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Aliases for PDE9A Gene

Aliases for PDE9A Gene

  • Phosphodiesterase 9A 2 3 5
  • CGMP-Specific 3,5-Cyclic Phosphodiesterase Type 9 3
  • Phosphodiesterase PDE9A21 3
  • EC 3.1.4.35 4
  • HSPDE9A2 3

External Ids for PDE9A Gene

Previous GeneCards Identifiers for PDE9A Gene

  • GC21P040621
  • GC21P042968
  • GC21P042946
  • GC21P044073
  • GC21P029521

Summaries for PDE9A Gene

Entrez Gene Summary for PDE9A Gene

  • The protein encoded by this gene catalyzes the hydrolysis of cAMP and cGMP to their corresponding monophosphates. The encoded protein plays a role in signal transduction by regulating the intracellular concentration of these cyclic nucleotides. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for PDE9A Gene

PDE9A (Phosphodiesterase 9A) is a Protein Coding gene. Diseases associated with PDE9A include heart disease. Among its related pathways are Platelet activation, signaling and aggregation and Pyrimidine metabolism (KEGG). GO annotations related to this gene include 3,5-cyclic-nucleotide phosphodiesterase activity and 3,5-cyclic-GMP phosphodiesterase activity. An important paralog of this gene is PDE6A.

UniProtKB/Swiss-Prot for PDE9A Gene

  • Specifically hydrolyzes the second messenger cGMP, which is a key regulator of many important physiological processes. Highly specific: compared to other members of the cyclic nucleotide phosphodiesterase family, has the highest affinity and selectivity for cGMP (PubMed:9624146, PubMed:18757755, PubMed:21483814). Specifically regulates natriuretic-peptide-dependent cGMP signaling in heart, acting as a regulator of cardiac hypertrophy in myocytes and muscle. Does not regulate nitric oxide-dependent cGMP in heart (PubMed:25799991). Additional experiments are required to confirm whether its ability to hydrolyze natriuretic-peptide-dependent cGMP is specific to heart or is a general feature of the protein (Probable). In brain, involved in cognitive function, such as learning and long-term memory (By similarity).

Gene Wiki entry for PDE9A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDE9A Gene

Genomics for PDE9A Gene

Regulatory Elements for PDE9A Gene

Promoters for PDE9A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PDE9A on UCSC Golden Path with GeneCards custom track

Genomic Location for PDE9A Gene

Chromosome:
21
Start:
42,653,636 bp from pter
End:
42,775,520 bp from pter
Size:
121,885 bases
Orientation:
Plus strand

Genomic View for PDE9A Gene

Genes around PDE9A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDE9A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDE9A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDE9A Gene

Proteins for PDE9A Gene

  • Protein details for PDE9A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O76083-PDE9A_HUMAN
    Recommended name:
    High affinity cGMP-specific 3,5-cyclic phosphodiesterase 9A
    Protein Accession:
    O76083
    Secondary Accessions:
    • B2RBI5
    • B4DFI5
    • D3DSJ8
    • D3DSJ9
    • O75490
    • O75491
    • O95225
    • Q53Y40
    • Q5QD39
    • Q86SF7
    • Q86SI6
    • Q86SJ3
    • Q86WN3
    • Q86WN4
    • Q86WN5
    • Q86WN6
    • Q86WN7
    • Q86WN8
    • Q86WN9
    • Q86WP0

    Protein attributes for PDE9A Gene

    Size:
    593 amino acids
    Molecular mass:
    68493 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • PDE9A is a potential target for treatment of diseases such as stress-induced heart disease or long-term memory defects. Specific inhibitors, such as BAY-73-6691 or PF-4449613 are promising candidates for clinical tests.

    Three dimensional structures from OCA and Proteopedia for PDE9A Gene

neXtProt entry for PDE9A Gene

Proteomics data for PDE9A Gene at MOPED

Post-translational modifications for PDE9A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for PDE9A Gene

Domains & Families for PDE9A Gene

Gene Families for PDE9A Gene

Protein Domains for PDE9A Gene

Suggested Antigen Peptide Sequences for PDE9A Gene

Graphical View of Domain Structure for InterPro Entry

O76083

UniProtKB/Swiss-Prot:

PDE9A_HUMAN :
  • Belongs to the cyclic nucleotide phosphodiesterase family. PDE9 subfamily.
Family:
  • Belongs to the cyclic nucleotide phosphodiesterase family. PDE9 subfamily.
genes like me logo Genes that share domains with PDE9A: view

Function for PDE9A Gene

Molecular function for PDE9A Gene

GENATLAS Biochemistry:
cGMP phosphodiesterase 9A,involved in signal transduction
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.113 uM for cGMP {ECO:0000269 PubMed:21483814}; KM=501 uM for cAMP {ECO:0000269 PubMed:21483814}; Vmax=0.285 umol/min/mg enzyme with cGMP as substrate {ECO:0000269 PubMed:21483814}; Vmax=3.7 umol/min/mg enzyme with cAMP as substrate {ECO:0000269 PubMed:21483814}; Note=kcat is 0.18 sec(-1) for cGMP. kcat is 2.37 sec(-1) for cAMP. {ECO:0000269 PubMed:21483814};
UniProtKB/Swiss-Prot CatalyticActivity:
Guanosine 3,5-cyclic phosphate + H(2)O = guanosine 5-phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by zaprinast; inhibitor is however not specific to PDE9A (PubMed:9624146). Specifically inhibited by BAY-73-6691 (1-(2-chlorophenyl)-6-((2R)-3,3,3- trifluoro-2-methylpropyl)-1,5-dihydro-4H-pyrazolo(3,4-d)pyrimidine-4-one) (PubMed:16150925). BAY-73-9961 has two enantiomers, (R) and (S), due to the presence of a chiral center, and both forms vary in their pattern of interaction (PubMed:20121115, PubMed:21483814). Specifically inhibited by PF-4181366 (4H-Pyrazolo[3,4-d]pyrimidin-4-one, 1- cyclopentyl-1,5-dihydro-6-[(3S,4S)-4-methyl- 1-(6-quinoxalinylmethyl)-3-pyrrolidinyl]-one) (PubMed:19919087). Specifically inhibited by PF-4449613 ((R)-6-(1-(3-phenoxyazetidin-1-yl)ethyl)-1-(tetrahydro-2H-pyran-4-yl)-1H-pyrazolo[3,4-d]pyrimidin- 4(5H)-one) (PubMed:25799991). Specifically inhibited by inhibitor 28 (2-((1-(2-Chlorophenyl)-4-hydroxy-1Hpyrazolo[ 3,4-d]pyrimidin-6-yl)amino)-N-(4- methoxyphenyl)propanamide): inhibitor forms a hydrogen bond with Tyr-484 and Gln-513 (PubMed:22985069). Specifically inhibited by 1-Cyclopentyl-6-[(1r)-1-(3-phenoxyazetidin- 1-Yl)ethyl]-1,5-dihydro-4h-pyrazolo[3,4-D] pyrimidin-4-one: inhibitor forms a hydrogen bond with Tyr-484 and Gln-513 (PubMed:23025719).
UniProtKB/Swiss-Prot Function:
Specifically hydrolyzes the second messenger cGMP, which is a key regulator of many important physiological processes. Highly specific: compared to other members of the cyclic nucleotide phosphodiesterase family, has the highest affinity and selectivity for cGMP (PubMed:9624146, PubMed:18757755, PubMed:21483814). Specifically regulates natriuretic-peptide-dependent cGMP signaling in heart, acting as a regulator of cardiac hypertrophy in myocytes and muscle. Does not regulate nitric oxide-dependent cGMP in heart (PubMed:25799991). Additional experiments are required to confirm whether its ability to hydrolyze natriuretic-peptide-dependent cGMP is specific to heart or is a general feature of the protein (Probable). In brain, involved in cognitive function, such as learning and long-term memory (By similarity).
UniProtKB/Swiss-Prot Induction:
Up-regulated in left ventricular hypertrophy from aortic stenosis and following heart failure with preserved ejection fraction (at protein level).

Enzyme Numbers (IUBMB) for PDE9A Gene

Gene Ontology (GO) - Molecular Function for PDE9A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with PDE9A: view
genes like me logo Genes that share phenotypes with PDE9A: view

Animal Models for PDE9A Gene

MGI Knock Outs for PDE9A:

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for PDE9A Gene

Localization for PDE9A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDE9A Gene

Isoform PDE9A1: Cell projection, ruffle membrane. Cytoplasm, perinuclear region. Golgi apparatus. Endoplasmic reticulum. Cell membrane, sarcolemma.
Isoform PDE9A2: Cell projection, ruffle membrane. Cytoplasm, perinuclear region.
Isoform PDE9A3: Cytoplasm. Endoplasmic reticulum.
Isoform PDE9A17: Cytoplasm. Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PDE9A Gene COMPARTMENTS Subcellular localization image for PDE9A gene
Compartment Confidence
cytosol 5
plasma membrane 5
endoplasmic reticulum 3
golgi apparatus 3
nucleus 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PDE9A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042383 sarcolemma IDA 25799991
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with PDE9A: view

Pathways & Interactions for PDE9A Gene

genes like me logo Genes that share pathways with PDE9A: view

Pathways by source for PDE9A Gene

1 KEGG pathway for PDE9A Gene

UniProtKB/Swiss-Prot O76083-PDE9A_HUMAN

  • Pathway: Purine metabolism; 3,5-cyclic GMP degradation; GMP from 3,5-cyclic GMP: step 1/1.

Gene Ontology (GO) - Biological Process for PDE9A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046069 cGMP catabolic process IEA --
genes like me logo Genes that share ontologies with PDE9A: view

No data available for SIGNOR curated interactions for PDE9A Gene

Drugs & Compounds for PDE9A Gene

(11) Drugs for PDE9A Gene - From: IUPHAR, DGIdb, HMDB, DrugBank, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Caffeine Approved Nutra Antagonist, Target, inhibitor, competitive 339
Adenosine monophosphate Approved Nutra 0
3-ISOBUTYL-1-METHYLXANTHINE Experimental Pharma Target 0
Gamma-Glutamyl[S-(2-Iodobenzyl)Cysteinyl]Glycine Experimental Pharma Target 0
cyclic amp Experimental Pharma 0

(2) Additional Compounds for PDE9A Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with PDE9A: view

Transcripts for PDE9A Gene

Unigene Clusters for PDE9A Gene

Phosphodiesterase 9A:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDE9A Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a ·
SP1: - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - - - - - -
SP5: - - - - - - - - - - -
SP6: - - - - - - - - - - - -
SP7:
SP8: - -
SP9: - - - - -
SP10: - - - - -
SP11: - - - - - - - -
SP12: - - - -
SP13:
SP14:

ExUns: 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25
SP1: -
SP2: -
SP3: -
SP4: -
SP5: -
SP6: -
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for PDE9A Gene

GeneLoc Exon Structure for
PDE9A
ECgene alternative splicing isoforms for
PDE9A

Expression for PDE9A Gene

mRNA expression in normal human tissues for PDE9A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PDE9A Gene

This gene is overexpressed in Colon - Transverse (x7.4), Colon - Sigmoid (x5.2), and Small Intestine - Terminal Ileum (x4.4).

Protein differential expression in normal tissues from HIPED for PDE9A Gene

This gene is overexpressed in Plasma (66.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PDE9A Gene



SOURCE GeneReport for Unigene cluster for PDE9A Gene Hs.473927

mRNA Expression by UniProt/SwissProt for PDE9A Gene

O76083-PDE9A_HUMAN
Tissue specificity: Expressed in all tissues examined (testis, brain, small intestine, skeletal muscle, heart, lung, thymus, spleen, placenta, kidney, liver, pancreas, ovary and prostate) except blood (PubMed:9624146). Highest levels in brain, heart, kidney, spleen, prostate and colon. Isoform PDE9A12 is found in prostate (PubMed:12565835). In brain, present in the cortex, cerebellum, and subiculum (at protein level) (PubMed:22328573). In heart, primarily localizes to myocytes (PubMed:25799991).
genes like me logo Genes that share expression patterns with PDE9A: view

Protein tissue co-expression partners for PDE9A Gene

Primer Products

In Situ Assay Products

Orthologs for PDE9A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PDE9A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PDE9A 35
  • 88.55 (n)
  • 91.32 (a)
PDE9A 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDE9A 35
  • 88.95 (n)
  • 92.09 (a)
PDE9A 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pde9a 35
  • 87.4 (n)
  • 93.19 (a)
Pde9a 16
Pde9a 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PDE9A 35
  • 99.37 (n)
  • 99.62 (a)
PDE9A 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pde9a 35
  • 86.87 (n)
  • 92.23 (a)
oppossum
(Monodelphis domestica)
Mammalia PDE9A 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDE9A 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDE9A 35
  • 79.75 (n)
  • 88.39 (a)
PDE9A 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDE9A 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493061 35
  • 66.74 (n)
  • 65.52 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.20838 35
pde9a 35
  • 74.54 (n)
  • 77.95 (a)
CABZ01044346.1 36
  • 71 (a)
OneToMany
pde9a 36
  • 77 (a)
OneToMany
PDE9A (3 of 4) 36
  • 42 (a)
OneToMany
PDE9A (4 of 4) 36
  • 84 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5739 35
fruit fly
(Drosophila melanogaster)
Insecta Pde9 36
  • 15 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDE2 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToMany
CSA.6307 36
  • 40 (a)
OneToMany
Species with no ortholog for PDE9A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PDE9A Gene

ENSEMBL:
Gene Tree for PDE9A (if available)
TreeFam:
Gene Tree for PDE9A (if available)

Paralogs for PDE9A Gene

Paralogs for PDE9A Gene

(7) SIMAP similar genes for PDE9A Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PDE9A: view

Variants for PDE9A Gene

Sequence variations from dbSNP and Humsavar for PDE9A Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs228093 -- 42,656,150(-) TGGGG(C/T)GGATG intron-variant
rs735093 -- 42,686,997(+) AAATG(G/T)GTTGA intron-variant
rs736397 -- 42,698,504(+) GGGGA(G/T)GGGGG intron-variant
rs736398 -- 42,698,503(+) GGGGG(A/G)GGGGG intron-variant
rs739326 -- 42,677,161(+) CTTGG(A/G)GGGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PDE9A Gene

Variant ID Type Subtype PubMed ID
nsv522001 CNV Gain 19592680
esv2666871 CNV Deletion 23128226
nsv913803 CNV Loss 21882294
nsv913804 CNV Loss 21882294
nsv3534 CNV Insertion 18451855
nsv913805 CNV Loss 21882294
nsv913806 CNV Loss 21882294
esv2723566 CNV Deletion 23290073
nsv913807 CNV Loss 21882294
nsv525775 CNV Loss 19592680
esv995110 CNV Deletion 20482838
nsv459276 CNV Gain 19166990
esv2723567 CNV Deletion 23290073
esv2675114 CNV Deletion 23128226
esv2723568 CNV Deletion 23290073
esv1010803 CNV Loss 20482838
esv2723569 CNV Deletion 23290073
esv2670844 CNV Deletion 23128226
nsv913808 CNV Loss 21882294
dgv4752n71 CNV Loss 21882294
nsv459277 CNV Loss 19166990
esv2723570 CNV Deletion 23290073
nsv913811 CNV Gain 21882294
esv1704509 CNV Insertion 17803354
esv2723571 CNV Deletion 23290073

Variation tolerance for PDE9A Gene

Residual Variation Intolerance Score: 37.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.52; 29.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PDE9A Gene

HapMap Linkage Disequilibrium report
PDE9A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDE9A Gene

Disorders for PDE9A Gene

MalaCards: The human disease database

(1) MalaCards diseases for PDE9A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
heart disease
  • congestive heart failure
- elite association - COSMIC cancer census association via MalaCards
Search PDE9A in MalaCards View complete list of genes associated with diseases

Relevant External Links for PDE9A

Genetic Association Database (GAD)
PDE9A
Human Genome Epidemiology (HuGE) Navigator
PDE9A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDE9A
genes like me logo Genes that share disorders with PDE9A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PDE9A Gene

Publications for PDE9A Gene

  1. Isolation and characterization of PDE9A, a novel human cGMP-specific phosphodiesterase. (PMID: 9624146) Fisher D.A. … Cheng J.B. (J. Biol. Chem. 1998) 2 3 4 23 67
  2. Phosphodiesterase genes are associated with susceptibility to major depression and antidepressant treatment response. (PMID: 17008408) Wong M.L. … Licinio J. (Proc. Natl. Acad. Sci. U.S.A. 2006) 3 23
  3. Specific use of start codons and cellular localization of splice variants of human phosphodiesterase 9A gene. (PMID: 17090334) Rentero C. … Puigdomenech P. (BMC Mol. Biol. 2006) 3 23
  4. Identification and characterization of a new human type 9 cGMP- specific phosphodiesterase splice variant (PDE9A5). Differential tissue distribution and subcellular localization of PDE9A variants. (PMID: 14527714) Wang P. … Billah M.M. (Gene 2003) 3 23
  5. Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence. (PMID: 9856478) Guipponi M. … Antonarakis S.E. (Hum. Genet. 1998) 3 23

Products for PDE9A Gene

Sources for PDE9A Gene

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