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DDX23 Gene

protein-coding   GIFtS: 60
GCID: GC12M049223

DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 23

(Previous names: PRP28 homolog, yeast)
  See DDX23-related disease
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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 231 2     prp282
PRP28 Homolog, Yeast1 2     PRP28p Homolog2
100 KDa U5 SnRNP-Specific Protein2 3     U5 SnRNP 100 KD Protein2
DEAD Box Protein 232 3     EC 3.6.4.133
PRPF282     U5-100kD3
SNRNP1002     PRP28 Homolog3
U5-100K2     PRP285
U5-100KD2     EC 3.6.18
Probable ATP-Dependent RNA Helicase DDX232     

External Ids:    HGNC: 173471   Entrez Gene: 94162   Ensembl: ENSG000001742437   OMIM: 6121725   UniProtKB: Q9BUQ83   
ORGUL members:         

Export aliases for DDX23 gene to outside databases

Previous GC identifers: GC12M048940 GC12M047509 GC12M046256


(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 DDX23 Gene:
This gene encodes a member of the DEAD box protein family. 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. The
protein encoded by this gene is a component of the U5 snRNP complex; it may facilitate conformational changes in
the spliceosome during nuclear pre-mRNA splicing. An alternatively spliced transcript variant has been found for
this gene, but its biological validity has not been determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for DDX23 Gene:
DDX23 (DEAD (Asp-Glu-Ala-Asp) box polypeptide 23) is a protein-coding gene. Diseases associated with DDX23 include distal hereditary motor neuropathy, type ii. GO annotations related to this gene include ATP-dependent RNA helicase activity and nucleic acid binding. An important paralog of this gene is DDX59.

UniProtKB/Swiss-Prot: DDX23_HUMAN, Q9BUQ8
Function: Involved in pre-mRNA splicing and its phosphorylated form (by SRPK2) is required for spliceosomal B
complex formation

Gene Wiki entry for DDX23 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 at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DDX23 gene promoter:
         NF-YA   Egr-4   NF-YB   POU2F1   CBF-A   CBF-B   CP1A   POU2F1c   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDDX23 promoter sequence
   Search Chromatin IP Primers for DDX23

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DDX23


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

Entrez Gene cytogenetic band: 12q13.12   Ensembl cytogenetic band:  12q13.12   HGNC cytogenetic band: 12q13.11

DDX23 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DDX23 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M049223:  view genomic region     (about GC identifiers)

Start:
49,223,539 bp from pter      End:
49,246,625 bp from pter
Size:
23,087 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DDX23_HUMAN, Q9BUQ8 (See protein sequence)
Recommended Name: Probable ATP-dependent RNA helicase DDX23  
Size: 820 amino acids; 95583 Da
Subunit: The phosphorylated form (by SRPK2) is a component of the U4/U6-U5 tri-snRNP complex composed of the U4,
U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, WDR57, SNRNP40, DDX23,
CD2BP2, PPIH, NHP2L1, EFTUD2, SART1 and USP39. Identified in the spliceosome C complex. Interacts with ERBB4
Secondary accessions: B2R600 O43188

Explore the universe of human proteins at neXtProt for DDX23: NX_Q9BUQ8

Explore proteomics data for DDX23 at MOPED

Post-translational modifications: 

  • In vitro phosphorylated by CLK1 and U1 snRNP-associated protein kinase. Phosphorylated by SRPK2 and this
    phosphorylation is required for its association with the tri-snRNP (U4/U6-U5 tri-small nuclear
    ribonucleoproteins) and subsequent spliceosomal B complex formation1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DDX23 (Q9BUQ8) (see all 15)
     TPGRLID  GRTGRAG  LAPTREL  VIATPGR 


    See DDX23 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004809.2  
    ENSEMBL proteins: 
     ENSP00000310723   ENSP00000449657   ENSP00000448542   ENSP00000446770   ENSP00000449639  
     ENSP00000446948  
    Reactome Protein details: Q9BUQ8

    DDX23 Human Recombinant Protein Products:

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    Novus Biologicals DDX23 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DDX23

     
    Search eBioscience for Proteins for DDX23 

     
    antibodies-online proteins for DDX23 

     
    antibodies-online peptides for DDX23

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    antibodies-online antibodies for DDX23 (37 products) 

    DDX23 Assay Products:

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    Cloud-Clone Corp. ELISAs for DDX23
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    antibodies-online kits for DDX23 (2 products) 


    (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 Q9BUQ8

    ProtoNet protein and cluster: Q9BUQ8

    1 Blocks protein domain: IPB000629 ATP-dependent helicase

    UniProtKB/Swiss-Prot: DDX23_HUMAN, Q9BUQ8
    Similarity: Belongs to the DEAD box helicase family. DDX23/PRP28 subfamily
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain


    Find genes that share domains with DDX23           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DDX23_HUMAN, Q9BUQ8
    Function: Involved in pre-mRNA splicing and its phosphorylated form (by SRPK2) is required for spliceosomal B
    complex formation
    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 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0004004ATP-dependent RNA helicase activity TAS9409622
    GO:0004386helicase activity ----
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with DDX23           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DDX23:
     Upregulation of Wnt/beta-caten 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for DDX23

    miRNA
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    miRTarBase miRNAs that target DDX23:
    hsa-mir-1229-3p (MIRT036357), hsa-mir-25-3p (MIRT050352), hsa-mir-149-5p (MIRT045430), hsa-mir-106b-5p (MIRT044348), hsa-mir-361-5p (MIRT044059), hsa-mir-744-5p (MIRT037450), hsa-mir-92a-3p (MIRT048936), hsa-mir-615-3p (MIRT039941)

    Block miRNA regulation of human, mouse, rat DDX23 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate DDX23:
    hsa-miR-186* hsa-miR-3065-3p hsa-miR-622 hsa-miR-589* hsa-miR-570 hsa-miR-942 hsa-miR-4330 hsa-miR-3919
    SwitchGear 3'UTR luciferase reporter plasmidDDX23 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DDX23

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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DDX23

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDX23


    (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
    DDX23_HUMAN, Q9BUQ8: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion4
    plasma membrane4

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005682U5 snRNP IDA9539711
    GO:0005730NOT nucleolus IDA--
    GO:0005739mitochondrion IDA--

    Find genes that share ontologies with DDX23           About GenesLikeMe


    (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 DDX23 About    
    See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    mRNA Splicing - Major Pathway0.78
    mRNA Splicing0.78
    Processing of Capped Intron-Containing Pre-mRNA0.78
    mRNA Splicing - Minor Pathway0.38
    2Gene Expression
    Gene Expression0.40
    3Spliceosome
    Spliceosome


    Find genes that share SuperPaths with DDX23           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for DDX23
        mRNA Splicing - Major Pathway
    mRNA Splicing - Minor Pathway


    1 Kegg Pathway  (Kegg details for DDX23):
        Spliceosome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DDX23
    Interactions:

        GeneGlobe Interaction Network for DDX23

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

    Selected Interacting proteins for DDX23 (Q9BUQ82, 3 ENSP000003107234) via UniProtKB, MINT, STRING, and/or I2D (see all 697)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000354cis assembly of pre-catalytic spliceosome IC9539711
    GO:0000375RNA splicing, via transesterification reactions TAS9409622
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006200ATP catabolic process TAS9409622
    GO:0008380RNA splicing TAS--

    Find genes that share ontologies with DDX23           About GenesLikeMe



    (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 DDX23



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DDX23 gene: 
    NM_004818.2  

    Unigene Cluster for DDX23:

    DEAD (Asp-Glu-Ala-Asp) box polypeptide 23
    Hs.130098  [show with all ESTs]
    Unigene Representative Sequence: NM_004818
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000308025(uc001rsm.3) ENST00000550834 ENST00000551331 ENST00000549795
    ENST00000547842 ENST00000552802 ENST00000547290 ENST00000553065 ENST00000547135
    ENST00000547165 ENST00000552069 ENST00000551189 ENST00000553182 ENST00000551098
    ENST00000552512 ENST00000552369 ENST00000551468 ENST00000552555
    miRNA
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    Block miRNA regulation of human, mouse, rat DDX23 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate DDX23:
    hsa-miR-186* hsa-miR-3065-3p hsa-miR-622 hsa-miR-589* hsa-miR-570 hsa-miR-942 hsa-miR-4330 hsa-miR-3919
    SwitchGear 3'UTR luciferase reporter plasmidDDX23 3' UTR sequence
    Inhib. RNA
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    Primer
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    OriGene qPCR primer pairs and template standards for DDX23
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      QuantiTect SYBR Green Assays in human, mouse, rat DDX23
      QuantiFast Probe-based Assays in human, mouse, rat DDX23

    Additional mRNA sequence: 

    AF026402.1 AK128428.1 AK292921.1 AK294877.1 AK312379.1 BC002366.2 

    22 DOTS entries:

    DT.40285691  DT.95328987  DT.100789693  DT.97782679  DT.121145776  DT.121145804  DT.100029819  DT.100774710 
    DT.121145764  DT.92447995  DT.218939  DT.100789690  DT.100789692  DT.121145798  DT.91952335  DT.100029820 
    DT.100703072  DT.121145793  DT.218942  DT.95241762  DT.97765233  DT.75182618 

    4 AceView cDNA sequences:

    BC002366 NM_004818 AK128428 AF026402 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DDX23 (see all 13)    About this scheme

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

    ExUns: 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b
    SP1:                    -                 -                           
    SP2:                    -                 -                           
    SP3:                                                                  
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for DDX23

    (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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    DDX23 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATATTAAGA
    DDX23 Expression
    About this image

    DDX23 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DDX23 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.130098
        Custom PCR Arrays for DDX23
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDX23

    (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 DDX23 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ddx231 , 5 DEAD (Asp-Glu-Ala-Asp) box polypeptide 231, 5 90.96(n)1
    98.66(a)1
      15 (54.65 cM)5
    743511  NM_001080981.11  NP_001074450.11 
     986451345 
    chicken
    (Gallus gallus)
    Aves DDX231 DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 82.49(n)
    98.99(a)
      100858001  XM_003643448.2  XP_003643496.2 
    lizard
    (Anolis carolinensis)
    Reptilia DDX236
    DEAD (Asp-Glu-Ala-Asp) box polypeptide 23
    91(a)
    1 ↔ 1
    2(94306767-94327160)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.247732 Xenopus laevis transcribed sequence with strong similarity more 79.82(n)    BJ042526.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi39b122 wufi39b12 74.33(n)   334283  BC060524.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG103331 CG10333 64.86(n)
    70.38(a)
      35112  NM_136044.2  NP_609888.2 
    worm
    (Caenorhabditis elegans)
    Secernentea ddx-231 ddx-23 62.75(n)
    67.88(a)
      175818  NM_065859.4  NP_498260.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PRP28(YDR243C)4 RNA helicase in the DEAD-box family, involved in RNA more   --   4(950284-948518) 851830  NP_010529.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G337301 AT2G33730 57.38(n)
    56.79(a)
      817938  NM_128931.2  NP_180929.1 
    rice
    (Oryza sativa)
    Liliopsida Os.32282 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 75.33(n)    AK069199.1 


    ENSEMBL Gene Tree for DDX23 (if available)
    TreeFam Gene Tree for DDX23 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DDX23 gene
    DDX592  
    11 SIMAP similar genes for DDX23 using alignment to 6 protein entries:     DDX23_HUMAN (see all proteins):
    DDX56    SH2B3    ATL2    DDX5    DDX41    TUBA1C
    DDX39B    DDX43    EIF4A2    DDX6    DDX46

    Find genes that share paralogs with DDX23           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for DDX23
    PGOHUM00000239785


    (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 DDX23 (see all 519)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1883487341,2
    C--49223440(+) TTCTCC/TTAATG 1 -- ds50010--------
    rs1384601131,2
    C--49223452(+) GGCTG-/TCTCTCA 1 -- ds50010--------
    rs171233491,2
    C,F--49223541(+) ATCTAA/GCAGTC 1 -- ut317Minor allele frequency- G:0.07NA 264
    rs1506772231,2
    C--49223550(+) TCTTAA/GTATTC 1 -- ut310--------
    rs1144202421,2
    C,F--49223649(+) TTCACC/TGTGTC 1 -- ut311Minor allele frequency- T:0.02WA 118
    rs115512731,2
    C--49223678(+) ATCCCC/TTGGGG 1 -- ut313Minor allele frequency- T:0.17NA CSA WA 122
    rs773015711,2
    C,F--49223681(+) CCCTGG/AGGGAG 1 -- ut312Minor allele frequency- A:0.04WA 120
    rs1456201401,2
    C--49223696(+) CCTAG-/GAGCAT 1 -- ut310--------
    rs71641,2
    C,F,A,H--49223719(-) GCCCCG/ACACCA 1 -- ut31 ese329Minor allele frequency- A:0.47MN EA NS NA CSA WA 4651
    rs1401218071,2
    --49223725(+) GGGGCC/TGTGCA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for DDX23 (49223539 - 49246625 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for DDX23:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv826363CNV Gain20364138

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DDX23
    DNA2.0 Custom Variant and Variant Library Synthesis for DDX23

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612172    OMIM disorders: --

    1 disease for DDX23:    
    About MalaCards
    distal hereditary motor neuropathy, type ii


    Find genes that share disorders with DDX23           About GenesLikeMe


    Export disorders for DDX23 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 DDX23 gene, integrated from 10 sources (see all 44):
    (articles sorted by number of sources associating them with DDX23)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human U5 snRNP-specific 100-kD protein is an RS domain- containing, putative RNA helicase with significant homology to the yeast splicing factor Prp28p. (PubMed id 9409622)1, 2, 3, 9 Teigelkamp S.... Luehrmann R. (RNA 1997)
    2. Phosphorylation of human PRP28 by SRPK2 is required for integration of the U4/U6-U5 tri-snRNP into the spliceosome. (PubMed id 18425142)1, 2, 9 Mathew R....Luehrmann R. (Nat. Struct. Mol. Biol. 2008)
    3. The human U5-200kD DEXH-box protein unwinds U4/U6 RNA duplices in vitro. (PubMed id 9539711)1, 3, 9 Laggerbauer B.... Luehrmann R. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    5. 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)
    6. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PubMed id 11991638)1, 2 Jurica M.S.... Moore M.J. (RNA 2002)
    7. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    10. DBIRD complex integrates alternative mRNA splicing with RNA polymerase II transcript elongation. (PubMed id 22446626)1 Close P.... Svejstrup J.Q. (Nature 2012)

    (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)
    About This Section

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    Entrez Gene: 9416 HGNC: 17347 AceView: DDX23 Ensembl:ENSG00000174243 euGenes: HUgn9416
    ECgene: DDX23 Kegg: 9416 H-InvDB: DDX23

    (According to HUGE)
    About This Section

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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 DDX23 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 DDX23 gene:
    Search GeneIP for patents involving DDX23

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



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