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

DIP2B Gene

protein-coding   GIFtS: 50
GCID: GC12P050898

DIP2 disco-interacting protein 2 homolog B (Drosophila)

 Explore 6 diseases affiliated with
DIP2B via our new
 Human Malady Compendium 
Biological research products
for DIP2B
    

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

Aliases
DIP2 Disco-Interacting Protein 2 Homolog B (Drosophila)1 2
KIAA14631 3 5
FLJ342781
Disco-Interacting Protein 2 Homolog B2
DIP2 Homolog B3

External Ids:    HGNC: 292841   Entrez Gene: 576092   Ensembl: ENSG000000660847   OMIM: 6113795   UniProtKB: Q9P2653   

Export aliases for DIP2B gene to outside databases

Previous GC identifers: GC12U900523 GC12P049187 GC12P047931


(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 DIP2B:
This gene encodes a member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a
binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding
sites. The presence of these sites suggests that the encoded protein may participate in DNA methylation. This gene is
located near a folate-sensitive fragile site, and CGG-repeat expansion in the promoter of this gene which affects
transcription has been detected in individuals containing this fragile site on chromosome 12. (provided by RefSeq, Aug
2011)




(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_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DIP2B gene promoter:
         Oct-B1   oct-B3   oct-B2   NRSF form 1   NRSF form 2   Cdc5   SRY   POU2F1   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDIP2B promoter sequence
   Search SABiosciences Chromatin IP Primers for DIP2B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DIP2B


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

Entrez Gene cytogenetic band: 12q13.12   Ensembl cytogenetic band:  12q13.12   HGNC cytogenetic band: 12q13.12

DIP2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DIP2B gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P050898:  view genomic region     (about GC identifiers)

Start:
50,898,768 bp from pter      End:
51,142,450 bp from pter
Size:
243,683 bases      Orientation:
plus 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: DIP2B_HUMAN, Q9P265 (See protein sequence)
Recommended Name: Disco-interacting protein 2 homolog B  
Size: 1576 amino acids; 171492 Da
Sequence caution: Sequence=AAH75027.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence;
Sequence=BAC03705.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence; Sequence=BAC05025.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=EAW58149.1; Type=Erroneous gene model prediction;
Secondary accessions: Q6B011 Q8N1L5 Q8NB38

Explore the universe of human proteins at neXtProt for DIP2B: NX_Q9P265

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9P265

  • DIP2B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_775873.2  
    ENSEMBL proteins: 
     ENSP00000301180   ENSP00000450181  

    Human Recombinant Protein Products: 
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    Uscn Proteins for DIP2B

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--


    DIP2B 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

    DIP2B for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR010506 DMAP1-bd
     IPR000873 AMP-dep_Synth/Lig

    Graphical View of Domain Structure for InterPro Entry Q9P265

    ProtoNet protein and cluster: Q9P265

    1 Blocks protein family: IPB000873 AMP-binding signature

    UniProtKB/Swiss-Prot: DIP2B_HUMAN, Q9P265
    Similarity: Belongs to the DIP2 family


    (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

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DIP2B
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    hsa-miR-194* hsa-miR-548j hsa-miR-579 hsa-miR-4254 hsa-miR-607 hsa-miR-361-5p hsa-miR-4272 hsa-miR-218-1*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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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:0003824catalytic activity IEA--
    GO:0008134transcription factor binding IEA--


    DIP2B for ontologies           About GeneDecksing


    4 GenomeRNAi human phenotypes for DIP2B:
     G0/1 arrest  Increased G1 DNA content  Increased gamma-H2AX phosphory  Synthetic lethal with c-Myc af 

    Animal Models:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dip2b):
     hematopoietic system  reproductive system 

    DIP2B for phenotypes           About GeneDecksing


    (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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DIP2B

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/35 Interacting proteins for DIP2B (Q9P2653 ENSP000003011804) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    CDC14AQ9UNH53I2D: score=3 
    CPOXP365513I2D: score=3 
    CPSF1Q105703I2D: score=3 
    NOC4LQ9BVI43I2D: score=3 
    About this table

    (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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DIP2B
    Search CenterWatch for drugs/clinical trials and news about DIP2B 

    (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 DIP2B gene (2 alternative transcripts): 
    NM_173602.2  NM_020849.2  

    Unigene Cluster for DIP2B:

    DIP2 disco-interacting protein 2 homolog B (Drosophila)
    Hs.505516  [show with all ESTs]
    Unigene Representative Sequence: NM_173602
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000549620(uc001rwu.3 uc009zls.2) ENST00000301180(uc001rwv.3 uc009zlt.3)
    ENST00000546719 ENST00000552328 ENST00000546732

    miRNA
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    8/109 QIAGEN miScript miRNA Assays for microRNAs that regulate DIP2B (see all 109):
    hsa-miR-194* hsa-miR-548j hsa-miR-579 hsa-miR-4254 hsa-miR-607 hsa-miR-361-5p hsa-miR-4272 hsa-miR-218-1*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Additional cDNA sequence: 

    AB040896.2 AK091597.1 AK097369.1 AK126758.1 BC007671.2 BC030156.2 BC071796.1 BC075027.2 
    BX537905.1 

    9 DOTS entries:

    DT.453171  DT.100748733  DT.40241585  DT.113339  DT.75148856  DT.91707153  DT.91763204  DT.92022520 
    DT.91763201 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for DIP2B    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
    SP1:                                                                                                                                                            
    SP2:                          -                                                                                                                                 

    ExUns: 26 ^ 27 ^ 28 ^ 29a · 29b
    SP1:                              
    SP2:                              


    ECgene alternative splicing isoforms for DIP2B

    (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

    DIP2B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTACTTGTCC

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

    About this image
    See DIP2B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DIP2B

    SOURCE GeneReport for Unigene cluster: Hs.505516

    UniProtKB/Swiss-Prot: DIP2B_HUMAN, Q9P265
    Tissue specificity: Moderately expressed in adult brain, placenta, skeletal muscle, heart, kidney, pancreas, lung,
    spleen and colon. Expression was weaker in adult liver, kidney, spleen, and ovary, and in fetal brain and liver. In
    the brain, it is expressed in the cerebral cortex; the frontal, parietal, occipital and temporal lobes; the
    paracentral gyrus; the pons; the corpus callosum and the hippocampus. Highest expression levels in the brain were
    found in the cerebral cortex and the frontal and parietal lobes

        SABiosciences Custom PCR Arrays for DIP2B
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIP2B

    (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 DIP2B gene from 6/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves DIP2B1 DIP2 disco-interacting protein 2 homolog B (Drosophila) 82.78(n)
    93.74(a)
      426874  XM_424482.3  XP_424482.2 
    lizard
    (Anolis carolinensis)
    Reptilia DIP2B6
    --
    89(a)
    1 ↔ 1
    2(91143152-91210386)
    zebrafish
    (Danio rerio)
    Actinopterygii dip2ba1 DIP2 disco-interacting protein 2 homolog Ba (Drosophila) 72.04(n)
    82.01(a)
      405899  NM_212963.1  NP_998128.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta DIP26
    DISCO Interacting Protein 2
    49(a)
    1 → many
    3L(250229-257954)
    worm
    (Caenorhabditis elegans)
    Secernentea F28B3.16
    --
    51(a)
    1 → many
    I(4942070-4949335)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 3)
    AMP-binding enzyme, putative, expressed
    (see all 3)
    6(a)
    19(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    4(23513519-23522205)
    5(28767303-28769486)


    ENSEMBL Gene Tree for DIP2B (if available)
    TreeFam Gene Tree for DIP2B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DIP2B gene
    DIP2C2  DIP2A2  
    3 SIMAP similar genes for DIP2B using alignment to 3 protein entries:     DIP2B_HUMAN (see all proteins):
    DKFZp686M1483    DIP2C    DIP2A

    DIP2B for paralogs           About GeneDecksing



    (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

    10/3715 NCBI SNPs in DIP2B are shown (see all 3715    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs350367521,2
    C,F--47930374(+) TATTGG/TCTTTT 1 -- us2k12Minor allele frequency- T:0.50NA 4
    rs111694651,2
    --47930744(+) cgcccA/Gccacc 1 -- us2k10--------
    rs111694661,2
    C,A,H,--47930930(+) ccaccA/Tgcctc 1 -- us2k11Minor allele frequency- T:0.25NA 4
    rs796845411,2
    C,F,--47931202(+) AAATGC/TTATGT 1 -- us2k11Minor allele frequency- T:0.05EA 120
    rs619277681,2
    C,F,--47931362(+) GAGGCG/AGTGCG 1 -- us2k16Minor allele frequency- A:0.23NA EA 248
    rs731151561,2
    C,F,--47931915(+) CTGCGC/TTTCCT 1 -- int11Minor allele frequency- T:0.02NA 120
    rs116142121,2
    C,F,H,--47932740(+) AACTCT/CTGATT 1 -- int13Minor allele frequency- C:0.27NA 128
    rs745409991,2
    F,--47933647(+) TCTTAT/GAGATA 1 -- int11Minor allele frequency- G:0.02EA 120
    rs39346901,2
    H--47933658(+) TACTAC/TACTTC 1 -- int14Minor allele frequency- T:0.00NS EA 404
    rs124250851,2
    H--47933689(+) CAATGC/GATGAC 1 -- int10--------

    HapMap Linkage Disequilibrium report for DIP2B (50898768 - 51142450 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for DIP2B
         5 CNVs: 66220 43397 86374 61241 76035
    Human Gene Mutation Database (HGMD): DIP2B

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DIP2B
    DNA2.0 Custom Variant and Variant Library Synthesis for DIP2B

    (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

    DIP2B for disorders           About GeneDecksing

    OMIM gene information: 611379   
    OMIM disorders: 136630  
    6 diseases for DIP2B:    About MalaCards
    corpus callosum    colorectal cancer    cerebritis    tuberculosis
    mycobacterium tuberculosis    colorectal cancer 1

    Human Genome Epidemiology (HuGE) Navigator: DIP2B (1 document)

    Export disorders for DIP2B 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 DIP2B gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with DIP2B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1. (PubMed id 17236128)1, 2 Winnepenninckx B.... Kooy R.F. (2007)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2 Nagase T.... Ohara O. (2000)
    4. A cohesin-RAD21 interactome. (PubMed id 22145905)1 Panigrahi A.K....Pati D. (2012)
    5. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. Comparative proteomic analysis identifies a role for S UMO in protein quality control. (PubMed id 21693764)1 Tatham M.H....Hay R.T. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57609 HGNC: 29284 Ensembl:ENSG00000066084 euGenes: HUgn57609 ECgene: DIP2B
    H-InvDB: DIP2B

    (According to HUGE)
    About This Section
    HUGE: KIAA1463

    (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 DIP2B 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 DIP2B gene:
    Search GeneIP for patents involving DIP2B

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