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DIP2A Gene

protein-coding   GIFtS: 55
GCID: GC21P047878

DIP2 Disco-Interacting Protein 2 Homolog A (Drosophila)

(Previous name: chromosome 21 open reading frame 106)
(Previous symbol: C21orf106)
  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)
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Aliases
DIP2 Disco-Interacting Protein 2 Homolog A (Drosophila)1 2     KIAA01843 5
C21orf1061 2 3     Chromosome 21 Open Reading Frame 1061
DIP22 3 5     Disco-Interacting Protein 2 Homolog A2
DIP2 Homolog A2 3     Disco-Interacting Protein 2A2

External Ids:    HGNC: 172171   Entrez Gene: 231812   Ensembl: ENSG000001603057   OMIM: 6077115   UniProtKB: Q146893   

Export aliases for DIP2A gene to outside databases

Previous GC identifers: GC21P046704 GC21P033258


(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 DIP2A Gene:
The protein encoded by this gene may be involved in axon patterning in the central nervous system. This gene is
not highly expressed. Several transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Mar 2009)

GeneCards Summary for DIP2A Gene:
DIP2A (DIP2 disco-interacting protein 2 homolog A (Drosophila)) is a protein-coding gene. Diseases associated with DIP2A include dyslexia, and down syndrome. GO annotations related to this gene include transcription factor binding. An important paralog of this gene is DIP2C.

UniProtKB/Swiss-Prot: DIP2A_HUMAN, Q14689
Function: May provide positional cues for axon pathfinding and patterning in the central nervous system

Gene Wiki entry for DIP2A 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_000021.9  NT_011512.12  NC_018932.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DIP2A gene promoter:
         AhR   RFX1   Pbx1a   HEN1   CBF-B   CBF-A   ZID   TGIF   Pax-4a   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDIP2A promoter sequence
   Search Chromatin IP Primers for DIP2A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DIP2A


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

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3

DIP2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DIP2A gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21P047878:  view genomic region     (about GC identifiers)

Start:
47,878,812 bp from pter      End:
47,989,926 bp from pter
Size:
111,115 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: DIP2A_HUMAN, Q14689 (See protein sequence)
Recommended Name: Disco-interacting protein 2 homolog A  
Size: 1571 amino acids; 170369 Da
Secondary accessions: A6P4T3 B4E0F0 E7EMA5 Q8IVA3 Q8N4S2 Q8TD89 Q96ML9
Alternative splicing: 6 isoforms:  Q14689-1   Q14689-2   Q14689-3   Q14689-4   Q14689-5   Q14689-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DIP2A: NX_Q14689

Explore proteomics data for DIP2A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys558, Lys1296
  • Modification sites at PhosphoSitePlus

  • See DIP2A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (7 alternative transcripts): 
    NP_001139586.1  NP_001139587.1  NP_001139588.1  NP_055966.2  NP_996772.1  NP_996773.1  NP_996774.1  

    ENSEMBL proteins: 
     ENSP00000383133   ENSP00000393434   ENSP00000430249   ENSP00000415089   ENSP00000392066  
     ENSP00000323633   ENSP00000400528  

    DIP2A Human Recombinant Protein Products:

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    Novus Biologicals DIP2A Lysate
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    Cloud-Clone Corp. Proteins for DIP2A

    DIP2A Antibody Products:

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    Cloud-Clone Corp. CLIAs for DIP2A


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR010506 DMAP1-bd
     IPR000873 AMP-dep_Synth/Lig

    Graphical View of Domain Structure for InterPro Entry Q14689

    ProtoNet protein and cluster: Q14689

    2 Blocks protein domains:
    IPB000873 AMP-binding signature
    IPB010506 DMAP1-binding


    UniProtKB/Swiss-Prot: DIP2A_HUMAN, Q14689
    Similarity: Belongs to the DIP2 family


    DIP2A 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: DIP2A_HUMAN, Q14689
    Function: May provide positional cues for axon pathfinding and patterning in the central nervous system

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity IEA--
    GO:0005515protein binding IPI--
    GO:0008134transcription factor binding IEA--
         
    DIP2A for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Dip2a (no phenotypes)

    DIP2A for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DIP2A
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DIP2A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DIP2A

    miRNA
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    miRTarBase miRNAs that target DIP2A:
    hsa-mir-335-5p (MIRT019073), hsa-mir-484 (MIRT042103), hsa-mir-125a-5p (MIRT045761), hsa-mir-423-5p (MIRT038019)

    Block miRNA regulation of human, mouse, rat DIP2A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DIP2A (see all 68):
    hsa-miR-640 hsa-miR-607 hsa-miR-106a hsa-miR-519a hsa-miR-550a* hsa-miR-93 hsa-miR-376a* hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidDIP2A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DIP2A

    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIP2A


    (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 UniProtKB/Swiss-Prot
    DIP2A_HUMAN, Q14689: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    plasma membrane3
    cytosol1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0009986cell surface IDA--

    DIP2A 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DIP2A
    Interactions:

        Search GeneGlobe Interaction Network for DIP2A

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

    Selected Interacting proteins for DIP2A (Q146891, 2, 3 ENSP000003920664) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FSTP198831, 2, 3, ENSP000002567594EBI-2564275,EBI-1571188 MINT-7991054 MINT-7990792 I2D: score=1 STRING: ENSP00000256759
    FSTL1Q128411, 2, 3, ENSP000002956334EBI-2564275,EBI-2349801 MINT-7990639 MINT-7990744 MINT-7990758 MINT-7991032 I2D: score=1 STRING: ENSP00000295633
    TGFB1P011371, 2, 3, ENSP000002219304EBI-2564275,EBI-779636 MINT-7990981 MINT-7991013 I2D: score=1 STRING: ENSP00000221930
    BMP2P126432, 3, ENSP000003681044MINT-7991072 I2D: score=1 STRING: ENSP00000368104
    CD14P085712, 3, ENSP000003042364MINT-7991045 I2D: score=1 STRING: ENSP00000304236
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006309apoptotic DNA fragmentation IMP--
    GO:0007275multicellular organismal development IEA--
    GO:0008152metabolic process ----
    GO:0010629negative regulation of gene expression IDA--

    DIP2A 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 

    Browse Tocris compounds for DIP2A



    (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 DIP2A gene (7 alternative transcripts): 
    NM_001146114.1  NM_001146115.1  NM_001146116.1  NM_015151.3  NM_206889.2  NM_206890.2  NM_206891.2  

    Unigene Cluster for DIP2A:

    DIP2 disco-interacting protein 2 homolog A (Drosophila)
    Hs.189585  [show with all ESTs]
    Unigene Representative Sequence: NM_015151
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000400274 ENST00000457905(uc002zjn.3) ENST00000466639(uc010gql.3)
    ENST00000435722(uc002zjm.3) ENST00000417564 ENST00000473752 ENST00000494435
    ENST00000480553(uc002zjq.3) ENST00000472364(uc002zjr.3) ENST00000481883
    ENST00000478105(uc002zjs.2) ENST00000479654 ENST00000318711(uc002zjp.1 uc002zjl.3 uc002zjo.2 uc011afz.1 uc002zjt.2)
    ENST00000427143(uc011afy.1)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate DIP2A (see all 68):
    hsa-miR-640 hsa-miR-607 hsa-miR-106a hsa-miR-519a hsa-miR-550a* hsa-miR-93 hsa-miR-376a* hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidDIP2A 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for DIP2A
    Predesigned siRNA for gene silencing in human, mouse, rat DIP2A
    Clone
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    OriGene clones in human, mouse for DIP2A (see all 38)
    OriGene ORF clones in mouse, rat for DIP2A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 7): DIP2A (NM_015151)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DIP2A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DIP2A
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for DIP2A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DIP2A
      QuantiTect SYBR Green Assays in human, mouse, rat DIP2A
      QuantiFast Probe-based Assays in human, mouse, rat DIP2A

    Additional mRNA sequence: 

    AB273729.1 AF432263.1 AF490768.1 AK054807.1 AK056738.1 AK098236.1 AK303351.1 BC033718.1 
    BC038443.1 BC039427.1 BC046176.1 

    14 DOTS entries:

    DT.95266550  DT.99932775  DT.102823913  DT.92452596  DT.100764355  DT.40126430  DT.91725264  DT.100764353 
    DT.95094434  DT.95266544  DT.100741369  DT.40270424  DT.40288602  DT.95266552 

    Selected AceView cDNA sequences (see all 135):

    AI215924 AL137672 AL603005 BX510061 AA564378 NM_206890 AI910398 BF001780 
    AK124731 CD106954 NM_206891 BC038443 BF000401 BM920286 AW238542 BM697484 
    BU682928 AI820837 CN483102 BC046176 BE674499 AA904352 CA396604 BX103241 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DIP2A (see all 11)    About this scheme

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

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

    ExUns: 36b · 36c ^ 37 ^ 38 ^ 39a · 39b
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for DIP2A

    (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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    DIP2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGTTGGACT
    DIP2A Expression
    About this image


    DIP2A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
     
     Blood (Cardiovascular System)
             Double Positive Thymocytes Thymus
     
     Neural Tube (Nervous System)
             Primitive Spinal Cord
    DIP2A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DIP2A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.189585

    UniProtKB/Swiss-Prot: DIP2A_HUMAN, Q14689
    Tissue specificity: Low expression in all tissues tested

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIP2A

    (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 and fungi.

    Orthologs for DIP2A gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dip2a1 , 5 DIP2 disco-interacting protein 2 homolog A (Drosophila)1, 5 87(n)1
    93.41(a)1
      10 (38.76 cM)5
    644511  NM_001081419.21  NP_001074888.21 
     762594295 
    chicken
    (Gallus gallus)
    Aves DIP2A1 DIP2 disco-interacting protein 2 homolog A (Drosophila) 77.74(n)
    89.33(a)
      771400  XM_001234675.3  XP_001234676.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.88672 Xenopus laevis transcribed sequence with weak similarity more 77.66(n)    AW159748.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dip2a1 DIP2 disco-interacting protein 2 homolog A 75.28(n)
    83.89(a)
      100332244  XM_002663292.3  XP_002663338.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta DIP26
    DISCO Interacting Protein 2
    51(a)
    1 → many
    3L(250229-257954)
    worm
    (Caenorhabditis elegans)
    Secernentea F28B3.16
    Protein F28B3.1 (F28B3.1) mRNA, complete cds
    50(a)
    1 → many
    I(4942069-4949334) WBGene00017882
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes --
    Putative protein of unknown function; deletion cau...
    19(a)
    1 → many
    XV(497506-502452) YOR093C


    ENSEMBL Gene Tree for DIP2A (if available)
    TreeFam Gene Tree for DIP2A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DIP2A gene
    DIP2C2  DIP2B2  
    4 SIMAP similar genes for DIP2A using alignment to 2 protein entries:     DIP2A_HUMAN (see all proteins):
    DKFZp434G0572    DIP2B    DIP2C    DKFZp686M1483

    DIP2A for paralogs           About GeneDecksing



    (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)
    About This Section

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    Selected SNPs for DIP2A (see all 2682)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1995930381,2
    --33263507(+) ATATA-/TTTTTGT 7 -- int10--------
    rs113226661,2
    C--33274930(+) CACTT-/AACACT 7 -- int11Minor allele frequency- A:0.00NA 2
    rs752743401,2
    C--33292815(+) GGAAG-/AAAAAA 7 -- int10--------
    rs113158691,2
    C,F--33297002(+) GTGGC-/TTTTTT 7 -- int13Minor allele frequency- T:0.33NA CSA 6
    rs1415076751,2
    C--33305946(+) CAATA-/CCTAGA 7 -- int10--------
    rs1996402111,2
    C--33307545(+) TTTCTG/TTTCTT 7 -- int10--------
    rs345102081,2
    C--33312956(+) TTTTT-/C/TCCTGT 7 -- int11NA 2
    rs2010425411,2
    C--33314277(+) ATCTC-/AAAAAA 7 -- int10--------
    rs588795701,2
    C--33325753(+) TTATT-/ATTATT/A
    TTATTATTATT
    TTGAG
    21 -- int1 cds11NA 2
    rs81348221,2
    C,A--38368415(+) aagccC/Tgggca 7 -- us2k10--------

    HapMap Linkage Disequilibrium report for DIP2A (47878812 - 47989926 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DIP2A (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3548CNV Insertion18451855
    nsv523038CNV Loss19592680
    nsv914148CNV Loss21882294
    nsv914147CNV Loss21882294
    nsv519904CNV Loss19592680
    nsv526768CNV Loss19592680
    nsv459313CNV Loss19166990
    dgv4817n71CNV Loss21882294
    nsv470910CNV Gain18288195
    nsv459312CNV Gain19166990

    Human Gene Mutation Database (HGMD): DIP2A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DIP2A
    DNA2.0 Custom Variant and Variant Library Synthesis for DIP2A

    (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: 607711    OMIM disorders: --

    7 diseases for DIP2A:    
    About MalaCards
    dyslexia    down syndrome    labyrinthitis    atherosclerosis
    tuberculosis    prostate cancer    prostatitis

    1 disease from the University of Copenhagen DISEASES database for DIP2A:
    Dyslexia

    DIP2A for disorders           About GeneDecksing

    Genetic Association Database (GAD): DIP2A

    Export disorders for DIP2A 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 DIP2A gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with DIP2A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis. (PubMed id 12036298)1, 2 Gardiner K.... Davisson M. (Genomics 2002)
    4. Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 8724849)1, 2 Nagase T.... Nomura N. (DNA Res. 1996)
    5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    6. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (Nat. Methods 2013)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    9. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    10. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)

    (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: 23181 HGNC: 17217 AceView: C21orf106 Ensembl:ENSG00000160305 euGenes: HUgn23181
    ECgene: DIP2A H-InvDB: DIP2A

    (According to HUGE)
    About This Section

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    HUGE: KIAA0184

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for DIP2A Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for DIP2A gene:
    Search GeneIP for patents involving DIP2A

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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