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DPYSL2 Gene

protein-coding   GIFtS: 69
GCID: GC08P026371

Dihydropyrimidinase-Like 2

  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
Dihydropyrimidinase-Like 21 2     ULIP22 3
CRMP22 3 5     DRP22 5
Unc-33-Like Phosphoprotein 22 3     DHPRP22
CRMP-22 3     Collapsin Response Mediator Protein HCRMP-22
DRP-22 3     Dihydropyrimidinase-Related Protein 22
N2A32 3     Collapsin Response Mediator Protein 23
ULIP-22 3     

External Ids:    HGNC: 30141   Entrez Gene: 18082   Ensembl: ENSG000000929647   OMIM: 6024635   UniProtKB: Q165553   

Export aliases for DPYSL2 gene to outside databases

Previous GC identifers: GC08P026208 GC08P026792 GC08P026457 GC08P026491 GC08P024980


(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 DPYSL2 Gene:
This gene encodes a member of the collapsin response mediator protein family. Collapsin response mediator proteins
form homo- and hetero-tetramers and facilitate neuron guidance, growth and polarity. The encoded protein promotes
microtubule assembly and is required for Sema3A-mediated growth cone collapse, and also plays a role in synaptic
signaling through interactions with calcium channels. This gene has been implicated in multiple neurological
disorders, and hyperphosphorylation of the encoded protein may play a key role in the development of Alzheimer's
disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
(provided by RefSeq, Sep 2011)

GeneCards Summary for DPYSL2 Gene:
DPYSL2 (dihydropyrimidinase-like 2) is a protein-coding gene. Diseases associated with DPYSL2 include neuronal ceroid lipofuscinosis, and tauopathy. GO annotations related to this gene include protein kinase binding and dihydropyrimidinase activity. An important paralog of this gene is DPYSL3.

UniProtKB/Swiss-Prot: DPYL2_HUMAN, Q16555
Function: Plays a role in neuronal development and polarity, as well as in axon growth and guidance, neuronal
growth cone collapse and cell migration. Necessary for signaling by class 3 semaphorins and subsequent remodeling
of the cytoskeleton. May play a role in endocytosis

Gene Wiki entry for DPYSL2 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_000008.11  NC_018919.2  NT_167187.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DPYSL2 gene promoter:
         TBP   NF-1   HOXA3   HNF-1A   GATA-2   HNF-1   Sox9   aMEF-2   NF-kappaB1   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDPYSL2 promoter sequence
   Search Chromatin IP Primers for DPYSL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DPYSL2


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

Entrez Gene cytogenetic band: 8p22-p21   Ensembl cytogenetic band:  8p21.2   HGNC cytogenetic band: 8p22-p21

DPYSL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DPYSL2 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P026371:  view genomic region     (about GC identifiers)

Start:
26,371,709 bp from pter      End:
26,515,694 bp from pter
Size:
143,986 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DPYL2_HUMAN, Q16555 (See protein sequence)
Recommended Name: Dihydropyrimidinase-related protein 2  
Size: 572 amino acids; 62294 Da
Subunit: Homotetramer, and heterotetramer with CRMP1, DPYSL3, DPYSL4 or DPYSL5. Interacts through its C-terminus
with the C-terminus of CYFIP1/SRA1. Interacts with HTR4. Interacts with CLN6. Interacts with MICALL1
Caution: Lacks most of the conserved residues that are essential for binding the metal cofactor and hence for
dihydropyrimidinase activity. Its enzyme activity is therefore unsure
2 PDB 3D structures from and Proteopedia for DPYSL2:
2GSE (3D)        2VM8 (3D)    
Secondary accessions: A8K5H2 B4DR31 D3DSS7 O00424
Alternative splicing: 2 isoforms:  Q16555-1   Q16555-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DPYSL2: NX_Q16555

Explore proteomics data for DPYSL2 at MOPED

Post-translational modifications: 

  • 3F4, a monoclonal antibody which strongly stains neurofibrillary tangles in Alzheimer disease brains, specifically
    labels DPYSL2 when phosphorylated on Ser-518, Ser-522 and Thr-5091
  • Phosphorylation at Thr-514 by GSK3B abolishes tubulin-binding leading to destabilization of microtubule assembly
    in axons and neurodegeneration (By similarity). Phosphorylation by DYRK2 at Ser-522 is required for subsequent
    phosphorylation by GSK3B1
  • Ubiquitination2 at Lys345, Lys472
  • Modification sites at PhosphoSitePlus

  • See DPYSL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001184222.1  NP_001231533.1  NP_001377.1  

    ENSEMBL proteins: 
     ENSP00000427985   ENSP00000427954   ENSP00000309539   ENSP00000431117  
    Reactome Protein details: Q16555

    DPYSL2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for DPYSL2

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR011778 Hydantoinase/dihydroPyrase
     IPR006680 Amidohydro_1
     IPR011059 Metal-dep_hydrolase_composite

    Graphical View of Domain Structure for InterPro Entry Q16555

    ProtoNet protein and cluster: Q16555

    2 Blocks protein domains:
    IPB005847 Dihydroorotase region
    IPB011550 Amidohydrolase-like


    UniProtKB/Swiss-Prot: DPYL2_HUMAN, Q16555
    Similarity: Belongs to the DHOase family. Hydantoinase/dihydropyrimidinase subfamily


    DPYSL2 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: DPYL2_HUMAN, Q16555
    Function: Plays a role in neuronal development and polarity, as well as in axon growth and guidance, neuronal
    growth cone collapse and cell migration. Necessary for signaling by class 3 semaphorins and subsequent remodeling
    of the cytoskeleton. May play a role in endocytosis

         Genatlas biochemistry entry for DPYSL2:
    dihydropyrimidinase related protein 2,mainly expressed in the fetal and neonatal brain,involved in the
    developmental process of the nervous system

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004157dihydropyrimidinase activity TAS8973361
    GO:0005515protein binding IPI16260607
    GO:0016787hydrolase activity ----
    GO:0016810hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds ----
    GO:0016812hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides ----
         
    DPYSL2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DPYSL2:
     Increased gamma-H2AX phosphory 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Dpysl2):
     nervous system 

    DPYSL2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DPYSL2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DPYSL2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DPYSL2

    miRNA
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    miRTarBase miRNAs that target DPYSL2:
    hsa-mir-19a-3p (MIRT031306), hsa-mir-17-5p (MIRT050956), hsa-mir-30c-5p (MIRT047866), hsa-mir-320a (MIRT044587), hsa-mir-10a-5p (MIRT047721), hsa-mir-425-5p (MIRT039304)

    Block miRNA regulation of human, mouse, rat DPYSL2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DPYSL2 (see all 100):
    hsa-miR-140-5p hsa-miR-607 hsa-miR-3607-3p hsa-miR-106a hsa-miR-605 hsa-miR-30d hsa-miR-519a hsa-miR-409-5p
    SwitchGear 3'UTR luciferase reporter plasmidDPYSL2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DPYSL2

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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DPYSL2


    (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
    DPYL2_HUMAN, Q16555: Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Membrane. Note=Tightly but non-covalently
    associated with membranes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    cytoskeleton2
    mitochondrion2
    nucleus2
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--
    GO:0005874colocalizes with microtubule IDA--
    GO:0016020colocalizes with membrane IDA--

    DPYSL2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DPYSL2 About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Development Slit Robo signaling
    Development Slit Robo signaling0.92
    Neurophysiological process Receptor mediated axon growth repulsion0.41
    Cytoskeleton remodeling Slit Robo signaling0.92
    2L1CAM interactions
    Axon guidance0.63
    L1CAM interactions0.36
    Developmental Biology0.63
    3Semaphorin interactions
    Semaphorin interactions0.43
    CRMPs in Sema3A signaling0.00
    4Endocytic Trafficking of EGFR
    Recycling pathway of L10.33
    5Regulation of Microtubule Cytoskeleton
    Regulation of Microtubule Cytoskeleton

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Cell Signaling Technology (CST) Pathways for DPYSL2
        Neuroscience
    Cytoskeletal Signaling
    PI3K / Akt Signaling

    2 GeneGo (Thomson Reuters) Pathways for DPYSL2
        Neurophysiological process Receptor-mediated axon growth repulsion
    Development Slit-Robo signaling

    2 BioSystems Pathways for DPYSL2
        BDNF signaling pathway
    Regulation of Microtubule Cytoskeleton

    2 Reactome Pathways for DPYSL2
        Recycling pathway of L1
    CRMPs in Sema3A signaling


    1 Kegg Pathway  (Kegg details for DPYSL2):
        Axon guidance


    DPYSL2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DPYSL2
    Interactions:

        GeneGlobe Interaction Network for DPYSL2

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

    Selected Interacting proteins for DPYSL2 (Q165552, 3 ENSP000003095394) via UniProtKB, MINT, STRING, and/or I2D (see all 63)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000183311P074373I2D: score=1 
    ENSG00000224156P074373I2D: score=1 
    ENSG00000227739P074373I2D: score=1 
    ENSG00000229684P074373I2D: score=1 
    ENSG00000232421P074373I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001975response to amphetamine IEA--
    GO:0006139nucleobase-containing compound metabolic process TAS8973361
    GO:0006208pyrimidine nucleobase catabolic process IEA--
    GO:0006897endocytosis IMP--
    GO:0007010cytoskeleton organization ISS--

    DPYSL2 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 DPYSL2 (DPYL2)

    1 HMDB Compound for DPYSL2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Ureidopropionic acid3-Ureido-propionate (see all 20)462-88-4--

    5 Novoseek inferred chemical compound relationships for DPYSL2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glyceraldehyde 3-phosphate 55.5 8 17522440 (1), 17521179 (1), 18647502 (1), 17907270 (1) (see all 7)
    glycogen 49 7 15652488 (1), 16190365 (1), 16343426 (1), 15483118 (1) (see all 7)
    glutamate 25.1 2 18647502 (1), 16009011 (1)
    creatinine 7.63 2 17018872 (1), 17683050 (1)
    phosphatidylinositol 1.25 2 17185510 (1), 15207709 (1)



    DPYSL2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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 DPYSL2 gene (3 alternative transcripts): 
    NM_001197293.2  NM_001244604.1  NM_001386.5  

    Unigene Cluster for DPYSL2:

    Dihydropyrimidinase-like 2
    Hs.593187  [show with all ESTs]
    Unigene Representative Sequence: NM_001197293
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000521913(uc003xfa.3) ENST00000493789 ENST00000311151(uc011lag.2 uc003xfb.2 uc011lah.2)
    ENST00000523027 ENST00000523690 ENST00000523093 ENST00000521983 ENST00000474808

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    Selected qRT-PCR Assays for microRNAs that regulate DPYSL2 (see all 100):
    hsa-miR-140-5p hsa-miR-607 hsa-miR-3607-3p hsa-miR-106a hsa-miR-605 hsa-miR-30d hsa-miR-519a hsa-miR-409-5p
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      QuantiTect SYBR Green Assays in human, mouse, rat DPYSL2
      QuantiFast Probe-based Assays in human, mouse, rat DPYSL2

    Additional mRNA sequence: 

    AB209195.1 AB370194.1 AB370195.1 AK054747.1 AK092377.1 AK223557.1 AK291287.1 AK299077.1 
    BC056408.1 BC067109.1 BX647115.1 D78013.1 U17279.1 X91250.1 

    Selected DOTS entries (see all 26):

    DT.100893756  DT.91738423  DT.100893789  DT.100031380  DT.97780290  DT.100744572  DT.100893749  DT.100893775 
    DT.95312424  DT.121481977  DT.100893762  DT.91649615  DT.121481887  DT.95312476  DT.99966080  DT.100656878 
    DT.100893765  DT.121481920  DT.121481968  DT.40115800  DT.92454949  DT.95312421  DT.95312496  DT.100040997 

    Selected AceView cDNA sequences (see all 517):

    BE748438 Z44143 AI376141 CA429397 F05613 AV726170 AW504792 AI004685 
    AA487460 T35393 Z38543 F07479 F09305 NM_001386 AA908798 BM786249 
    D38661 BF725718 BQ772893 AL603228 BM729299 AI128832 BF115449 T31558 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DPYSL2 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for DPYSL2

    (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)
    About This Section

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    DPYSL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAACGCCTAA
    DPYSL2 Expression
    About this image


    DPYSL2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    DPYSL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DPYSL2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.593187

    UniProtKB/Swiss-Prot: DPYL2_HUMAN, Q16555
    Tissue specificity: Ubiquitous

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for DPYSL2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dpysl21 , 5 dihydropyrimidinase-like 21, 5 90.67(n)1
    97.71(a)1
      14 (34.60 cM)5
    129341  NM_009955.31  NP_034085.21 
     668028645 
    chicken
    (Gallus gallus)
    Aves DPYSL21 dihydropyrimidinase-like 2 83.09(n)
    94.67(a)
      395155  NM_204494.1  NP_989825.1 
    lizard
    (Anolis carolinensis)
    Reptilia DPYSL26
    dihydropyrimidinase-like 2
    97(a)
    1 ↔ 1
    GL343445.1(507420-555330)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC059982.12   -- 75.33(n)    BC059982.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.296802 Transcribed sequence with moderate similarity to protein more 74.48(n)    57043494 


    ENSEMBL Gene Tree for DPYSL2 (if available)
    TreeFam Gene Tree for DPYSL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DPYSL2 gene
    DPYSL32  CRMP12  DPYSL42  DPYSL52  DPYS2  
    5 SIMAP similar genes for DPYSL2 using alignment to 4 protein entries:     DPYL2_HUMAN (see all proteins):
    CRMP1    DPYSL3    DPYSL5    DPYSL4    DPYS

    DPYSL2 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)
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    Selected SNPs for DPYSL2 (see all 3442)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0363164
    A colorectal cancer sample4--see VAR_0363162 R C mis40--------
    rs98864481,2
    C,F,H--24914544(+) AAATCT/CGTTTC 1 -- us2k120Minor allele frequency- C:0.20NA NS EA WA 2482
    rs569680921,2
    C--24931610(+) CTATC-/T/TATC
            
    ATCTA
    1 -- int10--------
    rs1445352571,2
    C--24931611(+) CTATC-/ATC   
       TATCT
    ATCTA
    1 -- int10--------
    rs775317291,2
    C--24944736(+) GTTTTA/TAAAAA 1 -- int10--------
    rs1115856911,2
    C--24945823(+) CTTGGT/-TTTTT 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs760610131,2
    C--24946388(+) CACAA-/TTTC/TTTCACTTCC/
    TTTCACTTCCATAAGGGTT
    ACAAA
    1 -- int10--------
    rs2001446241,2
    C--24948112(+) AAAAA-/TAATCT 1 -- int10--------
    rs1896063801,2
    --24958540(+) ATATAA/TATTAT 1 -- int10--------
    rs1806996381,2
    --24958555(+) ATATAC/GTATAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for DPYSL2 (26371709 - 26515694 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for DPYSL2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv6130CNV Insertion18451855
    esv988025CNV Insertion20482838
    nsv465626CNV Loss19166990
    dgv7764n71CNV Loss21882294
    nsv824581CNV Gain20364138

    Human Gene Mutation Database (HGMD): DPYSL2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DPYSL2
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602463    OMIM disorders: --

    Selected diseases for DPYSL2 (see all 30):    
    About MalaCards
    neuronal ceroid lipofuscinosis    tauopathy    bipolar i disorder    alzheimer's disease
    traumatic brain injury    brain disease    bipolar disorder    brain injury
    thymoma    temporal lobe epilepsy    major depressive disorder    neurofibromatosis
    schizophrenia    encephalomyelitis    neuronitis    down syndrome
    lateral sclerosis    amyotrophic lateral sclerosis    ischemia    breast and colorectal cancer

    2 diseases from the University of Copenhagen DISEASES database for DPYSL2:
    Alzheimer's disease     Schizophrenia

    DPYSL2 for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for DPYSL2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neurofibrillary tangles 64 3 19519308 (1), 18699782 (1), 15331161 (1)
    senile plaques 57.3 1 18000012 (1)
    alzheimers disease 54.5 12 19519308 (2), 10666674 (2), 18000012 (1), 18699782 (1) (see all 8)
    shock 39.7 9 17522440 (1), 17521179 (1), 17018872 (1), 12354300 (1) (see all 8)
    neurodegeneration 39 3 19519308 (1), 15672539 (1)
    brain diseases 34.6 3 10666674 (2)
    schizophrenia 25 33 15027329 (5), 12679234 (5), 16321170 (5), 15858820 (4) (see all 6)
    bipolar disorder 19.7 3 12951196 (1), 17105906 (1)

    Genetic Association Database (GAD): DPYSL2
    Human Genome Epidemiology (HuGE) Navigator: DPYSL2 (8 documents)

    Export disorders for DPYSL2 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 DPYSL2 gene, integrated from 10 sources (see all 152):
    (articles sorted by number of sources associating them with DPYSL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel gene family defined by human dihydropyrimidinase and three related proteins with differential tissue distribution. (PubMed id 8973361)1, 2, 3, 9 Hamajima N.... Nonaka M. (Gene 1996)
    2. An investigation of the dihydropyrimidinase-like 2 (DPYSL2) gene in schizophrenia: genetic association study and expression analysis. (PubMed id 16321170)1, 4, 9 Zhao X....He L. (Int. J. Neuropsychopharmacol. 2006)
    3. CRMP-2 is involved in kinesin-1-dependent transport of the Sra- 1/WAVE1 complex and axon formation. (PubMed id 16260607)1, 2, 9 Kawano Y.... Kaibuchi K. (Mol. Cell. Biol. 2005)
    4. Neurofibrillary tangle-associated collapsin response mediator protein-2 (CRMP-2) is highly phosphorylated on Thr-509, Ser-518, and Ser-522. (PubMed id 10757975)1, 2, 9 Gu Y.... Ihara Y. (Biochemistry 2000)
    5. Characterization of the human dihydropyrimidinase-related protein 2 (DRP-2) gene. (PubMed id 10574455)1, 2, 9 Kitamura K.... Nonaka M. (DNA Res. 1999)
    6. Collapsin response mediator protein-2 (Crmp2) regulates trafficking by linking endocytic regulatory proteins to dynein motors. (PubMed id 20801876)1, 2 Rahajeng J....Caplan S. (J. Biol. Chem. 2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. A two-stage case-control association study of the dihydropyrimidinase-like 2 gene (DPYSL2) with schizophrenia in Japanese subjects. (PubMed id 20414250)1, 4 Koide T....Ozaki N. (J. Hum. Genet. 2010)
    9. Protein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2. (PubMed id 19235893)1, 2 Benedict J.W....Pearce D.A. (J. Neurosci. Res. 2009)
    10. Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population. (PubMed id 19328558)1, 4 Yosifova A....Nakamura Y. (J Affect Disord 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 1808 HGNC: 3014 AceView: DPYSL2 Ensembl:ENSG00000092964 euGenes: HUgn1808
    ECgene: DPYSL2 Kegg: 1808 H-InvDB: DPYSL2

    (According to HUGE)
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      --

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

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    NameDescription
    PharmGKB entry for DPYSL2 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 DPYSL2 gene:
    Search GeneIP for patents involving DPYSL2

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



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