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PDE11A Gene

protein-coding   GIFtS: 65
GCID: GC02M178487

Phosphodiesterase 11A

  See PDE11A-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Phosphodiesterase 11A1 2     CAMP And CGMP Phosphodiesterase 11A3
EC 3.1.4.353 8     PDE11A15
PPNAD22 5     PDE11A25
CAMP And CGMP Cyclic Nucleotide Phosphodiesterase 11A2     PDE11A35
Dual 3',5'-Cyclic-AMP And -GMP Phosphodiesterase 11A2     EC 3.1.48
EC 3.1.4.173     

External Ids:    HGNC: 87731   Entrez Gene: 509402   Ensembl: ENSG000001286557   OMIM: 6049615   UniProtKB: Q9HCR93   

Export aliases for PDE11A gene to outside databases

Previous GC identifers: GC02M176555 GC02M177163 GC02M178455 GC02M178695 GC02M178318 GC02M178201 GC02M170359


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PDE11A Gene:
The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction
pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the
corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene
encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and
adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this
gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for PDE11A Gene:
PDE11A (phosphodiesterase 11A) is a protein-coding gene. Diseases associated with PDE11A include pigmented nodular adrenocortical disease, primary, 2, and retinitis pigmentosa 42. GO annotations related to this gene include cAMP binding and 3',5'-cyclic-nucleotide phosphodiesterase activity. An important paralog of this gene is PDE6A.

UniProtKB/Swiss-Prot: PDE11_HUMAN, Q9HCR9
Function: Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides
cAMP and cGMP. Catalyzes the hydrolysis of both cAMP and cGMP to 5'-AMP and 5'-GMP, respectively

summary for PDE11A Gene:
Phosphodiesterases (PDEs) are a family of related phosphohydrolyases that selectively catalyze the
hydrolysis of 3' cyclic phosphate bonds in adenosine and/or guanine 3',5' cyclic monophosphate (cAMP and/or
cGMP). They regulate the cellular levels, localization and duration of action of these second messengers by
controlling the rate of their degradation. There are 11 subtypes of PDEs, named PDE1-11; PDE4, 7 and 8
selectively degrade cAMP, PDE5, 6 and 9 selectively degrade cGMP and PDE1, 2, 3, 10 and 11 degrade both
cyclic nucleotides. PDEs are expressed ubiquitously, with each subtype having a specific tissue
distribution. These enzymes are involved in many signal transduction pathways and their functions include
vascular smooth muscle proliferation and contraction, cardiac contractility, platelet aggregation, hormone
secretion, immune cell activation, and they are involved in learning and memory.

Gene Wiki entry for PDE11A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the PDE11A gene promoter:
         Brachyury   Nkx2-5   Ik-3   HNF-1A   AREB6   PPAR-gamma1   HNF-1   Sox9   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPDE11A promoter sequence
   Search Chromatin IP Primers for PDE11A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PDE11A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q31.2   Ensembl cytogenetic band:  2q31.2   HGNC cytogenetic band: 2q31.3

PDE11A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDE11A gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M178487:  view genomic region     (about GC identifiers)

Start:
178,487,977 bp from pter      End:
178,973,066 bp from pter
Size:
485,090 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PDE11_HUMAN, Q9HCR9 (See protein sequence)
Recommended Name: Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A  
Size: 933 amino acids; 104752 Da
Cofactor: Binds 2 divalent metal cations per subunit. Site 1 may preferentially bind zinc ions, while site 2 has a
preference for magnesium and/or manganese ions (By similarity)
Secondary accessions: Q14CD1 Q53T16 Q96S76 Q9GZY7 Q9HB46 Q9NY45
Alternative splicing: 4 isoforms:  Q9HCR9-1   Q9HCR9-2   Q9HCR9-3   Q9HCR9-4   

Explore the universe of human proteins at neXtProt for PDE11A: NX_Q9HCR9

Explore proteomics data for PDE11A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for PDE11A (Q9HCR9)
     HDLDHRG  IFCGLGI 


    See PDE11A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001070664.1  NP_001070665.1  NP_001070826.1  NP_058649.3  

    ENSEMBL proteins: 
     ENSP00000286063   ENSP00000351232   ENSP00000406922   ENSP00000386539   ENSP00000374333  
     ENSP00000416884   ENSP00000389777   ENSP00000390599   ENSP00000387964  
    Reactome Protein details: Q9HCR9

    PDE11A Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for PDE11A

     
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    Cloud-Clone Corp. ELISAs for PDE11A
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PDE: Phosphodiesterases

    IUPHAR Guide to PHARMACOLOGY protein family classification: PDE11A
    Phosphodiesterases, 3',5'-cyclic nucleotide

    5 InterPro protein domains:
     IPR002073 PDEase_catalytic_dom
     IPR003018 GAF
     IPR023174 PDEase_CS
     IPR023088 PDEase
     IPR003607 HD/PDEase_dom

    Graphical View of Domain Structure for InterPro Entry Q9HCR9

    ProtoNet protein and cluster: Q9HCR9

    1 Blocks protein domain: IPB003018 GAF domain

    UniProtKB/Swiss-Prot: PDE11_HUMAN, Q9HCR9
    Domain: The tandem GAF domains bind cGMP, and regulate enzyme activity. The binding of cGMP stimulates enzyme
    activity
    Similarity: Belongs to the cyclic nucleotide phosphodiesterase family
    Similarity: Contains 2 GAF domains


    Find genes that share domains with PDE11A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PDE11_HUMAN, Q9HCR9
    Function: Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides
    cAMP and cGMP. Catalyzes the hydrolysis of both cAMP and cGMP to 5'-AMP and 5'-GMP, respectively
    Catalytic activity: Guanosine 3',5'-cyclic phosphate + H(2)O = guanosine 5'-phosphate
    Catalytic activity: Adenosine 3',5'-cyclic phosphate + H(2)O = adenosine 5'-phosphate
    Enzyme regulation: Inhibited by 3-isobutyl-1-methylxanthine (IBMX), zaprinast and dipyridamole. cGMP acts as an
    allosteric activator. Weakly inhibited by Sildenafil (Viagra) and Tadalafil (Cialis); however, the fact that the
    protein is probably absent from testis, suggests that it is not biologically relevant and is not related with
    erectile dysfunction
    Biophysicochemical properties: Kinetic parameters: KM=3.0 uM for cAMP (isoform 1); KM=1.4 uM for cGMP (isoform 1);
    KM=3.0 uM for cAMP (isoform 2); KM=1.5 uM for cGMP (isoform 2); KM=3.3 uM for cAMP (isoform 3); KM=3.7 uM for
    cGMP (isoform 3); KM=1.04 uM for cAMP (isoform 4); KM=0.52 uM for cGMP (isoform 4); Vmax=3.6 pmol/min/ug enzyme
    with cAMP as substrate (isoform 4); Vmax=3.9 pmol/min/ug enzyme with cGMP as substrate (isoform 4); Vmax=270
    pmol/min/ug enzyme with cAMP as substrate (isoform 1); Vmax=120 pmol/min/ug enzyme with cGMP as substrate
    (isoform 1);

         Enzyme Numbers (IUBMB): EC 3.1.4.351 2 EC 3.1.4.171 EC 3.1.42

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004112cyclic-nucleotide phosphodiesterase activity NAS10906126
    GO:00041143',5'-cyclic-nucleotide phosphodiesterase activity TAS10725373
    GO:0004118cGMP-stimulated cyclic-nucleotide phosphodiesterase activity IDA19689430
    GO:0005515protein binding ----
         
    Find genes that share ontologies with PDE11A           About GenesLikeMe


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pde11a):
     behavior/neurological  nervous system 

    Find genes that share phenotypes with PDE11A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pde11atm1Lex for PDE11A

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PDE11A
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PDE11A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PDE11A

    miRNA
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    miRTarBase miRNAs that target PDE11A:
    hsa-mir-26b-5p (MIRT029552)

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    Selected qRT-PCR Assays for microRNAs that regulate PDE11A (see all 17):
    hsa-miR-4291 hsa-miR-3942-5p hsa-miR-138-2* hsa-miR-650 hsa-miR-4275 hsa-miR-877* hsa-miR-380* hsa-miR-7-1*
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDE11A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PDE11_HUMAN, Q9HCR9: Cytoplasm, cytosol
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    plasma membrane3
    cytoskeleton1
    endoplasmic reticulum1
    golgi apparatus1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005829cytosol TAS--
    GO:0043204perikaryon IEA--

    Find genes that share ontologies with PDE11A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PDE11A About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    2Nitric oxide stimulates guanylate cyclase
    Nitric oxide stimulates guanylate cyclase
    cGMP effects0.00
    3Circadian entrainment
    Morphine addiction0.53
    4Hemostasis
    Hemostasis0.43
    5Purine metabolism (KEGG)
    Purine metabolism0.38


    Find genes that share SuperPaths with PDE11A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for PDE11A
        cGMP effects
    G alpha (s) signalling events


    2 Kegg Pathways  (Kegg details for PDE11A):
        Purine metabolism
    Morphine addiction

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PDE11A
    Interactions:

        Search GeneGlobe Interaction Network for PDE11A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PDE11A (ENSP000002860634) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADCY1ENSP000002973234STRING: ENSP00000297323
    ADCY10ENSP000003568254STRING: ENSP00000356825
    ADCY2ENSP000003429524STRING: ENSP00000342952
    ADCY3ENSP000002606004STRING: ENSP00000260600
    ADCY6ENSP000003114054STRING: ENSP00000311405
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006198cAMP catabolic process IEA--
    GO:0007165signal transduction IEA--
    GO:0007596blood coagulation TAS--
    GO:0046069cGMP catabolic process IEA--

    Find genes that share ontologies with PDE11A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for PDE11A available from Tocris Bioscience    About this table
    CompoundAction CAS #
    CilostamidePDE3 inhibitor[68550-75-4]
    RolipramPDE4 inhibitor[61413-54-5]
    IBMXPDE inhibitor (non-selective)[28822-58-4]
    Sildenafil citrate Orally active, potent PDE5 inhibitor [171599-83-0]
    (R)-(-)-RolipramPDE4 inhibitor. More active enantiomer of rolipram (Cat. No. 0905)[85416-75-7]

    6 HMDB Compounds for PDE11A    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Cyclic AMPCyclic AMP (see all 19)60-92-4--
    Cyclic GMP3',5'-cyclic GMP (see all 13)7665-99-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    SildenafilCaverta (see all 4)139755-83-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 DrugBank Compound for PDE11A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    TadalafilICOS 351 (see all 2)171596-29-5targetinhibitor17696499 19641165

    3 Novoseek inferred chemical compound relationships for PDE11A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cgmp 68 9 10725373 (2), 19689430 (2), 17696499 (2), 15995148 (1) (see all 5)
    zaprinast 67.1 1 10725373 (1)
    dipyridamole 45.1 1 10725373 (1)



    Find genes that share compounds with PDE11A           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PDE11A gene (4 alternative transcripts): 
    NM_001077196.1  NM_001077197.1  NM_001077358.1  NM_016953.3  

    Unigene Cluster for PDE11A:

    Phosphodiesterase 11A
    Hs.570273  [show with all ESTs]
    Unigene Representative Sequence: NM_016953
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000286063(uc002ulq.3) ENST00000358450(uc010zfd.2 uc002ulp.3 uc002ulr.3 uc002ult.1)
    ENST00000436700 ENST00000409504(uc002uls.1) ENST00000478646 ENST00000389683
    ENST00000488399 ENST00000466790 ENST00000433879 ENST00000497003 ENST00000492761
    ENST00000427127 ENST00000449286(uc002ulu.1) ENST00000450799
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    hsa-miR-4291 hsa-miR-3942-5p hsa-miR-138-2* hsa-miR-650 hsa-miR-4275 hsa-miR-877* hsa-miR-380* hsa-miR-7-1*
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    Additional mRNA sequence: 

    AB036704.1 AB038041.1 AF281865.1 AJ251509.1 AJ278682.1 AK074273.1 AK127194.1 AK294076.1 
    AK309155.1 BC112393.1 BC114431.1 BX649056.1 

    7 DOTS entries:

    DT.91746501  DT.104725  DT.99940553  DT.91668637  DT.100653938  DT.95080586  DT.40128920 

    10 AceView cDNA sequences:

    AB038041 AK074273 AJ278682 BX105579 AJ251509 BX649056 AB036704 AF281865 
    NM_016953 AI025081 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PDE11A    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b
    SP1:              -           -                                                                                   -           -                                 
    SP2:                          -                                                                                   -           -                                 
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                      -                     


    ECgene alternative splicing isoforms for PDE11A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PDE11A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTAACCTT
    PDE11A Expression
    About this image

    PDE11A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PDE11A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.570273

    UniProtKB/Swiss-Prot: PDE11_HUMAN, Q9HCR9
    Tissue specificity: Isoform 1 is present in prostate, pituitary, heart and liver. It is however not present in
    testis nor in penis, suggesting that weak inhibition by Tadalafil (Cialis) is not relevant (at protein level).
    Isoform 2 may be expressed in testis. Isoform 4 is expressed in adrenal cortex

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PDE11A gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pde11a1 , 5 phosphodiesterase 11A1, 5 88.63(n)1
    94.64(a)1
      2 (44.80 cM)5
    2414891  NM_001081033.11  NP_001074502.11 
     759891415 
    chicken
    (Gallus gallus)
    Aves PDE11A1 phosphodiesterase 11A 82.56(n)
    91.37(a)
      424133  XM_421985.4  XP_421985.4 
    lizard
    (Anolis carolinensis)
    Reptilia PDE11A6
    phosphodiesterase 11A
    87(a)
    1 ↔ 1
    GL343411.1(46118-291722)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pde11a1 phosphodiesterase 11A 78.16(n)
    88.12(a)
      100379882  XM_002934600.2  XP_002934646.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pde11a1 phosphodiesterase 11a 74.02(n)
    85.71(a)
      561338  XM_684746.5  XP_689838.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG102313
    Pde61
    cGMP-specific phosphodiesterase3
    Phosphodiesterase 61
    46(a)
    (best of 2)3
    52.21(n)1
    45.97(a)1
      417601  NM_142112.41  NP_650369.31 


    ENSEMBL Gene Tree for PDE11A (if available)
    TreeFam Gene Tree for PDE11A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PDE11A gene
    PDE6A2  PDE3A2  PDE6B2  PDE6C2  PDE2A2  PDE5A2  PDE10A2  PDE3B2  
    9 SIMAP similar genes for PDE11A using alignment to 9 protein entries:     PDE11_HUMAN (see all proteins):
    PDE5A    PDE6B    PDE6A    PDE2A    PDE4    PDE10A
    PDE6C    PDE7B variant protein    PDE4D

    Find genes that share paralogs with PDE11A           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PDE11A (see all 10265)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs763081151,2
    C,Fpathogenic1170749563(-) ATCGAC/TGATTC 4 R * stg12Minor allele frequency- T:0.00NA EU 5855
    rs1418771401,2
    --170358609(+) TGCTGC/TAGTTT 3 -- ds50010--------
    rs1460644961,2
    --170358635(+) GCACAA/GTGGTG 3 -- ds50010--------
    rs22934711,2
    C,F,A,H--170358787(+) ATTTGG/TCCGCA 3 -- ds500130Minor allele frequency- T:0.18EA NS NA WA CSA 4256
    rs1857772231,2
    --170358790(+) TGTCCA/GCAGAC 3 -- ds50010--------
    rs766908041,2
    --170358860(+) TATATA/GGACAG 3 -- ds50010--------
    rs22934721,2
    C,F,H--170358867(+) ACAGGC/GGTGTC 3 -- ds50018Minor allele frequency- G:0.20EA NS WA NA 2260
    rs1418542751,2
    --170358954(+) ACTGTA/GGGTAT 3 -- ds50010--------
    rs1462707881,2
    --170358956(+) TGTAGA/GTATTT 3 -- ds50010--------
    rs1391670771,2
    C--170358967(+) GGATGC/TTTGCT 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for PDE11A (178487977 - 178737977 bp, first 250kb of PDE11A)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PDE11A (see all 45):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678243CNV Deletion23128226
    esv2721186CNV Deletion23290073
    esv2721182CNV Deletion23290073
    esv2721183CNV Deletion23290073
    esv1296090CNV Deletion17803354
    esv1970130CNV Deletion18987734
    esv2721187CNV Deletion23290073
    esv2721189CNV Deletion23290073
    esv2721185CNV Deletion23290073
    esv2721188CNV Deletion23290073

    Human Gene Mutation Database (HGMD): PDE11A
    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604961   
    OMIM disorders: 610475  
    UniProtKB/Swiss-Prot: PDE11_HUMAN, Q9HCR9
  • Primary pigmented nodular adrenocortical disease 2 (PPNAD2) [MIM:610475]: A rare bilateral adrenal defect
    causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small
    pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple
    small yellow-to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are
    moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive
    circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of
    Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial
    hypertension, diabetes. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 5 diseases for PDE11A:    
    About MalaCards
    pigmented nodular adrenocortical disease, primary, 2    retinitis pigmentosa 42    cushing syndrome, acth-independent adrenal, somatic    acth-independent macronodular adrenal hyperplasia
    primary pigmented nodular adrenocortical disease

    2 diseases from the University of Copenhagen DISEASES database for PDE11A:
    Carney complex     Cushing's syndrome

    Find genes that share disorders with PDE11A           About GenesLikeMe

    4 Novoseek inferred disease relationships for PDE11A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cushing syndrome 81.4 5 18559625 (1), 19063937 (1), 20351491 (1)
    hyperplasia 63.4 9 18559625 (3), 17178847 (1), 17578766 (1)
    tumors 20.9 38 18559625 (6), 19671705 (3), 18431404 (1), 17955016 (1) (see all 5)
    carcinoma 0 1 15995148 (1)

    Genetic Association Database (GAD): PDE11A
    Human Genome Epidemiology (HuGE) Navigator: PDE11A (18 documents)

    Export disorders for PDE11A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PDE11A gene, integrated from 10 sources (see all 55):
    (articles sorted by number of sources associating them with PDE11A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of a distinct human phosphodiesterase gene family: PDE11A. (PubMed id 10725373)1, 2, 3, 9 Fawcett L.... Phillips S.C. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    2. Analysis of genetic variants of phosphodiesterase 11A in acromegalic patients. (PubMed id 19671705)1, 4, 9 Peverelli E....Spada A. (Eur. J. Endocrinol. 2009)
    3. Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors. (PubMed id 18559625)1, 4, 9 LibAc R....Bertherat J. (Clin. Cancer Res. 2008)
    4. Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population. (PubMed id 17178847)1, 4, 9 Horvath A....Stratakis C.A. (Cancer Res. 2006)
    5. Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors. (PubMed id 19549888)1, 4, 9 Horvath A....Stratakis C.A. (Cancer Res. 2009)
    6. Cloning and characterisation of two splice variants of human phosphodiesterase 11A. (PubMed id 11050148)1, 2, 9 Hetman J.M.... Beavo J.A. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    7. 3',5'-cyclic nucleotide phosphodiesterase 11A: localization in human tissues. (PubMed id 15800651)1, 2, 9 Loughney K.... Florio V.A. (Int. J. Impot. Res. 2005)
    8. Isolation and characterization of two novel phosphodiesterase PDE11A variants showing unique structure and tissue-specific expression. (PubMed id 10906126)1, 2, 9 Yuasa K.... Omori K. (J. Biol. Chem. 2000)
    9. Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer. (PubMed id 20881257)1, 4 Faucz F.R....Stratakis C.A. (J. Clin. Endocrinol. Metab. 2011)
    10. Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype. (PubMed id 21047926)1, 4 LibAc R....Stratakis C.A. (J. Clin. Endocrinol. Metab. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 50940 HGNC: 8773 AceView: PDE11AandHCP9 Ensembl:ENSG00000128655 euGenes: HUgn50940
    ECgene: PDE11A Kegg: 50940 H-InvDB: PDE11A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PDE11A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PDE11A Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PDE11A gene:
    Search GeneIP for patents involving PDE11A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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