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PDE8B Gene

protein-coding   GIFtS: 67
GCID: GC05P076542

Phosphodiesterase 8B

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(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 8B1 2     High Affinity CAMP-Specific And IBMX-Insensitive 3',5'-Cyclic
Phosphodiesterase 8B2
Cell Proliferation-Inducing Gene 22 Protein2 3     hsPDE8B2
ADSD2 5     EC 3.1.4.533
PPNAD32 5     HsPDE8B3
3',5' Cyclic Nucleotide Phosphodiesterase 8B2     EC 3.1.4.178

External Ids:    HGNC: 87941   Entrez Gene: 86222   Ensembl: ENSG000001132317   OMIM: 6033905   UniProtKB: O952633   

Export aliases for PDE8B gene to outside databases

Previous GC identifers: GC05P075312 GC05P076741 GC05P076545 GC05P076590 GC05P071714


(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 PDE8B Gene:
The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of
the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resistant to several PDE
inhibitors. Defects in this gene are a cause of autosomal dominant striatal degeneration (ADSD). Several
transcript variants encoding different isoforms have been found for this gene.(provided by RefSeq, Jul 2010)

GeneCards Summary for PDE8B Gene:
PDE8B (phosphodiesterase 8B) is a protein-coding gene. Diseases associated with PDE8B include striatal degeneration, autosomal dominant, and primary pigmented nodular adrenocortical disease. GO annotations related to this gene include phosphorelay response regulator activity and 3',5'-cyclic-nucleotide phosphodiesterase activity. An important paralog of this gene is PDE4D.

UniProtKB/Swiss-Prot: PDE8B_HUMAN, O95263
Function: Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological
processes. May be involved in specific signaling in the thyroid gland

summary for PDE8B 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 PDE8B 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:
NC_000005.10  NT_034772.7  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PDE8B gene promoter:
         C/EBPbeta   FOXF2   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPDE8B promoter sequence
   Search Chromatin IP Primers for PDE8B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PDE8B


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

Entrez Gene cytogenetic band: 5q13.3   Ensembl cytogenetic band:  5q13.3   HGNC cytogenetic band: 5q14.1

PDE8B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDE8B gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P076542:  view genomic region     (about GC identifiers)

Start:
76,506,274 bp from pter      End:
76,725,632 bp from pter
Size:
219,359 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PDE8B_HUMAN, O95263 (See protein sequence)
Recommended Name: High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B  
Size: 885 amino acids; 98979 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: Q5J7V7 Q86XK8 Q8IUJ7 Q8IUJ8 Q8IUJ9 Q8IUK0 Q8N3T2
Alternative splicing: 6 isoforms:  O95263-1   O95263-2   O95263-3   O95263-4   O95263-5   O95263-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PDE8B: NX_O95263

Explore proteomics data for PDE8B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for PDE8B (O95263)
     HDVDHPG  IDMVLAT 


    See PDE8B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001025022.1  NP_001025023.1  NP_001025024.1  NP_001025025.1  NP_003710.1  

    ENSEMBL proteins: 
     ENSP00000425720   ENSP00000345446   ENSP00000330428   ENSP00000264917   ENSP00000345646  
     ENSP00000331336   ENSP00000426200   ENSP00000422861   ENSP00000423461  
    Reactome Protein details: O95263

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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: PDE8B
    Phosphodiesterases, 3',5'-cyclic nucleotide

    Selected InterPro protein domains (see all 7):
     IPR002073 PDEase_catalytic_dom
     IPR000014 PAS
     IPR013938 PDEase_PDE8
     IPR023174 PDEase_CS
     IPR023088 PDEase

    Graphical View of Domain Structure for InterPro Entry O95263

    ProtoNet protein and cluster: O95263

    3 Blocks protein domains:
    IPB000014 PAS domain
    IPB013767 PAS fold
    IPB013938 3'5'-cyclic nucleotide phosphodiesterase PDE8


    UniProtKB/Swiss-Prot: PDE8B_HUMAN, O95263
    Domain: Composed of a C-terminal catalytic domain containing two putative divalent metal sites and an N-terminal
    regulatory domain
    Similarity: Belongs to the cyclic nucleotide phosphodiesterase family. PDE8 subfamily
    Similarity: Contains 1 PAS (PER-ARNT-SIM) domain


    PDE8B for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PDE8B_HUMAN, O95263
    Function: Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological
    processes. May be involved in specific signaling in the thyroid gland
    Catalytic activity: Adenosine 3',5'-cyclic phosphate + H(2)O = adenosine 5'-phosphate
    Enzyme regulation: Inhibited by dipyridimole. Insensitive to selective PDE inhibitors including rolipram and
    milrinone as well as to the non-selective inhibitor, IBMX. Unaffected by cGMP

         Enzyme Numbers (IUBMB): EC 3.1.4.172 EC 3.1.4.531

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000156phosphorelay response regulator activity IEA--
    GO:0003824catalytic activity ----
    GO:00041143',5'-cyclic-nucleotide phosphodiesterase activity NAS9784418
    GO:0004871signal transducer activity ----
    GO:0005515protein binding ----
         
    PDE8B for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pde8b):
     homeostasis/metabolism  renal/urinary system 

    PDE8B for phenotypes           About GeneDecksing

    Animal Models:
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    hsa-mir-335-5p (MIRT018136)

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    Selected qRT-PCR Assays for microRNAs that regulate PDE8B (see all 28):
    hsa-miR-495 hsa-miR-520d-5p hsa-miR-1263 hsa-miR-513a-5p hsa-miR-1271 hsa-miR-128 hsa-miR-218 hsa-miR-103a
    SwitchGear 3'UTR luciferase reporter plasmidPDE8B 3' UTR sequence
    Inhib. RNA
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    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    cytoskeleton1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    PDE8B for ontologies           About GeneDecksing


    (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 PDE8B About    
    See pathways by source

    SuperPathContained pathways About
    1Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    2Circadian entrainment
    Morphine addiction0.53
    3G Protein Signaling Pathways
    G Protein Signaling Pathways0.44
    4Purine metabolism (KEGG)
    Purine metabolism0.38
    5G alpha (s) signalling events
    G alpha (s) signalling events

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for PDE8B
        G Protein Signaling Pathways

    1 Reactome Pathway for PDE8B
        G alpha (s) signalling events


    2 Kegg Pathways  (Kegg details for PDE8B):
        Purine metabolism
    Morphine addiction

    UniProtKB/Swiss-Prot: PDE8B_HUMAN, O95263
    Pathway: Purine metabolism; 3',5'-cyclic AMP degradation; AMP from 3',5'-cyclic AMP: step 1/1


    PDE8B for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PDE8B
    Interactions:

        GeneGlobe Interaction Network for PDE8B

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

    Selected Interacting proteins for PDE8B (ENSP000002649174) via UniProtKB, MINT, STRING, and/or I2D (see all 34)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    GNASENSP000003601414STRING: ENSP00000360141
    GNAZENSP000002489964STRING: ENSP00000248996
    ANAPC10ENSP000003100714STRING: ENSP00000310071
    GTF2E1ENSP000002838754STRING: ENSP00000283875
    NF1ENSP000003510154STRING: ENSP00000351015
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000160phosphorelay signal transduction system ----
    GO:0006198cAMP catabolic process IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0007165signal transduction ----
    GO:0009187cyclic nucleotide metabolic process NAS9784418

    PDE8B for ontologies           About GeneDecksing



    (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 PDE8B 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]

    5 HMDB Compounds for PDE8B    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--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 DrugBank Compound for PDE8B    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    KetotifenKetotifen Fumarate (see all 5)34580-14-8targetinhibitor1702263

    1 IUPHAR Ligand for PDE8B (PDE8B)    About this table
    LigandTypeActionAffinityPubmed IDs
    dipyridamole
    InhibitorInhibition4.39784418

    2 Novoseek inferred chemical compound relationships for PDE8B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dipyridamole 51.2 1 9784418 (1)
    cgmp 36.3 2 9784418 (1)



    PDE8B for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PDE8B gene (5 alternative transcripts): 
    NM_001029851.2  NM_001029852.2  NM_001029853.2  NM_001029854.2  NM_003719.3  

    Unigene Cluster for PDE8B:

    Phosphodiesterase 8B
    Hs.584830  [show with all ESTs]
    Unigene Representative Sequence: NM_003719
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000505926 ENST00000340978 ENST00000346042 ENST00000264917(uc003kfa.3 uc003kfb.3 uc003kfc.3 uc003kfd.3 uc003kfe.3)
    ENST00000342343 ENST00000333194 ENST00000502945 ENST00000503963 ENST00000505283


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    hsa-miR-495 hsa-miR-520d-5p hsa-miR-1263 hsa-miR-513a-5p hsa-miR-1271 hsa-miR-128 hsa-miR-218 hsa-miR-103a
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    Additional mRNA sequence: 

    AB085824.1 AB085825.1 AB085826.1 AB085827.1 AF079529.2 AK002074.1 AK023913.1 AL831924.1 
    AY129948.1 AY129949.1 AY423729.1 BC035144.1 BC043209.2 BC047627.1 

    15 DOTS entries:

    DT.100777747  DT.113855  DT.40210111  DT.100027276  DT.120884499  DT.100777748  DT.91809565  DT.95268672 
    DT.95251467  DT.85102318  DT.95268673  DT.95351255  DT.120884506  DT.120884515  DT.40217348 

    Selected AceView cDNA sequences (see all 120):

    BU071384 AI279095 AA348672 AI299964 BU786921 AA233993 CK825436 AU141620 
    BM505631 CF994628 BU787669 BU786861 BU781796 BE140794 AA669493 AA862306 
    AI381656 BU731978 AB085826 BF109581 AI272300 BM708128 BF108895 AA280111 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PDE8B (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23
    SP1:                                                                                                                                                      
    SP2:                                                                                                  -                                                   
    SP3:                          -                                                                                                                           
    SP4:                                                              -     -     -                                                                           
    SP5:        -     -                                                                                                                                       


    ECgene alternative splicing isoforms for PDE8B

    (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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    PDE8B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAAAGAAATG
    PDE8B Expression
    About this image


    PDE8B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Membranous Facial Bones
             HyStem+BMP4-induced SK11 cells
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Kidney (Urinary System)
             Metanephros
     
     Cartilage (Muscoskeletal System)
             HyStem+BMP4-induced SK11 cells
    PDE8B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PDE8B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.584830

    UniProtKB/Swiss-Prot: PDE8B_HUMAN, O95263
    Tissue specificity: Abundantly expressed in the thyroid. Also very weakly expressed in brain, spinal cord and
    placenta. In the thyroid isoform 1 predominates, and isoforms 2 and 6 are also highly expressed. In the placenta
    isoforms 1 and 2 are expressed equally. In the brain isoform 2 predominates

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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 PDE8B gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pde8b1 , 5 phosphodiesterase 8B1, 5 90.21(n)1
    97.38(a)1
      13 (49.22 cM)5
    2184611  NM_172263.21  NP_758467.21 
     950244545 
    chicken
    (Gallus gallus)
    Aves PDE8B1 phosphodiesterase 8B 79.68(n)
    85.08(a)
      427645  XM_425218.4  XP_425218.4 
    lizard
    (Anolis carolinensis)
    Reptilia PDE8B6
    phosphodiesterase 8B
    85(a)
    1 ↔ 1
    2(13947879-14014708)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pde8b1 phosphodiesterase 8B 76.91(n)
    84.4(a)
      100490787  XM_002940874.2  XP_002940920.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.112952 Transcribed sequence with weak similarity to protein more 74.88(n)    BG307503.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG54113
    Pde81
    cAMP-specific phosphodiesterase3
    Phosphodiesterase 81
    49(a)3
    50.54(n)1
    43.6(a)1
      377411  NM_001169803.21  NP_001163274.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y95B8A.103 phosphodiesterase 39(a)   I(873483-882715)   --


    ENSEMBL Gene Tree for PDE8B (if available)
    TreeFam Gene Tree for PDE8B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PDE8B gene
    PDE4D2  PDE4B2  PDE4C2  PDE7B2  PDE1B2  PDE1A2  PDE9A2  PDE1C2  
    PDE7A2  PDE8A2  PDE4A2  
    9 SIMAP similar genes for PDE8B using alignment to 6 protein entries:     PDE8B_HUMAN (see all proteins):
    PDE8A    PDE4A    PDE4    PDE4D    PDE4C    PDE1A
    PDE3B    PDE1B    PDE9A

    PDE8B for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PDE8B
    PGOHUM00000246779


    (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 PDE8B (see all 4151)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0665034
    Primary pigmented nodular adrenocortical disease 3 (PPNAD3)4--see VAR_0665032 H P mis40--------
    rs1493334781,2
    --71711189(+) TTCCCA/GGGTCC 5 -- us2k10--------
    rs1114804201,2
    C--71714742(+) TTTTTT/-AACAG 5 -- int11Minor allele frequency- -:0.50CSA 2
    rs1456436331,2
    C--71719460(+) TTTTT-/TATCAC 5 -- int10--------
    rs2016908001,2
    --71748142(+) CCCCC-/CCCCA 
            
    ACTTT
    5 -- int10--------
    rs1999780141,2
    --71748143(+) CCCCC-/CCCAA 
            
    CTTTT
    5 -- int10--------
    rs560544941,2
    C--71750724(+) ATTAGTTT/-TTTTT 5 -- cds11Minor allele frequency- -:0.50CSA 2
    rs2018942201,2
    --71761357(+) CCGCC-/CCTCCCCC 5 -- cds10--------
    rs1737051,2
    C--71761360(-) GGGGGA/GGGGGC 5 -- int1 trp30--------
    rs347443191,2
    C,F--71813417(+) ACCAC-/A/CA  
      CA
    /TAC
    GTCTC
    10 -- int1 cds12NA CSA 4

    HapMap Linkage Disequilibrium report for PDE8B (76506274 - 76725632 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for PDE8B:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2640816CNV Deletion19546169
    esv1478247CNV Insertion17803354
    esv271727CNV Insertion20981092
    nsv4889CNV Insertion18451855
    esv2619324CNV Insertion19546169
    nsv507265CNV Insertion20534489
    esv25490CNV Loss19812545
    esv29763CNV Loss19812545
    nsv469515CNV Loss16826518
    esv5973CNV Gain19470904

    Human Gene Mutation Database (HGMD): PDE8B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PDE8B
    DNA2.0 Custom Variant and Variant Library Synthesis for PDE8B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603390   
    OMIM disorders: 614190  609161  
    UniProtKB/Swiss-Prot: PDE8B_HUMAN, O95263
  • Striatal degeneration autosomal dominant (ADSD) [MIM:609161]: A movement disorder affecting the striatal
    part of the basal ganglia and characterized by bradykinesia, dysarthria and muscle rigidity. These symptoms
    resemble idiopathic Parkinson disease, but tremor is not present. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Primary pigmented nodular adrenocortical disease 3 (PPNAD3) [MIM:614190]: 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

  • 19 diseases for PDE8B:    
    About MalaCards
    striatal degeneration, autosomal dominant    primary pigmented nodular adrenocortical disease    pigmented nodular adrenocortical disease, primary, 3    pigmented nodular adrenocortical disease, primary, 2
    hyperthyroxinemia    carney complex    cushing's syndrome    tremor
    hypothyroidism    labyrinthitis    parkinson's disease    obesity
    thyroiditis    hypertension    alzheimer's disease    multiple myeloma
    myeloma    cerebritis    malaria

    1 disease from the University of Copenhagen DISEASES database for PDE8B:
    Carney complex

    PDE8B for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): PDE8B
    Human Genome Epidemiology (HuGE) Navigator: PDE8B (6 documents)

    Export disorders for PDE8B 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 PDE8B gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with PDE8B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of human PDE8B, a novel thyroid-specific isozyme of 3',5'-cyclic nucleotide phosphodiesterase. (PubMed id 9784418)1, 2, 3, 9 Hayashi M.... Tanaka T. (Biochem. Biophys. Res. Commun. 1998)
    2. A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex. (PubMed id 18431404)1, 2, 9 Horvath A.... Stratakis C.A. (Eur. J. Hum. Genet. 2008)
    3. Genomic organization, chromosomal localization, and alternative splicing of the human phosphodiesterase 8B gene. (PubMed id 12372422)1, 2, 9 Hayashi M.... Tanaka T. (Biochem. Biophys. Res. Commun. 2002)
    4. Abnormalities of cAMP signaling are present in adrenocortical lesions associated with ACTH-independent Cushing syndrome despite the absence of mutations in known genes. (PubMed id 19429701)1, 4, 9 Bimpaki E.I....Stratakis C.A. (Eur. J. Endocrinol. 2009)
    5. Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene. (PubMed id 20085714)1, 2, 9 Appenzeller S.... Kuhlenbaumer G. (Am. J. Hum. Genet. 2010)
    6. Phosphodiesterase 8B gene polymorphism is associated with subclinical hypothyroidism in pregnancy. (PubMed id 19820008)1, 4, 9 Shields B.M....Vaidya B. (J. Clin. Endocrinol. Metab. 2009)
    7. Comparison of enzymatic characterization and gene organization of cyclic nucleotide phosphodiesterase 8 family in humans. (PubMed id 12681444)1, 2, 9 Gamanuma M.... Omori K. (Cell. Signal. 2003)
    8. Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. (PubMed id 22494929)1, 4 Rawal R....Homuth G. (Hum. Mol. Genet. 2012)
    9. Novel associations for hypothyroidism include known autoimmune risk loci. (PubMed id 22493691)1, 4 Eriksson N....Do C.B. (PLoS ONE 2012)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 8622 HGNC: 8794 AceView: PDE8B Ensembl:ENSG00000113231 euGenes: HUgn8622
    ECgene: PDE8B Kegg: 8622 H-InvDB: PDE8B

    (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 PDE8B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PDE8B gene:
    Search GeneIP for patents involving PDE8B

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



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