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DPY19L2 Gene

protein-coding   GIFtS: 49
GCID: GC12M063952

Dpy-19-Like 2 (C. Elegans)

  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
Dpy-19-Like 2 (C. Elegans)1 2     SPATA342
Spermatogenesis Associated 341 2     Probable C-Mannosyltransferase DPY19L22
Protein Dpy-19 Homolog 22 3     EC 2.4.1.-3
SPGF92 5     Dpy-19-Like Protein 23

External Ids:    HGNC: 194141   Entrez Gene: 2834172   Ensembl: ENSG000001779907   OMIM: 6138935   UniProtKB: Q6NUT23   

Export aliases for DPY19L2 gene to outside databases

Previous GC identifer: GC12M062239


(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 DPY19L2 Gene:
The protein encoded by this gene belongs to the dpy-19 family. It is highly expressed in testis, and is required
for sperm head elongation and acrosome formation during spermatogenesis. Mutations in this gene are associated
with an infertility disorder, spermatogenic failure type 9 (SPGF9). (provided by RefSeq, Dec 2011)

GeneCards Summary for DPY19L2 Gene:
DPY19L2 (dpy-19-like 2 (C. elegans)) is a protein-coding gene. Diseases associated with DPY19L2 include spermatogenic failure 9, and spermatogenic failure 6. GO annotations related to this gene include transferase activity, transferring glycosyl groups. An important paralog of this gene is DPY19L3.

UniProtKB/Swiss-Prot: D19L2_HUMAN, Q6NUT2
Function: Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins
(By similarity). Required during spermatogenesis for sperm head elongation and acrosome formation




(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_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DPY19L2 gene promoter:
         Nkx3-1   Nkx3-1 v4   Nkx3-1 v1   Evi-1   Nkx3-1 v2   POU2F1   FOXO4   POU2F1a   c-Myb   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDPY19L2 promoter sequence
   Search Chromatin IP Primers for DPY19L2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DPY19L2


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

Entrez Gene cytogenetic band: 12q14.2   Ensembl cytogenetic band:  12q14.2   HGNC cytogenetic band: 12q14.2

DPY19L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DPY19L2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M063952:  view genomic region     (about GC identifiers)

Start:
63,952,693 bp from pter      End:
64,062,719 bp from pter
Size:
110,027 bases      Orientation:
minus 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: D19L2_HUMAN, Q6NUT2 (See protein sequence)
Recommended Name: Probable C-mannosyltransferase DPY19L2  
Size: 758 amino acids; 87374 Da
Miscellaneous: It has been suggested that DPY19L2P1 is an inactive pseudogene from which DPY19L2 has evolved by
duplication. However, expressed transcript sequences derived from the DPY19L2P1 locus are known to exist
Sequence caution: Sequence=AAI25216.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAI25217.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A4FVC1 Q3ZCX2 Q6UWG8 Q96LZ9

Explore the universe of human proteins at neXtProt for DPY19L2: NX_Q6NUT2

Explore proteomics data for DPY19L2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DPY19L2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_776173.3  
    ENSEMBL proteins: 
     ENSP00000315988   ENSP00000439794   ENSP00000437474   ENSP00000445878   ENSP00000443126  
     ENSP00000439567   ENSP00000444932  

    DPY19L2 Human Recombinant Protein Products:

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    Novus Biologicals DPY19L2 Protein
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    Cloud-Clone Corp. Proteins for DPY19L2

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    Cloud-Clone Corp. CLIAs for DPY19L2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR018732 Dpy-19

    Graphical View of Domain Structure for InterPro Entry Q6NUT2

    ProtoNet protein and cluster: Q6NUT2

    UniProtKB/Swiss-Prot: D19L2_HUMAN, Q6NUT2
    Similarity: Belongs to the dpy-19 family


    DPY19L2 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: D19L2_HUMAN, Q6NUT2
    Function: Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins
    (By similarity). Required during spermatogenesis for sperm head elongation and acrosome formation

         Enzyme Number (IUBMB): EC 2.4.1.-1

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016757transferase activity, transferring glycosyl groups IEA--
         
    DPY19L2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DPY19L2:
     Increased S DNA content 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dpy19l2):
     endocrine/exocrine gland  reproductive system 

    DPY19L2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dpy19l2tm1Lex for DPY19L2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DPY19L2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DPY19L2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DPY19L2

    miRNA
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    miRTarBase miRNAs that target DPY19L2:
    hsa-mir-335-5p (MIRT017243)

    Block miRNA regulation of human, mouse, rat DPY19L2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DPY19L2 (see all 9):
    hsa-miR-100* hsa-miR-607 hsa-miR-181c hsa-miR-181a hsa-miR-181d hsa-miR-9* hsa-miR-330-3p hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidDPY19L2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DPY19L2

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    GenScript: all cDNA clones in your preferred vector: DPY19L2 (NM_173812)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DPY19L2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DPY19L2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DPY19L2


    (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
    D19L2_HUMAN, Q6NUT2: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    DPY19L2 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 DPY19L2
    Interactions:

        Search GeneGlobe Interaction Network for DPY19L2

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development IEA--
    GO:0007286spermatid development IMP--

    DPY19L2 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 DPY19L2 (D19L2)



    (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 DPY19L2 gene: 
    NM_173812.4  

    Unigene Cluster for DPY19L2:

    Dpy-19-like 2 (C. elegans)
    Hs.533644  [show with all ESTs]
    Unigene Representative Sequence: NM_173812
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000324472(uc010sso.1 uc001srp.1 uc009zqk.1) ENST00000541911
    ENST00000413230 ENST00000439061 ENST00000306389 ENST00000541083 ENST00000536494
    ENST00000538147 ENST00000542209
    miRNA
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    Block miRNA regulation of human, mouse, rat DPY19L2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DPY19L2 (see all 9):
    hsa-miR-100* hsa-miR-607 hsa-miR-181c hsa-miR-181a hsa-miR-181d hsa-miR-9* hsa-miR-330-3p hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidDPY19L2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for DPY19L2
    Predesigned siRNA for gene silencing in human, mouse, rat DPY19L2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DPY19L2
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for DPY19L2
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat DPY19L2
      QuantiTect SYBR Green Assays in human, mouse, rat DPY19L2
      QuantiFast Probe-based Assays in human, mouse, rat DPY19L2

    Additional mRNA sequence: 

    AK057511.1 AK303727.1 AK310102.1 AL833344.1 AY358792.1 BC031225.1 BC068442.1 BC125215.1 
    BC125216.1 

    9 DOTS entries:

    DT.444199  DT.95161953  DT.100736067  DT.91829793  DT.121127125  DT.121127141  DT.121127143  DT.86853914 
    DT.121127151 

    Selected AceView cDNA sequences (see all 82):

    BU569607 N67571 BC031225 AA905735 AA300634 CD557320 AL046049 BM271864 
    CF541174 AK057511 AI243535 AA553359 AA417119 BQ897249 AL695689 AA620753 
    BI463600 AL700512 BF056082 AI890895 AI763161 AI039361 CD358263 BG401625 

    GeneLoc Exon Structure


    (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 Genevestigator, and/or 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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    DPY19L2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCACATTTTA
    DPY19L2 Expression
    About this image

    DPY19L2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DPY19L2 Protein Expression

    Genevestigator expression for DPY19L2

    SOURCE GeneReport for Unigene cluster: Hs.533644

    UniProtKB/Swiss-Prot: D19L2_HUMAN, Q6NUT2
    Tissue specificity: Widely expressed with high expression in testis. Not detectable in ejaculated sperm (at
    protein level)

        Custom PCR Arrays for DPY19L2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DPY19L2

    (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.

    Orthologs for DPY19L2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dpy19l21 , 5 dpy-19-like 2 (C. elegans)1, 5 82.54(n)1
    78.72(a)1
      9 (10.22 cM)5
    3207521  NM_001166207.11  NP_001159679.11 
     245570485 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    54(a)
    1 → many
    2(47875372-47923403)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    53(a)
    1 → many
    6(46177198-46229191)
    zebrafish
    (Danio rerio)
    Actinopterygii AL935296.16
    dpy19l1l6
    dpy-19-like 1, like (H. sapiens)
    54(a)
    54(a)
    many ↔ many
    many ↔ many
    16(45505639-45521546) ENSDARG00000069995
    16(45443965-45457345) ENSDARG00000077869
    worm
    (Caenorhabditis elegans)
    Secernentea dpy-196
    Protein DPY-19 (dpy-19) mRNA, complete cds
    38(a)
    1 → many
    III(8659874-8667475) WBGene00001078


    ENSEMBL Gene Tree for DPY19L2 (if available)
    TreeFam Gene Tree for DPY19L2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DPY19L2 gene
    DPY19L32  DPY19L42  DPY19L12  
    4 SIMAP similar genes for DPY19L2 using alignment to 7 protein entries:     D19L2_HUMAN (see all proteins):
    DPY19L2P2    DPY19L2P1    DPY19L1    DPY19L3

    DPY19L2 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for DPY19L2 (see all 12)
    PGOHUM00000238556 PGOHUM00000260203 PGOHUM00000260206 PGOHUM00000260207 PGOHUM00000260208


    (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 DPY19L2 (see all 2601)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs10640241,2
    --61005294(-) CATTTC/TACTAT 1 -- ut31 ese30--------
    rs10640231,2
    --61005295(-) CCATTA/TTACTA 1 -- ut31 ese30--------
    rs10640221,2
    --61005306(-) AAGGAA/TACTAC 1 -- ut31 ese30--------
    rs2006484261,2
    C--61005618(+) AAATT-/AAAAAA 1 -- int10--------
    rs28787031,2
    H--61010527(-) aaaacA/Gctgag 1 -- int14Minor allele frequency- G:0.00NS EA 404
    rs2010052411,2
    C--61013915(+) ACCAG-/ATATAATA 1 -- int10--------
    rs39652101,2
    F,H--61017211(-) ctctaC/Tcctac 1 -- int14Minor allele frequency- T:0.02NS EA 416
    rs29398531,2
    --61026081(-) TACTTC/AGTTTT 1 -- int11Minor allele frequency- A:0.00NA 2
    rs1461245531,2
    C--61039280(+) TTGTA-/TGTGTGT 1 -- int10--------
    rs26599831,2
    O--61045947(+) CCATCA/TTCAAG 1 -- int10--------

    HapMap Linkage Disequilibrium report for DPY19L2 (63952693 - 64062719 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DPY19L2 (see all 37):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv436142CNV Deletion17901297
    dgv209e201CNV Deletion23290073
    dgv297e199CNV Deletion23128226
    nsv436145CNV Deletion17901297
    esv2422401CNV Duplication17116639
    nsv745CNV Insertion18451855
    nsv899168CNV Loss21882294
    nsv832440CNV Loss17160897
    nsv899200CNV Loss21882294
    dgv1439n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): DPY19L2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DPY19L2
    DNA2.0 Custom Variant and Variant Library Synthesis for DPY19L2

    (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: 613893   
    OMIM disorders: 613958  
    UniProtKB/Swiss-Prot: D19L2_HUMAN, Q6NUT2
  • Spermatogenic failure 9 (SPGF9) [MIM:613958]: An infertility disorder caused by spermatogenesis defects.
    The most prominent feature is the malformation of the acrosome, which can be totally absent in most severe cases.
    Additional features are an abnormal nuclear shape and abnormal arrangement of the mitochondria of the
    spermatozoon. Note=The disease is caused by mutations affecting the gene represented in this entry. Deletions in
    DPY19L2 are probably the major cause of SPGF9

  • 8 diseases for DPY19L2:    About MalaCards
    spermatogenic failure 9    spermatogenic failure 6    spermatogenic failure    globozoospermia
    infertility    male infertility    multiple myeloma    myeloma

    2 diseases from the University of Copenhagen DISEASES database for DPY19L2:
    Male infertility     Infertility

    DPY19L2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DPY19L2

    Export disorders for DPY19L2 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 DPY19L2 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with DPY19L2)
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    1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2, 3 Clark H.F.... Gray A.M. (Genome Res. 2003)
    2. A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. (PubMed id 21397064)1, 2 Harbuz R....Ray P.F. (Am. J. Hum. Genet. 2011)
    3. Duplication and relocation of the functional DPY19L2 gene within low copy repeats. (PubMed id 16526957)1, 2 Carson A.R.... Scherer S.W. (BMC Genomics 2006)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations. (PubMed id 23512994)1 Zhu F....Lu G. (Mol. Hum. Reprod. 2013)
    6. Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population. (PubMed id 23555282)1 Coutton C....Ray P.F. (PLoS Genet. 2013)
    7. 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)
    8. Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots. (PubMed id 22653751)1 Elinati E....Viville S. (Hum. Mol. Genet. 2012)
    9. MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia. (PubMed id 22627659)1 Coutton C....Ray P.F. (Hum. Reprod. 2012)
    10. DPY19L2 deletion as a major cause of globozoospermia. (PubMed id 21397063)2 Koscinski I.... Viville S. (Am. J. Hum. Genet. 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)
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    Entrez Gene: 283417 HGNC: 19414 AceView: FLJ32949 Ensembl:ENSG00000177990 euGenes: HUgn283417
    ECgene: DPY19L2 H-InvDB: DPY19L2

    (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)
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    NameDescription
    PharmGKB entry for DPY19L2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for DPY19L2 gene:
    Search GeneIP for patents involving DPY19L2

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