pair Starts at 149857956 and ends at 149944793 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CEP120 (5q23.2) / PDE6A (5q32)PDE6A (5q32) / PDE6A (5q32)

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)PDE6A   8785
Cards
Entrez_Gene (NCBI)PDE6A  5145  phosphodiesterase 6A
AliasesCGPR-A; PDEA; RP43
GeneCards (Weizmann)PDE6A
Ensembl hg19 (Hinxton)ENSG00000132915 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132915 [Gene_View]  chr5:149857956-149944793 [Contig_View]  PDE6A [Vega]
ICGC DataPortalENSG00000132915
TCGA cBioPortalPDE6A
AceView (NCBI)PDE6A
Genatlas (Paris)PDE6A
WikiGenes5145
SOURCE (Princeton)PDE6A
Genetics Home Reference (NIH)PDE6A
Genomic and cartography
GoldenPath hg38 (UCSC)PDE6A  -     chr5:149857956-149944793 -  5q32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PDE6A  -     5q32   [Description]    (hg19-Feb_2009)
EnsemblPDE6A - 5q32 [CytoView hg19]  PDE6A - 5q32 [CytoView hg38]
Mapping of homologs : NCBIPDE6A [Mapview hg19]  PDE6A [Mapview hg38]
OMIM180071   613810   
Gene and transcription
Genbank (Entrez)AB593141 BC035909 BC144044 BU734142 BX537592
RefSeq transcript (Entrez)NM_000440
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PDE6A
Cluster EST : UnigeneHs.567314 [ NCBI ]
CGAP (NCI)Hs.567314
Alternative Splicing GalleryENSG00000132915
Gene ExpressionPDE6A [ NCBI-GEO ]   PDE6A [ EBI - ARRAY_EXPRESS ]   PDE6A [ SEEK ]   PDE6A [ MEM ]
Gene Expression Viewer (FireBrowse)PDE6A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5145
GTEX Portal (Tissue expression)PDE6A
Human Protein AtlasENSG00000132915-PDE6A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP16499   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP16499  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP16499
Splice isoforms : SwissVarP16499
Catalytic activity : Enzyme3.1.4.35 [ Enzyme-Expasy ]   3.1.4.353.1.4.35 [ IntEnz-EBI ]   3.1.4.35 [ BRENDA ]   3.1.4.35 [ KEGG ]   
PhosPhoSitePlusP16499
Domaine pattern : Prosite (Expaxy)PDEASE_I (PS00126)   
Domains : Interpro (EBI)GAF    GAF_dom-like    HD/PDEase_dom    PDE6A    PDEase    PDEase_catalytic_dom    PDEase_CS   
Domain families : Pfam (Sanger)GAF (PF01590)    PDEase_I (PF00233)   
Domain families : Pfam (NCBI)pfam01590    pfam00233   
Domain families : Smart (EMBL)GAF (SM00065)  HDc (SM00471)  
Conserved Domain (NCBI)PDE6A
DMDM Disease mutations5145
Blocks (Seattle)PDE6A
SuperfamilyP16499
Human Protein Atlas [tissue]ENSG00000132915-PDE6A [tissue]
Peptide AtlasP16499
HPRD01570
IPIIPI00218730   
Protein Interaction databases
DIP (DOE-UCLA)P16499
IntAct (EBI)P16499
FunCoupENSG00000132915
BioGRIDPDE6A
STRING (EMBL)PDE6A
ZODIACPDE6A
Ontologies - Pathways
QuickGOP16499
Ontology : AmiGOplasma membrane  Wnt signaling pathway, calcium modulating pathway  visual perception  rhodopsin mediated signaling pathway  regulation of rhodopsin mediated signaling pathway  GMP metabolic process  metal ion binding  3',5'-cyclic-GMP phosphodiesterase activity  regulation of cytosolic calcium ion concentration  photoreceptor disc membrane  
Ontology : EGO-EBIplasma membrane  Wnt signaling pathway, calcium modulating pathway  visual perception  rhodopsin mediated signaling pathway  regulation of rhodopsin mediated signaling pathway  GMP metabolic process  metal ion binding  3',5'-cyclic-GMP phosphodiesterase activity  regulation of cytosolic calcium ion concentration  photoreceptor disc membrane  
Pathways : BIOCARTAVisual Signal Transduction [Genes]   
Pathways : KEGGPurine metabolism    Phototransduction   
NDEx NetworkPDE6A
Atlas of Cancer Signalling NetworkPDE6A
Wikipedia pathwaysPDE6A
Orthology - Evolution
OrthoDB5145
GeneTree (enSembl)ENSG00000132915
Phylogenetic Trees/Animal Genes : TreeFamPDE6A
HOVERGENP16499
HOGENOMP16499
Homologs : HomoloGenePDE6A
Homology/Alignments : Family Browser (UCSC)PDE6A
Gene fusions - Rearrangements
Tumor Fusion PortalPDE6A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDE6A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDE6A
dbVarPDE6A
ClinVarPDE6A
1000_GenomesPDE6A 
Exome Variant ServerPDE6A
ExAC (Exome Aggregation Consortium)ENSG00000132915
GNOMAD BrowserENSG00000132915
Genetic variants : HAPMAP5145
Genomic Variants (DGV)PDE6A [DGVbeta]
DECIPHERPDE6A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPDE6A 
Mutations
ICGC Data PortalPDE6A 
TCGA Data PortalPDE6A 
Broad Tumor PortalPDE6A
OASIS PortalPDE6A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPDE6A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPDE6A
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 PDE6A
DgiDB (Drug Gene Interaction Database)PDE6A
DoCM (Curated mutations)PDE6A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PDE6A (select a term)
intoGenPDE6A
Cancer3DPDE6A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM180071    613810   
Orphanet659   
DisGeNETPDE6A
MedgenPDE6A
Genetic Testing Registry PDE6A
NextProtP16499 [Medical]
TSGene5145
GENETestsPDE6A
Target ValidationPDE6A
Huge Navigator PDE6A [HugePedia]
snp3D : Map Gene to Disease5145
BioCentury BCIQPDE6A
ClinGenPDE6A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5145
Chemical/Pharm GKB GenePA33133
Clinical trialPDE6A
Miscellaneous
canSAR (ICR)PDE6A (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePDE6A
EVEXPDE6A
GoPubMedPDE6A
iHOPPDE6A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 13:12:49 CET 2017

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