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DDX3Y Gene

protein-coding   GIFtS: 59
GCID: GC0YP015016

DEAD (Asp-Glu-Ala-Asp) Box Helicase 3, Y-Linked

(Previous names: DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome,...)
(Previous symbol: DBY)
  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
DEAD (Asp-Glu-Ala-Asp) Box Helicase 3, Y-Linked1 2     DEAD Box Protein 3, Y-Chromosomal2 3
DBY1 2 3 5     ATP-Dependent RNA Helicase DDX3Y2
DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 3, Y-Linked1 2     EC 3.6.4.133
DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide, Y Chromosome1 2     EC 3.6.18

External Ids:    HGNC: 26991   Entrez Gene: 86532   Ensembl: ENSG000000670487   OMIM: 4000105   UniProtKB: O155233   

Export aliases for DDX3Y gene to outside databases

Previous GC identifers: GC0YP014327 GC0YP014024 GC0YP014025 GC0YP013454 GC0YP013526 GC0YP009668


(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 DDX3Y Gene:
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They
are implicated in a number of cellular processes involving alteration of RNA secondary structure such as
translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their
distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis,
and cellular growth and division. This gene encodes a DEAD box protein, and it has a homolog on the X chromosome.
The gene mutation causes male infertility, Sertoli cell-only syndrome or severe hypospermatogenesis, suggesting
that this gene plays a key role in the spermatogenic process. Alternatively spliced variants, encoding the same
protein, have been identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for DDX3Y Gene:
DDX3Y (DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked) is a protein-coding gene. Diseases associated with DDX3Y include spermatocytoma, and infertility. GO annotations related to this gene include RNA binding and ATP-dependent helicase activity. An important paralog of this gene is DDX3X.

UniProtKB/Swiss-Prot: DDX3Y_HUMAN, O15523
Function: Probable ATP-dependent RNA helicase. May play a role in spermatogenesis

Gene Wiki entry for DDX3Y 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_000024.10  NT_011875.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the DDX3Y gene promoter:
         AREB6   AP-1   PPAR-gamma2   Tal-1beta   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDDX3Y promoter sequence
   Search Chromatin IP Primers for DDX3Y

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DDX3Y


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

Entrez Gene cytogenetic band: Yq11   Ensembl cytogenetic band:  Yq11.21   HGNC cytogenetic band: Yq11

DDX3Y Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DDX3Y gene location

GeneLoc information about chromosome Y         GeneLoc Exon Structure

GeneLoc location for GC0YP015016:  view genomic region     (about GC identifiers)

Start:
15,016,019 bp from pter      End:
15,032,390 bp from pter
Size:
16,372 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: DDX3Y_HUMAN, O15523 (See protein sequence)
Recommended Name: ATP-dependent RNA helicase DDX3Y  
Size: 660 amino acids; 73154 Da
Subunit: May interact with TDRD3
Secondary accessions: Q8IYV7

Explore the universe of human proteins at neXtProt for DDX3Y: NX_O15523

Explore proteomics data for DDX3Y at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys206, Lys262, Lys340, Lys489
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DDX3Y (O15523) (see all 38)
     DMGFEPQ  YIPPHLR  LAPTREL  DEADRML 


    See DDX3Y Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001116137.1  NP_004651.2  

    ENSEMBL proteins: 
     ENSP00000353284   ENSP00000398953   ENSP00000336725   ENSP00000400377  

    DDX3Y Human Recombinant Protein Products:

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    Novus Biologicals DDX3Y Proteins
    Novus Biologicals DDX3Y Lysates
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    Browse Sino Biological Cell Lysates
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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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    HGNC Gene Families:
    DDX: DEAD-boxes

    Selected InterPro protein domains (see all 6):
     IPR011545 DNA/RNA_helicase_DEAD/DEAH_N
     IPR000629 RNA-helicase_DEAD-box_CS
     IPR027417 P-loop_NTPase
     IPR014014 RNA_helicase_DEAD_Q_motif
     IPR014001 Helicase_ATP-bd

    Graphical View of Domain Structure for InterPro Entry O15523

    ProtoNet protein and cluster: O15523

    1 Blocks protein domain: IPB000629 ATP-dependent helicase

    UniProtKB/Swiss-Prot: DDX3Y_HUMAN, O15523
    Similarity: Belongs to the DEAD box helicase family. DDX3/DED1 subfamily
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain


    DDX3Y 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: DDX3Y_HUMAN, O15523
    Function: Probable ATP-dependent RNA helicase. May play a role in spermatogenesis
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.131

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0003723RNA binding IEA--
    GO:0004386helicase activity ----
    GO:0005524ATP binding IEA--
         
    DDX3Y for ontologies           About GeneDecksing


    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target DDX3Y:
    hsa-mir-16-5p (MIRT032055), hsa-mir-221-3p (MIRT046978), hsa-mir-1260b (MIRT052727), hsa-mir-124-3p (MIRT023122)

    Block miRNA regulation of human, mouse, rat DDX3Y using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DDX3Y (see all 64):
    hsa-miR-4272 hsa-miR-15a hsa-miR-519a hsa-miR-4325 hsa-miR-3613-3p hsa-miR-200b hsa-miR-92b hsa-miR-3688-3p
    SwitchGear 3'UTR luciferase reporter plasmidDDX3Y 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DDX3Y

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    GenScript: all cDNA clones in your preferred vector (see all 2): DDX3Y (NM_004660)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DDX3Y
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DDX3Y

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDX3Y


    (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
    DDX3Y_HUMAN, O15523: Cytoplasm. Nucleus. Note=Shuttles between the nucleus and the cytoplasm in an XPO1-dependent
    manner
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--

    DDX3Y 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 DDX3Y
    Interactions:

        Search GeneGlobe Interaction Network for DDX3Y

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

    Selected Interacting proteins for DDX3Y (O155232, 3 ENSP000003367254) via UniProtKB, MINT, STRING, and/or I2D (see all 208)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000172850Q9Y3333I2D: score=4 
    ENSG00000224979Q9Y3333I2D: score=4 
    ENSG00000225998Q9Y3333I2D: score=4 
    ENSG00000231502Q9Y3333I2D: score=4 
    ENSG00000236826Q9Y3333I2D: score=4 
    About this table

    (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 DDX3Y



    (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 DDX3Y gene (2 alternative transcripts): 
    NM_001122665.1  NM_004660.3  

    Unigene Cluster for DDX3Y:

    DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked
    Hs.99120  [show with all ESTs]
    Unigene Representative Sequence: NM_001122665
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000360160 ENST00000454054 ENST00000336079(uc004fsu.1 uc010nwv.1 uc011naq.1 uc004fsv.2 uc010nww.1 uc011nar.1)
    ENST00000493363 ENST00000440554 ENST00000469101 ENST00000472510 ENST00000463199
    ENST00000495478
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate DDX3Y (see all 64):
    hsa-miR-4272 hsa-miR-15a hsa-miR-519a hsa-miR-4325 hsa-miR-3613-3p hsa-miR-200b hsa-miR-92b hsa-miR-3688-3p
    SwitchGear 3'UTR luciferase reporter plasmidDDX3Y 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DDX3Y
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    OriGene ORF clones in mouse, rat for DDX3Y
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DDX3Y (NM_004660)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DDX3Y
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DDX3Y
    Primer
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    OriGene qPCR primer pairs and template standards for DDX3Y
    OriGene qSTAR qPCR primer pairs in human, mouse for DDX3Y
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DDX3Y
      QuantiTect SYBR Green Assays in human, mouse, rat DDX3Y
      QuantiFast Probe-based Assays in human, mouse, rat DDX3Y

    Additional mRNA sequence: 

    AF000984.1 AF000985.1 AK296366.1 AK302172.1 AK303176.1 AK303638.1 AK307884.1 AK310382.1 
    BC011022.1 BC034942.2 

    11 DOTS entries:

    DT.75122010  DT.100662033  DT.120653361  DT.75182652  DT.100720496  DT.87079201  DT.91653447  DT.95260035 
    DT.120653365  DT.95260036  DT.95260037 

    Selected AceView cDNA sequences (see all 119):

    CD358766 AL046798 AA447588 AA811802 BQ009351 CD557228 BQ006257 BM723220 
    AA629589 BM955866 AU279665 AA806363 CD358163 BM835031 BC034942 BM828395 
    BQ003181 CN480253 BQ718381 BQ427895 AL046792 BP361097 CB160793 AI809879 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DDX3Y (see all 12)    About this scheme

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

    ExUns: 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b · 20c
    SP1:                                                                  
    SP2:                                                                  
    SP3:                                                                  
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for DDX3Y

    (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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    DDX3Y expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTCTGTTT
    DDX3Y Expression
    About this image


    DDX3Y expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Testicular Interstitial Cells Testis Interstitium
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Endothelial Cells Blood Brain Barrier
             Human umbilical vein endothelial cells (HUVEC)
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Gonad (Reproductive System)    fully expand to see all 2 entries
             Testis Somatic Cells Primitive Gonad
    DDX3Y Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DDX3Y Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.99120

    UniProtKB/Swiss-Prot: DDX3Y_HUMAN, O15523
    Tissue specificity: Testis-specific. Expressed predominantly in spermatogonia

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDX3Y

    (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 eukaryotes.

    Orthologs for DDX3Y gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ddx3y1 , 5 DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked1, 5 87.32(n)1
    88.43(a)1
      Y5
    269001  NM_012008.21  NP_036138.11 
     12607155 
    chicken
    (Gallus gallus)
    Aves DDX3X6
    Gallus gallus DEAD (Asp-Glu-Ala-Asp) box polypepti...
    88(a)
    1 → many
    1(111360104-111377529)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    78(a)
    1 → many
    3(134104469-134125049)
    zebrafish
    (Danio rerio)
    Actinopterygii pl106
    ddx36
    DEAD (Asp-Glu-Ala-Asp) box polypeptide 3
    74(a)
    71(a)
    many ↔ many
    many ↔ many
    6(59558985-59576603) ENSDARG00000005774
    9(34367809-34388046) ENSDARG00000020573
    fruit fly
    (Drosophila melanogaster)
    Insecta bel6
    belle
    50(a)
    1 → many
    3R(4481309-4486483)
    worm
    (Caenorhabditis elegans)
    Secernentea vbh-11 vbh-1 56.71(n)
    57.68(a)
      171888  NM_058712.3  NP_491113.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DED1(YOR204W)4
    DED11
    ATP-dependent DEAD (Asp-Glu-Ala-Asp)-box RNA helicase, more4
    DED11
    57.38(n)1
    57.01(a)1
      15(722911-724725)4
    8543791, 4  NP_014847.31  NP_014847.14 
    rice
    (Oryza sativa)
    Liliopsida Os11g05995001 Os11g0599500 53.26(n)
    56.27(a)
      4350856  NM_001074753.1  NP_001068221.1 


    ENSEMBL Gene Tree for DDX3Y (if available)
    TreeFam Gene Tree for DDX3Y (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DDX3Y gene
    DDX3X2  DDX12  DDX42  
    Selected SIMAP similar genes for DDX3Y using alignment to 4 protein entries:     DDX3Y_HUMAN (see all proteins) (see all similar genes):
    DDX3X    DDX53    DDX46    DDX54    DDX41    EIF4A2
    DDX43    DDX59    EIF4A1    DDX5    DDX42    DKFZp547B159
    DDX4    DDX52    DKFZp686J01190    EIF4A3    DDX17    E4-DBP

    DDX3Y for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for DDX3Y
    PGOHUM00000246016 PGOHUM00000241852


    (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 DDX3Y (see all 204)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr Y posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs20326621,2
    C,F--15014262(+) gatccC/Tttgag 1 -- us2k13Minor allele frequency- T:0.07NA CSA 74
    rs20326771,2
    C--15014550(+) TTTTTT/CTTCCC 1 -- us2k1 tfbs3 trp32Minor allele frequency- C:0.01NA 73
    rs133049921,2
    C--15015396(+) GTTACG/AAACGT 2 -- us2k11Minor allele frequency- A:0.00NA 2
    rs93068361,2
    C--15016438(+) GGAGGG/CAGCGG 2 -- int1 us2k1 trp31Minor allele frequency- C:0.01NS 109
    rs20326801,2
    C,F,H--15016536(+) GCATTA/GGGAGA 2 -- int1 us2k17Minor allele frequency- G:0.01NA EA NS 389
    rs93412851,2
    C--15017505(+) CGTAAC/TAAGTA 2 -- int12Minor allele frequency- T:0.01NS NA 111
    rs81790221,2
    C,F--15018459(+) AGATGG/ACAAGA 2 -- int13Minor allele frequency- A:0.02NS NA 194
    rs81790211,2
    C,F--15018582(+) GTGCTC/TTTGGC 2 -- int12Minor allele frequency- T:0.07NS 192
    rs93412861,2
    C,F--15019092(+) TGTCAT/CTGGGA 2 -- int12Minor allele frequency- C:0.07NS CSA 110
    rs93412871,2
    F--15019124(+) AGCTAA/CATTGG 2 -- int12Minor allele frequency- C:0.03NS CSA 110

    HapMap Linkage Disequilibrium report for DDX3Y (15016019 - 15032390 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for DDX3Y:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2740672CNV Deletion23290073

    Human Gene Mutation Database (HGMD): DDX3Y
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DDX3Y
    DNA2.0 Custom Variant and Variant Library Synthesis for DDX3Y

    (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: 400010    OMIM disorders: --

    UniProtKB/Swiss-Prot: DDX3Y_HUMAN, O15523
  • Note=DDX3Y is located in the 'azoospermia factor a' (AZFa) region on chromosome Y which is deleted in
    Sertoli cell-only syndrome. This is an infertility disorder in which no germ cells are visible in seminiferous
    tubules leading to azoospermia

  • 20 diseases for DDX3Y:    
    About MalaCards
    spermatocytoma    infertility    sertoli cell-only syndrome    male infertility
    y chromosome infertility    spermatogenic failure, y-linked, 2    astigmatism    spermatogenic failure
    azoospermia    graft versus host disease    hypercalcemia    meningioma
    choroiditis    multiple myeloma    myeloma    hepatitis b
    breast cancer    endotheliitis    hepatitis    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for DDX3Y:
    Azoospermia     Sertoli cell-only syndrome

    DDX3Y for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for DDX3Y gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    azoospermia 80.4 3 11097428 (1), 15383328 (1), 14751364 (1)
    oligozoospermia 71.7 1 15383328 (1)
    infertility male 61.1 1 11294825 (1)
    graft-versus-host disease 45.6 1 11929796 (1)

    GeneTests: DDX3Y
    GeneReviews: DDX3Y

    Export disorders for DDX3Y 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 DDX3Y gene, integrated from 10 sources (see all 61):
    (articles sorted by number of sources associating them with DDX3Y)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Functional coherence of the human Y chromosome. (PubMed id 9381176)1, 2, 3 Lahn B.T. and Page D.C. (Science 1997)
    2. The AZFa gene DBY (DDX3Y) is widely transcribed but the protein is limited to the male germ cells by translation control. (PubMed id 15294876)1, 2, 9 Ditton H.J.... Vogt P.H. (Hum. Mol. Genet. 2004)
    3. Human DDX3Y, the Y-encoded isoform of RNA helicase DDX3, rescues a hamster temperature-sensitive ET24 mutant cell line with a DDX3X mutation. (PubMed id 15383328)1, 2, 9 Sekiguchi T.... Nishimoto T. (Exp. Cell Res. 2004)
    4. 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)
    5. Quantification of DDX3Y, RBMY1, DAZ and TSPY mRNAs in testes of patients with severe impairment of spermatogenesis. (PubMed id 17881721)1, 9 Lardone M.C....Castro A. (Mol. Hum. Reprod. 2007)
    6. DDX3Y encodes a class I MHC-restricted H-Y antigen that is expressed in leukemic stem cells. (PubMed id 18299450)1, 9 Rosinski K.V....Warren E.H. (Blood 2008)
    7. Minor histocompatibility antigen DBY elicits a coordinated B and T cell response after allogeneic stem cell transplantation. (PubMed id 15096539)1, 9 Zorn E....Ritz J. (J. Exp. Med. 2004)
    8. The DBY gene codes for an HLA-DQ5-restricted human male-specific minor histocompatibility antigen involved in graft-versus-host disease. (PubMed id 11929796)1, 9 Vogt M.H....Falkenburg J.H. (Blood 2002)
    9. A Proteomics Strategy for the Identification of FAT10-Modified Sites by Mass Spectrometry. (PubMed id 23862649)1 Leng L....Wang J. (J. Proteome Res. 2014)
    10. The intracellular interactome of tetraspanin-enriched microdomains reveals their function as sorting machineries toward exosomes. (PubMed id 23463506)1 Perez-Hernandez D....YA!A+ez-MA^ M. (J. Biol. Chem. 2013)

    (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: 8653 HGNC: 2699 AceView: DDX3Y Ensembl:ENSG00000067048 euGenes: HUgn8653
    ECgene: DDX3Y H-InvDB: DDX3Y

    (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 DDX3Y Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=DDX3Y[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DDX3Y gene:
    Search GeneIP for patents involving DDX3Y

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



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