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PDE9A (phosphodiesterase 9A)

Identity

Other aliasHSPDE9A2
HGNC (Hugo) PDE9A
LocusID (NCBI) 5152
Atlas_Id 53249
Location 21q22.3  [Link to chromosome band 21q22]
Location_base_pair Starts at 42653752 and ends at 42775508 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PDE9A (21q22.3) / ABCG1 (21q22.3)PDE9A (21q22.3) / DHRS7 (14q23.1)PDE9A (21q22.3) / DNAJC5B (8q13.1)
PDE9A (21q22.3) / MUS81 (11q13.1)PDE9A (21q22.3) / NR4A1 (12q13.13)PDE9A (21q22.3) / REXO1L1P (8q21.2)
PDE9A (21q22.3) / SLC37A1 (21q22.3)PDE9A (21q22.3) / VWF (12p13.31)SYNJ1 (21q22.11) / PDE9A (21q22.3)
PDE9A 21q22.3 / ABCG1 21q22.3PDE9A 21q22.3 / DHRS7 14q23.1PDE9A 21q22.3 / SLC37A1 21q22.3
SYNJ1 21q22.11 / PDE9A 21q22.3

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)PDE9A   8795
Cards
Entrez_Gene (NCBI)PDE9A  5152  phosphodiesterase 9A
AliasesHSPDE9A2
GeneCards (Weizmann)PDE9A
Ensembl hg19 (Hinxton)ENSG00000160191 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000160191 [Gene_View]  chr21:42653752-42775508 [Contig_View]  PDE9A [Vega]
ICGC DataPortalENSG00000160191
TCGA cBioPortalPDE9A
AceView (NCBI)PDE9A
Genatlas (Paris)PDE9A
WikiGenes5152
SOURCE (Princeton)PDE9A
Genetics Home Reference (NIH)PDE9A
Genomic and cartography
GoldenPath hg38 (UCSC)PDE9A  -     chr21:42653752-42775508 +  21q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PDE9A  -     21q22.3   [Description]    (hg19-Feb_2009)
EnsemblPDE9A - 21q22.3 [CytoView hg19]  PDE9A - 21q22.3 [CytoView hg38]
Mapping of homologs : NCBIPDE9A [Mapview hg19]  PDE9A [Mapview hg38]
OMIM602973   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PDE9A
Cluster EST : UnigeneHs.473927 [ NCBI ]
CGAP (NCI)Hs.473927
Alternative Splicing GalleryENSG00000160191
Gene ExpressionPDE9A [ NCBI-GEO ]   PDE9A [ EBI - ARRAY_EXPRESS ]   PDE9A [ SEEK ]   PDE9A [ MEM ]
Gene Expression Viewer (FireBrowse)PDE9A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5152
GTEX Portal (Tissue expression)PDE9A
Protein : pattern, domain, 3D structure
UniProt/SwissProtO76083   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO76083  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO76083
Splice isoforms : SwissVarO76083
PhosPhoSitePlusO76083
Domaine pattern : Prosite (Expaxy)PDEASE_I (PS00126)   
Domains : Interpro (EBI)HD/PDEase_dom    PDEase    PDEase_catalytic_dom    PDEase_CS   
Domain families : Pfam (Sanger)PDEase_I (PF00233)   
Domain families : Pfam (NCBI)pfam00233   
Domain families : Smart (EMBL)HDc (SM00471)  
Conserved Domain (NCBI)PDE9A
DMDM Disease mutations5152
Blocks (Seattle)PDE9A
PDB (SRS)2HD1    2YY2    3DY8    3DYL    3DYN    3DYQ    3DYS    3JSI    3JSW    3K3E    3K3H    3N3Z    3QI3    3QI4    4E90    4G2J    4G2L    4GH6    4Y86    4Y87    4Y8C   
PDB (PDBSum)2HD1    2YY2    3DY8    3DYL    3DYN    3DYQ    3DYS    3JSI    3JSW    3K3E    3K3H    3N3Z    3QI3    3QI4    4E90    4G2J    4G2L    4GH6    4Y86    4Y87    4Y8C   
PDB (IMB)2HD1    2YY2    3DY8    3DYL    3DYN    3DYQ    3DYS    3JSI    3JSW    3K3E    3K3H    3N3Z    3QI3    3QI4    4E90    4G2J    4G2L    4GH6    4Y86    4Y87    4Y8C   
PDB (RSDB)2HD1    2YY2    3DY8    3DYL    3DYN    3DYQ    3DYS    3JSI    3JSW    3K3E    3K3H    3N3Z    3QI3    3QI4    4E90    4G2J    4G2L    4GH6    4Y86    4Y87    4Y8C   
Structural Biology KnowledgeBase2HD1    2YY2    3DY8    3DYL    3DYN    3DYQ    3DYS    3JSI    3JSW    3K3E    3K3H    3N3Z    3QI3    3QI4    4E90    4G2J    4G2L    4GH6    4Y86    4Y87    4Y8C   
SCOP (Structural Classification of Proteins)2HD1    2YY2    3DY8    3DYL    3DYN    3DYQ    3DYS    3JSI    3JSW    3K3E    3K3H    3N3Z    3QI3    3QI4    4E90    4G2J    4G2L    4GH6    4Y86    4Y87    4Y8C   
CATH (Classification of proteins structures)2HD1    2YY2    3DY8    3DYL    3DYN    3DYQ    3DYS    3JSI    3JSW    3K3E    3K3H    3N3Z    3QI3    3QI4    4E90    4G2J    4G2L    4GH6    4Y86    4Y87    4Y8C   
SuperfamilyO76083
Human Protein AtlasENSG00000160191
Peptide AtlasO76083
HPRD09115
IPIIPI00008806   IPI00418691   IPI00873811   IPI00419058   IPI00419057   IPI00419056   IPI00384465   IPI00954837   IPI00221058   IPI00221059   IPI00221060   IPI00419063   IPI00418694   IPI00418692   IPI00384467   IPI00419059   IPI01014965   IPI00168395   
Protein Interaction databases
DIP (DOE-UCLA)O76083
IntAct (EBI)O76083
FunCoupENSG00000160191
BioGRIDPDE9A
STRING (EMBL)PDE9A
ZODIACPDE9A
Ontologies - Pathways
QuickGOO76083
Ontology : AmiGO3',5'-cyclic-nucleotide phosphodiesterase activity  protein binding  endoplasmic reticulum  Golgi apparatus  cytosol  cytosol  signal transduction  positive regulation of cardiac muscle hypertrophy  cGMP-mediated signaling  ruffle membrane  sarcolemma  perikaryon  cGMP metabolic process  cGMP catabolic process  cGMP catabolic process  metal ion binding  3',5'-cyclic-GMP phosphodiesterase activity  3',5'-cyclic-GMP phosphodiesterase activity  perinuclear region of cytoplasm  
Ontology : EGO-EBI3',5'-cyclic-nucleotide phosphodiesterase activity  protein binding  endoplasmic reticulum  Golgi apparatus  cytosol  cytosol  signal transduction  positive regulation of cardiac muscle hypertrophy  cGMP-mediated signaling  ruffle membrane  sarcolemma  perikaryon  cGMP metabolic process  cGMP catabolic process  cGMP catabolic process  metal ion binding  3',5'-cyclic-GMP phosphodiesterase activity  3',5'-cyclic-GMP phosphodiesterase activity  perinuclear region of cytoplasm  
Pathways : KEGGPurine metabolism   
NDEx NetworkPDE9A
Atlas of Cancer Signalling NetworkPDE9A
Wikipedia pathwaysPDE9A
Orthology - Evolution
OrthoDB5152
GeneTree (enSembl)ENSG00000160191
Phylogenetic Trees/Animal Genes : TreeFamPDE9A
HOVERGENO76083
HOGENOMO76083
Homologs : HomoloGenePDE9A
Homology/Alignments : Family Browser (UCSC)PDE9A
Gene fusions - Rearrangements
Fusion : MitelmanPDE9A/ABCG1 [21q22.3/21q22.3]  
Fusion : MitelmanPDE9A/DHRS7 [21q22.3/14q23.1]  [t(14;21)(q23;q22)]  
Fusion : MitelmanPDE9A/MUS81 [21q22.3/11q13.1]  [t(11;21)(q13;q22)]  
Fusion : MitelmanPDE9A/REXO1L1P [21q22.3/8q21.2]  [t(8;21)(q21;q22)]  
Fusion : MitelmanPDE9A/SLC37A1 [21q22.3/21q22.3]  [t(21;21)(q22;q22)]  
Fusion : MitelmanPDE9A/VWF [21q22.3/12p13.31]  [t(12;21)(p13;q22)]  
Fusion : MitelmanSYNJ1/PDE9A [21q22.11/21q22.3]  [t(21;21)(q22;q22)]  
Fusion: TCGAPDE9A 21q22.3 ABCG1 21q22.3 LUAD
Fusion: TCGAPDE9A 21q22.3 DHRS7 14q23.1 LGG
Fusion: TCGAPDE9A 21q22.3 SLC37A1 21q22.3 PRAD
Fusion: TCGASYNJ1 21q22.11 PDE9A 21q22.3 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDE9A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDE9A
dbVarPDE9A
ClinVarPDE9A
1000_GenomesPDE9A 
Exome Variant ServerPDE9A
ExAC (Exome Aggregation Consortium)PDE9A (select the gene name)
Genetic variants : HAPMAP5152
Genomic Variants (DGV)PDE9A [DGVbeta]
DECIPHERPDE9A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPDE9A 
Mutations
ICGC Data PortalPDE9A 
TCGA Data PortalPDE9A 
Broad Tumor PortalPDE9A
OASIS PortalPDE9A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPDE9A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPDE9A
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
BioMutasearch PDE9A
DgiDB (Drug Gene Interaction Database)PDE9A
DoCM (Curated mutations)PDE9A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PDE9A (select a term)
intoGenPDE9A
Cancer3DPDE9A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602973   
Orphanet
MedgenPDE9A
Genetic Testing Registry PDE9A
NextProtO76083 [Medical]
TSGene5152
GENETestsPDE9A
Target ValidationPDE9A
Huge Navigator PDE9A [HugePedia]
snp3D : Map Gene to Disease5152
BioCentury BCIQPDE9A
ClinGenPDE9A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5152
Chemical/Pharm GKB GenePA33143
Clinical trialPDE9A
Miscellaneous
canSAR (ICR)PDE9A (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePDE9A
EVEXPDE9A
GoPubMedPDE9A
iHOPPDE9A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:48:55 CEST 2017

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