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

PDE4DIP Gene

protein-coding   GIFtS: 55
GCID: GC01M144836

phosphodiesterase 4D interacting protein

(Previous name: cardiomyopathy associated 2 )
(Previous symbol: CMYA2)
 Explore 10 diseases affiliated with
PDE4DIP via our new
 Human Malady Compendium 
Biological research products
for PDE4DIP
    

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

Aliases
Phosphodiesterase 4D Interacting Protein1 2     Cardiomyopathy-Associated Protein 22 3
CMYA21 2 3     Phosphodiesterase 4D-Interacting Protein2 3
MMGL1 2 3     Cardiomyopathy Associated 21
KIAA04541 3     Myomegalin1
KIAA04771 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:
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)

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)


(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_000001.10  NC_018912.1  NT_167185.1  
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 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: 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, 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5VU43

  • PDE4DIP Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (9 alternative transcripts): 
    NP_001002810.1  NP_001002811.1  NP_001002812.1  NP_001182189.1  NP_001182190.1  NP_001185761.1  NP_001185763.2  NP_055459.4  
    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  

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

    PDE4DIP for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR010630 NBPF_dom
     IPR012943 Spindle_assoc

    Graphical View of Domain Structure for InterPro Entry Q5VU43

    ProtoNet protein and cluster: Q5VU43

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


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


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

    miRNA
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    Inhib. RNA
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17923693
    GO:0019899enzyme binding ISS11134006


    PDE4DIP for ontologies           About GeneDecksing


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


    (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



    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, 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

    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 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 PDE4DIP gene (9 alternative transcripts): 
    NM_001002810.3  NM_001002811.1  NM_001002812.1  NM_001195260.1  NM_001195261.1  NM_001198832.1  NM_001198834.2  NM_014644.4  
    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

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    Inhib. RNA
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    Additional cDNA 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):

    BQ674922 AI821140 CD107052 AB007923 BG109671 AA434604 CA418528 BQ719934 
    BC078660 BG624068 CB143956 BI754116 NM_014644 AA489265 CR612016 AA603761 
    Z40798 CR593177 CB115636 AI123091 CB155787 BQ948265 BM468062 CF552528 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AATAAAGTGG

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

    About this image

    PDE4DIP expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneZeugopod Epiphyseal EndChondrocytesBone, Cartilage
    LimbZeugopodMesenchymal Condensate CellsBone, Cartilage
    PancreasIslets of LangerhansMature Beta CellsPancreas
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage

    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 eukaryotes.

    Orthologs for PDE4DIP gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    46(a)
    1 ↔ 1
    4(73629942-73738594)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005349201 myomegalin-like 49.97(n)
    39.5(a)
      100534920  XM_003200729.1  XP_003200777.1 
    worm
    (Caenorhabditis elegans)
    Secernentea tag-2416
    --
    8(a)
    possible ortholog
    X(11826025-11836077)
    rice
    (Oryza sativa)
    Liliopsida --
    nuclear-pore anchor, putative, expressed
    9(a)
    possible ortholog
    2(31003292-31017324)


    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, 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

    10/4677 NCBI SNPs in PDE4DIP are shown (see all 4677    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2012469001,2
    Cother145015987(+) GGCCTC/TGATCT 9 Q R mis1 int10--------
    rs761996601,2
    C,Fother145075775(+) GTAAGA/G/TCGTGT 7 T P S mis1 int12NA EU 5067
    rs9377051,2
    C,F--144850978(-) ATTTTG/AAAATA 3 -- ds5001 int13Minor allele frequency- A:0.40NA CSA 10
    rs665171321,2
    C,--144851072(+) ACACT-/GTTTTT 3 -- int1 ds50010--------
    rs2017834271,2
    --144851072(+) CACTG-/TTTTTT 3 -- ds5001 int10--------
    rs114215481,2
    C--144851073(+) TTTTT-/TAAACT 3 -- ds5001 int10--------
    rs6006461,2
    F,A,H,--144851114(-) CCCAGG/ATGATT 3 -- int1 ds50014Minor allele frequency- A:0.03NS EA CSA 297
    rs1492290021,2
    --144851174(+) TCCTGC/GGATTG 3 -- int1 ds50010--------
    rs2001892931,2
    --144851188(+) CCAGG-/AGGT  
            
    AGGTA
    3 -- ds5001 int10--------
    rs16985881,2
    C--144851316(-) GAACTC/GTAACT 3 -- ds5001 int10--------

    HapMap Linkage Disequilibrium report for PDE4DIP (144836157 - 145076186 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 38 variations for PDE4DIP
         15/27 CNVs (see all 27): 6780 34695 31652 39008 0685 69888 0387 34696 58332 23199 60883 3310 97496 2324 69883
         11 Indels: 59955 44445 97497 59954 63036 60884 59956 44443 39655 44444 39654

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PDE4DIP for disorders           About GeneDecksing

    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

    10 diseases for PDE4DIP:    About MalaCards
    myeloproliferative disorder    eosinophilia    cardiomyopathy    esophageal squamous cell carcinoma
    squamous cell carcinoma    usher syndrome    esophagitis    ataxia
    carcinoma    schizophrenia

    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 35):
    (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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. 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)
    5. Serum anti-myomegalin antibodies in patients with esophageal squamous cell carcinoma. (PubMed id 17143517)1, 9 Shimada H....Hiwasa T. (2007)
    6. 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)
    7. 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)
    8. Identification of novel germline polymorphisms governi ng capecitabine sensitivity. (PubMed id 22864933)1 O'Donnell P.H....Dolan M.E. (2012)
    9. Intersectin (ITSN) family of scaffolds function as mol ecular hubs in protein interaction networks. (PubMed id 22558309)1 Wong K.A....O'Bryan J.P. (2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    (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: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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