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

PDE4DIP Gene

protein-coding   GIFtS: 59
GCID: GC01M144836

Phosphodiesterase 4D Interacting Protein

(Previous name: cardiomyopathy associated 2)
(Previous symbol: CMYA2)
  See 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)
About This Section

Aliases
Phosphodiesterase 4D Interacting Protein1 2     Cardiomyopathy Associated 21
CMYA21 2 3     KIAA04543
myomegalin1 2     KIAA04773
Cardiomyopathy-Associated Protein 22 3     Phosphodiesterase 4D-Interacting Protein3
MMGL2 3     

External Ids:    HGNC: 155801   Entrez Gene: 96592   Ensembl: ENSG000001781047   OMIM: 6081175   UniProtKB: Q5VU433   

Export aliases for PDE4DIP gene to outside databases

Previous GC identifers: GC01P144477 GC01M141455 GC01M142582 GC01M142604 GC01M142606 GC01M142189 GC01M143563 GC01M144833 GC01M119142


(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 PDE4DIP Gene:
The protein encoded by this gene serves to anchor phosphodiesterase 4D to the Golgi/centrosome region of the cell.
Defects in this gene may be a cause of myeloproliferative disorder (MBD) associated with eosinophilia. Several
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Aug 2010)

GeneCards Summary for PDE4DIP Gene: 
PDE4DIP (phosphodiesterase 4D interacting protein) is a protein-coding gene. Diseases associated with PDE4DIP include eosinophilia, and usher syndrome. GO annotations related to this gene include protein binding and enzyme binding. An important paralog of this gene is CDK5RAP2.

UniProtKB/Swiss-Prot: MYOME_HUMAN, Q5VU43
Function: May function as an anchor sequestering components of the cAMP-dependent pathway to Golgi and/or
centrosomes (By similarity)

Gene Wiki entry for PDE4DIP (Myomegalin) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_167185.1  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PDE4DIP gene promoter:
         SRF   Max1   NF-1   NF-1/L   Bach2   SRF (504 AA)   SREBP-1b   C/EBPalpha   AREB6   Zic1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): PDE4DIP promoter sequence
   Search SABiosciences Chromatin IP Primers for PDE4DIP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PDE4DIP


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

Entrez Gene cytogenetic band: 1q12   Ensembl cytogenetic band:  1q21.1   HGNC cytogenetic band: 1q21.1

PDE4DIP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDE4DIP gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M144836:  view genomic region     (about GC identifiers)

Start:
144,836,157 bp from pter      End:
145,076,186 bp from pter
Size:
240,030 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MYOME_HUMAN, Q5VU43 (See protein sequence)
Recommended Name: Myomegalin  
Size: 2346 amino acids; 265080 Da
Subunit: Interacts with PDE4D (By similarity)
Subcellular location: Golgi apparatus (By similarity). Cytoplasm, cytoskeleton, microtubule organizing center,
centrosome (By similarity). Cytoplasm. Nucleus
Developmental stage: Expressed in fetal heart
Sequence caution: Sequence=AAH04860.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=BAA32299.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAA32322.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAD91152.1;
Type=Frameshift; Positions=1507; Sequence=CAH18128.1; Type=Miscellaneous discrepancy; Note=Probable cloning
artifact;
Secondary accessions: A2RU15 O75042 O75065 Q2YDC1 Q5VU42 Q5VU44 Q5VU45 Q5VU46 Q5VU47 Q5VU48
Q5VU49 Q68DU2 Q6AZ93 Q6PK88 Q86T40 Q86TB2 Q8N3W0 Q8TAY9 Q9HCP2 Q9HCP3 Q9HCP4 Q9HCP5
Alternative splicing: 11 isoforms:  Q5VU43-1   Q5VU43-2   Q5VU43-3   Q5VU43-4   Q5VU43-6   Q5VU43-7   Q5VU43-8   Q5VU43-9   
Q5VU43-10   Q5VU43-11   Q5VU43-12   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PDE4DIP: NX_Q5VU43

Explore proteomics data for PDE4DIP at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5VU43

  • PDE4DIP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PDE4DIP Protein Expression
    REFSEQ proteins (9 alternative transcripts): 
    NP_001002810.1  NP_001002811.2  NP_001002812.2  NP_001182189.1  NP_001182190.1  NP_001185761.2  NP_001185763.3  NP_055459.5  
    NP_071754.3  

    ENSEMBL proteins: 
     ENSP00000327209   ENSP00000358360   ENSP00000358363   ENSP00000435654   ENSP00000358366  
     ENSP00000436694   ENSP00000432498   ENSP00000431450   ENSP00000431596   ENSP00000358357  
     ENSP00000358355   ENSP00000316434   ENSP00000433392   ENSP00000436791   ENSP00000436751  
     ENSP00000431138   ENSP00000435920   ENSP00000358353   ENSP00000358354   ENSP00000431777  
     ENSP00000435483   ENSP00000437202   ENSP00000433819   ENSP00000435616   ENSP00000432251  
     ENSP00000435743   ENSP00000432562   ENSP00000432732   ENSP00000358351  

    Human Recombinant Protein Products for PDE4DIP: 
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    Novus Biologicals PDE4DIP Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PDE4DIP 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA11374908
    GO:0005737cytoplasm IDA11374908
    GO:0005794Golgi apparatus ISS11134006
    GO:0005813centrosome ISS11134006
    GO:0030016myofibril ISS11134006

    PDE4DIP for ontologies           About GeneDecksing



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    Assay Products for PDE4DIP: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR010630 NBPF_dom
     IPR012943 Spindle_assoc

    Graphical View of Domain Structure for InterPro Entry Q5VU43

    ProtoNet protein and cluster: Q5VU43

    2 Blocks protein domains:
    IPB001854 Ribosomal protein L29
    IPB012943 Spindle associated


    UniProtKB/Swiss-Prot: MYOME_HUMAN, Q5VU43
    Similarity: Contains 1 NBPF domain


    PDE4DIP 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYOME_HUMAN, Q5VU43
    Function: May function as an anchor sequestering components of the cAMP-dependent pathway to Golgi and/or
    centrosomes (By similarity)

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding IPI17923693
    GO:0019899enzyme binding ISS11134006
         
    PDE4DIP for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PDE4DIP:
     Synthetic lethal with Ras  Synthetic lethal with imatinib 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PDE4DIP 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PDE4DIP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PDE4DIP 
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    SwitchGear 3'UTR luciferase reporter plasmids (see all 3): PDE4DIP 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDE4DIP


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PDE4DIP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/32 Interacting proteins for PDE4DIP (Q5VU432, 3 ENSP000003583604) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GFI1BQ5VTD92, 3, ENSP000003447824MINT-2867137 I2D: score=2 STRING: ENSP00000344782
    NEK2P519552, 3, ENSP000003559664MINT-8263731 I2D: score=2 STRING: ENSP00000355966
    SMN1Q166372, 3MINT-8271377 I2D: score=2 
    SMN2Q166372, 3MINT-8271377 I2D: score=2 
    CDKN1AP389362, 3MINT-8252105 I2D: score=2 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0043623cellular protein complex assembly ISS11134006

    PDE4DIP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PDE4DIP (MYOME)

    1 HMDB Compound for PDE4DIP    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--

    Search CenterWatch for drugs/clinical trials and news about PDE4DIP / MYOME

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PDE4DIP gene (9 alternative transcripts): 
    NM_001002810.3  NM_001002811.2  NM_001002812.2  NM_001195260.1  NM_001195261.1  NM_001198832.2  NM_001198834.3  NM_014644.5  
    NM_022359.5  

    Unigene Clusters for PDE4DIP:

    Phosphodiesterase 4D interacting protein
    Hs.584841  [show with all ESTs], Hs.613082  [show with all ESTs], Hs.657490  [show with all ESTs], Hs.731111  [show with all ESTs]
    Unigene Representative Sequences: AL080213, AB042555, AK124487, NM_014644
    18/63 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 63):
    ENST00000469668 ENST00000531417 ENST00000528060 ENST00000525630 ENST00000460027
    ENST00000524688 ENST00000313382(uc001eln.4 uc001elx.4) ENST00000524974(uc001elv.4)
    ENST00000369354 ENST00000369356(uc001elk.2 uc001elw.4 uc021ouh.1)
    ENST00000530740 ENST00000369359 ENST00000464924 ENST00000530062 ENST00000526182
    ENST00000533768 ENST00000534367 ENST00000530130
    miRNA
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    8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate PDE4DIP (see all 18):
    hsa-miR-345 hsa-miR-148b* hsa-miR-362-3p hsa-miR-513c hsa-miR-371-5p hsa-miR-218 hsa-miR-339-5p hsa-miR-373*
    SwitchGear 3'UTR luciferase reporter plasmids (see all 3): PDE4DIP 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB007923.2 AB007946.1 AB042557.1 AF086451.1 AK000835.1 AK001619.1 AK021585.1 AK024906.1 
    AL831815.2 AL832024.2 AL832085.1 AL833273.1 BC004860.2 BC025406.1 BC078660.1 BC132717.1 
    BC152439.1 BX647660.1 CR749273.1 XR_159152.1 XR_171192.1 

    24/79 DOTS entries (see all 79):

    DT.100880361  DT.452896  DT.448155  DT.91665329  DT.91983083  DT.97818813  DT.99950187  DT.100880359 
    DT.95159277  DT.100030547  DT.97819830  DT.100880366  DT.100030544  DT.100009110  DT.101971490  DT.101973646 
    DT.121435992  DT.121460398  DT.100030545  DT.100880360  DT.107988  DT.91781552  DT.95159276  DT.121435399 

    24/400 AceView cDNA sequences (see all 400):

    AA333456 CD365041 CB528730 AI264185 NM_001002811 AA335969 CB528428 BM917065 
    BQ673978 BC004860 AB007946 BQ653363 CD742658 BQ425354 AI821791 AL601222 
    F13113 AI130757 F26249 AI312019 AL544526 AA486407 BG620950 CD368918 

    GeneLoc Exon Structure

    5/16 Alternative Splicing Database (ASD) splice patterns (SP) for PDE4DIP (see all 16)    About this scheme

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

    ExUns: 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31a · 31b ^ 32 ^ 33a · 33b · 33c ^ 34 ^ 35a · 35b ^ 36 ^ 37 ^ 38 ^
    SP1:                                                                          -     -     -     -           -     -     -                 -                     
    SP2:                                                                          -     -     -     -           -     -     -                                       
    SP3:                                                                          -     -     -     -           -     -     -                                       
    SP4:                                                                          -     -     -     -                                                               
    SP5:                                                                          -     -     -     -                                                               

    ExUns: 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47a · 47b ^ 48 ^ 49a · 49b ^ 50a · 50b ^ 51 ^ 52 ^ 53 ^ 54 ^ 55a · 55b
    SP1:                          -                             -           -                                                         
    SP2:                                                        -           -                                               -         
    SP3:                                                        -           -                                                         
    SP4:                                                                                                                              
    SP5:                                                                                                                              


    ECgene alternative splicing isoforms for PDE4DIP

    (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

    PDE4DIP expression in normal human tissues (normalized intensities)      PDE4DIP embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATAAAGTGG
    PDE4DIP Expression
    About this image


    PDE4DIP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/16 selected tissues (see all 16) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
             ganglion/cranial   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Human Skeletal Muscle Myoblast (HSkMM)   
             vastus lateralis   
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Chondrocytes Zeugopod Epiphyseal End
             sensory organ/ear/inner ear   
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Condensate Cells Zeugopod
             limb/hindlimb   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon

    See PDE4DIP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PDE4DIP

    SOURCE GeneReport for Unigene clusters: Hs.584841 Hs.613082 Hs.657490 Hs.731111

    UniProtKB/Swiss-Prot: MYOME_HUMAN, Q5VU43
    Tissue specificity: Highly expressed in heart and skeletal muscle and to a lower extent in brain and placenta

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PDE4DIP gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pde4dip1 , 5 phosphodiesterase 4D interacting protein (myomegalin)1, 5 83.28(n)1
    81.47(a)1
      3 (42.28 cM)5
    836791  NM_001039376.21  NP_001034465.21 
     976898245 
    chicken
    (Gallus gallus)
    Aves LOC4257351 myomegalin-like 59.1(n)
    51.84(a)
      425735  XM_423459.3  XP_423459.3 
    lizard
    (Anolis carolinensis)
    Reptilia PDE4DIP6
    Uncharacterized protein
    44(a)
    1 ↔ 1
    4(73602822-73740293)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005349201 myomegalin-like 49.97(n)
    39.5(a)
      100534920  XM_003200729.1  XP_003200777.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta cnn6
    centrosomin
    13(a)
    1 → many
    2R(9326819-9337980)


    ENSEMBL Gene Tree for PDE4DIP (if available)
    TreeFam Gene Tree for PDE4DIP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PDE4DIP gene
    CDK5RAP22  
    4 SIMAP similar genes for PDE4DIP using alignment to 26 protein entries:     MYOME_HUMAN (see all proteins):
    PFN1    CDK5RAP2    PFN2    DKFZp686M1993

    PDE4DIP for paralogs           About GeneDecksing


    5/22 Pseudogenes.org Pseudogenes for PDE4DIP (see all 22)
    PGOHUM00000243915 PGOHUM00000243918 PGOHUM00000243927 PGOHUM00000244171 PGOHUM00000251076


    (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) 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

    10/5006 SNPs in PDE4DIP are shown (see all 5006)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2012469001,2
    Cuntested1145015987(+) GGCCTC/TGATCT 8 Q R mis10--------
    rs761996601,2
    C,Funtested1145075775(+) GTAAGA/G/TCGTGT 4 P S mis12NA EU 5067
    VAR_0366304
    ----see VAR_0366302 A T mis40--------
    VAR_0512064
    ----see VAR_0512062 E V mis40--------
    VAR_0366294
    ----see VAR_0366292 I T mis40--------
    rs9377051,2
    C,F--144850978(-) ATTTTG/AAAATA 6 -- ds5001 int13Minor allele frequency- A:0.40NA CSA 10
    rs665171321,2
    C--144851072(+) ACACT-/GTTTTT 6 -- ds5001 int10--------
    rs2017834271,2
    C--144851072(+) CACTG-/TTTTTT 6 -- ds5001 int10--------
    rs114215481,2
    C--144851073(+) TTTTT-/TAAACT 6 -- ds5001 int10--------
    rs6006461,2
    C,F,A,H--144851114(-) cccagG/Atgatt 6 -- ds5001 int14Minor allele frequency- A:0.03NS EA CSA 297

    HapMap Linkage Disequilibrium report for PDE4DIP (144836157 - 145076186 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/82 variations for PDE4DIP (see all 82):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2717340CNV Deletion23290073
    esv1963892CNV Deletion18987734
    dgv46e201CNV Deletion23290073
    esv2717285CNV Deletion23290073
    esv2670878CNV Deletion23128226
    esv1010993CNV Deletion20482838
    dgv16n16CNV Deletion17901297
    esv1943257CNV Deletion18987734
    esv1004968CNV Deletion20482838
    esv2124797CNV Deletion18987734


    Human Gene Mutation Database (HGMD): PDE4DIP
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for PDE4DIP

    (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.)
    About This Section
    OMIM gene information: 608117    OMIM disorders: --

    UniProtKB/Swiss-Prot: MYOME_HUMAN, Q5VU43
  • Note=A chromosomal aberration involving PDE4DIP may be the cause of a myeloproliferative disorder (MBD)
    associated with eosinophilia. Translocation t(1;5)(q23;q33) that forms a PDE4DIP-PDGFRB fusion protein

  • 6 diseases for PDE4DIP:    About MalaCards
    eosinophilia    usher syndrome    esophageal squamous cell carcinoma    esophagitis
    squamous cell carcinoma    schizophrenia


    PDE4DIP for disorders           About GeneDecksing

    Genetic Association Database (GAD): PDE4DIP
    Human Genome Epidemiology (HuGE) Navigator: PDE4DIP (1 document)

    Export disorders for PDE4DIP 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)
    About This Section

    PubMed articles for PDE4DIP gene, integrated from 9 sources (see all 42):
    (articles sorted by number of sources associating them with PDE4DIP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PubMed id 9455484)1, 2, 3 Seki N.... Ohara O. (1997)
    2. Isolation of novel heart-specific genes using the BodyMap database. (PubMed id 11374908)1, 2, 9 Soejima H.... Mukai T. (2001)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Myomegalin is a novel protein of the golgi/centrosome that interacts with a cyclic nucleotide phosphodiesterase. (PubMed id 11134006)1, 3 Verde I....Conti M. (2001)
    6. Serum anti-myomegalin antibodies in patients with esophageal squamous cell carcinoma. (PubMed id 17143517)1, 9 Shimada H....Hiwasa T. (2007)
    7. Protein kinase A, Ca2+/calmodulin-dependent kinase II, and calcineurin regulate the intracellular trafficking of myopodin between the Z-disc and the nucleus of cardiac myocytes. (PubMed id 17923693)1, 9 Faul C....Mundel P. (2007)
    8. Cloning of the t(1;5)(q23;q33) in a myeloproliferative disorder associated with eosinophilia: involvement of PDGFRB and response to imatinib. (PubMed id 12907457)2, 9 Wilkinson K.... Aguiar R.C.T. (2003)
    9. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    10. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 9659 HGNC: 15580 AceView: PDE4DIP Ensembl:ENSG00000178104 euGenes: HUgn9659
    ECgene: PDE4DIP H-InvDB: PDE4DIP

    (According to HUGE)
    About This Section
    HUGE: KIAA0477 KIAA0454

    (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 PDE4DIP Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PDE4DIP Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PDE4DIP gene:
    Search GeneIP for patents involving PDE4DIP

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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