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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PDE11A Gene

protein-coding   GIFtS: 63
GCID: GC02M178487

phosphodiesterase 11A
 Explore 17 diseases affiliated with
PDE11A via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PDE11A    

Aliases
for PDE11A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
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


Summaries
for PDE11A gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PDE11A:
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)

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:
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences 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 plasmid: PDE11A promoter sequence
   Search SABiosciences Chromatin IP Primers for PDE11A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for PDE11A gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Cytoplasm, cytosol
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9HCR9

    • 2 DME Specific Peptides for PDE11A (Q9HCR9)
     HDLDHRG  IFCGLGI 

    PDE11A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals PDE11A Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PDE11A

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005625soluble fraction ----
    GO:0005829cytosol TAS--
    GO:0043204perikaryon IEA--


    PDE11A for ontologies           About GeneDecksing



    PDE11A Antibody Products: 
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    ThermoFisher Antibodies for PDE11A

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    Uscn ELISAs and CLIAs for PDE11A

    Protein Domains /
    Families
    for PDE11A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PDE11A for domains           About GeneDecksing

    5 InterPro domains/families:
     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 family: 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


    Function
    for PDE11A gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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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*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for PDE11A

    In Situ Assay
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004112cyclic-nucleotide phosphodiesterase activity NAS10906126
    GO:00041143',5'-cyclic-nucleotide phosphodiesterase activity TAS10725373
    GO:0004118cGMP-stimulated cyclic-nucleotide phosphodiesterase activity IDA19689430
    GO:0030552cAMP binding IEA--
    GO:0030553cGMP binding IDA19689430


    PDE11A for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Pde11atm1Lex for PDE11A
         2 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Pde11a):
     behavior/neurological  nervous system 

    PDE11A for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PDE11A gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Nitric oxide stimulates guanylate cyclase
    		Nitric oxide stimulates guanylate cyclase1.00
    		Platelet homeostasis0.34
    		cGMP effects0.75
    2Signaling by GPCR
    		Signaling by GPCR1.00
    		Signal Transduction0.56
    		GPCR downstream signaling0.89
    3Purine metabolism
    		Purine metabolism1.00
    4Platelet activation, signaling and aggregation
    		Hemostasis0.43
    5G beta:gamma signalling through PLC beta
    		G alpha (s) signalling events0.14

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/8        Reactome Pathways for PDE11A (see all 8)
        GPCR downstream signaling
    Hemostasis
    cGMP effects
    Signal Transduction
    Platelet homeostasis


    1         Kegg Pathway  (Kegg details for PDE11A):
        Purine metabolism


    PDE11A for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PDE11A

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

    5/53 Interacting proteins for PDE11A (ENSP000002860634) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADCY1ENSP000002973234STRING: ENSP00000297323
    ADCY10ENSP000003568254STRING: ENSP00000356825
    ADCY2ENSP000003429524STRING: ENSP00000342952
    ADCY6ENSP000003114054STRING: ENSP00000311405
    ADCY9ENSP000002940164STRING: ENSP00000294016
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    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--


    PDE11A for ontologies           About GeneDecksing



    Drugs & Compounds
    for PDE11A gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PDE11A for compounds           About GeneDecksing

    EMD Millipore small molecules for PDE11A:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for PDE11A available from Tocris Bioscience    About this table
    CompoundAction CAS #
    DipyridamoleAdenosine transport inhibitor[58-32-2]
    BC 11-38Selective PDE11 inhibitor[68770-80-9]

    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 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)

    Search CenterWatch for drugs/clinical trials and news about PDE11A / PDE11 

    Transcripts
    for PDE11A gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    Clone
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    Additional cDNA 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 BX649056 AF281865 NM_016953 AB036704 AJ278682 BX105579 AK074273 
    AJ251509 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

    Expression
    for PDE11A gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PDE11A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTTAACCTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PDE11A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See PDE11A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PDE11A

    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
    for PDE11A gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for PDE11A gene from 4/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves PDE11A1 phosphodiesterase 11A 81.93(n)
    90.49(a)    		   424133  XM_421985.3  XP_421985.3 
    lizard
    (Anolis carolinensis)    		 Reptilia PDE11A6
    		 --
    		 87(a)
    		 1 ↔ 1
    		 GL343411.1(46118-287068)
    zebrafish
    (Danio rerio)    		 Actinopterygii pde11a1 phosphodiesterase 11a 73.53(n)
    85.01(a)    		   561338  XM_684746.4  XP_689838.4 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG102313
    Pde61    		 cGMP-specific phosphodiesterase3
    Phosphodiesterase 61    		 46(a)
    (best of 2)3
    50.76(n)1
    43.87(a)1    		   417601  NM_142112.31  NP_650369.31 


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

    Paralogs
    for PDE11A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PDE11A gene
    PDE6A2  PDE2A2  PDE6B2  PDE5A2  PDE10A2  PDE6C2  
    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

    PDE11A for paralogs           About GeneDecksing



    Genomic Variants
    for PDE11A gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/8673 NCBI SNPs in PDE11A are shown (see all 8673)     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,F,pathogenic170749563(-) ATCGAC/TGATTC 4 R * stg12Minor allele frequency- T:0.00NA EU 5855
    rs766908041,2
    		--170358860(+) TATATA/GGACAG 3 -- ds50010--------
    rs1114097961,2
    		--170359131(+) AACCTG/TTCTAT 3 -- ut311Minor allele frequency- T:0.50CSA 2
    rs168654691,2
    		C,--170359480(+) AACGGT/CGGCAC 3 -- ut314Minor allele frequency- C:0.02NA WA 258
    rs746271441,2
    		C,--170359557(+) ATACA-/TWWAAT 6 -- ut310--------
    rs768367291,2
    		C,F,--170359866(+) CCTTTA/GCATTT 3 -- ut311Minor allele frequency- G:0.03WA 118
    rs1131142031,2
    		--170359906(+) TACAGC/TATGTA 3 -- ut311Minor allele frequency- T:0.50CSA 2
    rs1141546301,2
    		C,F,--170360234(+) GCAGAA/CTAAAT 3 -- ut311Minor allele frequency- C:0.06WA 118
    rs754165151,2
    		C,F,--170360266(+) CCTAGT/GGTTAA 3 -- ut311Minor allele frequency- G:0.02NA 120
    rs760678421,2
    		C,F,--170360508(+) ATGACT/CACCAT 3 -- ut311Minor allele frequency- C:0.05WA 118

    HapMap Linkage Disequilibrium report for PDE11A (178487977 - 178737977 bp, first 250kb of PDE11A)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 15 variations for PDE11A
         7 CNVs: 63241 63240 50340 98067 98066 6012 68204
         8 Indels: 26498 78869 63242 90143 58933 26497 78868 60339
    Human Gene Mutation Database (HGMD): PDE11A

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    Disorders / Diseases
    for PDE11A gene

    (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.)
    About This Section
    PDE11A for disorders           About GeneDecksing

    OMIM gene information: 604961   
    OMIM disorders: 610475  
    UniProtKB/Swiss-Prot: PDE11_HUMAN, Q9HCR9
  • Defects in PDE11A are the cause of primary pigmented nodular adrenocortical disease type 2 (PPNAD2)
    • [MIM:610475]. Primary pigmented nodular adrenocortical disease is a rare bilateral adrenal defect causing
    ACTH-independent Cushing syndrome. PPNAD2 is characterized by adrenal glands with 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. PPNAD2 leads to Cushing syndrome

    17 diseases for PDE11A:    About MalaCards
    adrenocortical hyperplasia    pigmented nodular adrenocortical disease, primary, 2    primary pigmented nodular adrenocortical disease    testicular germ cell tumor
    pigmented adrenocortical disease    carney complex    tumors of adrenal cortex    cushing's syndrome
    germ cell tumor    adrenal hyperplasia    adrenocortical tumor    prostate cancer
    asthma    adenoma    prostatitis    malaria
    neuronitis

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

    4 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: PDE11A (18 documents)

    Export disorders for PDE11A gene to outside databases

    Publications
    for PDE11A gene

    (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)
    About This Section

    PubMed articles for PDE11A gene, integrated from 9 sources (see all 52):
    (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. (2000)
    2. Cloning and characterisation of two splice variants of human phosphodiesterase 11A. (PubMed id 11050148)1, 2, 9 Hetman J.M.... Beavo J.A. (2000)
    3. 3',5'-cyclic nucleotide phosphodiesterase 11A: localization in human tissues. (PubMed id 15800651)1, 2, 9 Loughney K.... Florio V.A. (2005)
    4. 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. (2000)
    5. cAMP is a ligand for the tandem GAF domain of human phosphodiesterase 10 and cGMP for the tandem GAF domain of phosphodiesterase 11. (PubMed id 16330539)1, 2 Gross-Langenhoff M.... Schultz J.E. (2006)
    6. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. (PubMed id 16767104)1, 2 Horvath A.... Stratakis C.A. (2006)
    7. Phosphodiesterase 11 (PDE11): is it a player in human testicular function? (PubMed id 16079899)1, 2 Francis S.H. (2005)
    8. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Genomic organization of the human phosphodiesterase PDE11A gene: evolutionary relatedness with other PDEs containing GAF domains. (PubMed id 11121118)1, 2 Yuasa K.... Omori K. (2001)

    External Searches for PDE11A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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    Genome Databases showing PDE11A gene

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

    Other Databases showing PDE11A gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PDE11A gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PDE11A Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for PDE11A gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    About This Section

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