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DHX30 Gene

protein-coding   GIFtS: 52
GCID: GC03P047844

DEAH (Asp-Glu-Ala-His) Box Helicase 30

(Previous names: DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30, DEAH (Asp-Glu-Ala-His)...)
(Previous symbol: DDX30)
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(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
DEAH (Asp-Glu-Ala-His) Box Helicase 301 2     Putative ATP-Dependent RNA Helicase DHX302
DDX301 2 3     Retina Co-Repressor2
DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 301 2     EC 3.6.4.133
DEAH (Asp-Glu-Ala-His) Box Polypeptide 301 2     KIAA08903
DEAH Box Protein 302 3     EC 3.6.18
RETCOR2     

External Ids:    HGNC: 167161   Entrez Gene: 229072   Ensembl: ENSG000001321537   UniProtKB: Q7L2E33   

Export aliases for DHX30 gene to outside databases

Previous GC identifers: GC03P047663 GC03P047805 GC03P047819


(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 DHX30 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 DEAD box protein family are believed to be involved in embryogenesis,
spermatogenesis, and cellular growth and division. The family member encoded by this gene is a mitochondrial
nucleoid protein that associates with mitochondrial DNA. It has also been identified as a component of a
transcriptional repressor complex that functions in retinal development, and it is required to optimize the
function of the zinc-finger antiviral protein. Alternatively spliced transcript variants have been found for this
gene. (provided by RefSeq, Feb 2013)

GeneCards Summary for DHX30 Gene:
DHX30 (DEAH (Asp-Glu-Ala-His) box helicase 30) is a protein-coding gene. GO annotations related to this gene include RNA binding and ATP-dependent helicase activity. An important paralog of this gene is DHX29.

UniProtKB/Swiss-Prot: DHX30_HUMAN, Q7L2E3
Function: Required for optimal function of the zinc-finger antiviral protein ZC3HAV1 (By similarity). Associates
with mitochondrial DNA




(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_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DHX30 gene promoter:
         TBP   p53   Egr-1   NF-kappaB   Egr-2   c-Rel   NF-kappaB2   SEF-1 (1)   NF-kappaB1   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DHX30 promoter sequence
   Search Chromatin IP Primers for DHX30

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DHX30


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

Entrez Gene cytogenetic band: 3p21.31   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p24.3-p22.1

DHX30 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DHX30 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P047844:  view genomic region     (about GC identifiers)

Start:
47,844,399 bp from pter      End:
47,891,686 bp from pter
Size:
47,288 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, 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: DHX30_HUMAN, Q7L2E3 (See protein sequence)
Recommended Name: Putative ATP-dependent RNA helicase DHX30  
Size: 1194 amino acids; 133938 Da
Subunit: Identified in a complex with TFAM and SSBP1. Interacts with AGO1 and AGO2. Interacts (via N-terminus)
with ZC3HAV1 (via N-terminal domain) in an RNA-independent manner (By similarity)
Sequence caution: Sequence=BAA74913.2; Type=Erroneous initiation; Sequence=BAA92071.1; Type=Miscellaneous
discrepancy; Note=Probable cloning artifact;
1 PDB 3D structure from and Proteopedia for DHX30:
2DB2 (3D)    
Secondary accessions: A8K5F1 O94965 Q7Z753 Q96CH4 Q9NUQ0
Alternative splicing: 3 isoforms:  Q7L2E3-1   Q7L2E3-2   Q7L2E3-3   (Contains a phosphoserine at position 15)

Explore the universe of human proteins at neXtProt for DHX30: NX_Q7L2E3

Explore proteomics data for DHX30 at MOPED

Post-translational modifications: 

  • Isoform 2 is phosphorylated on Ser-151
  • Ubiquitination2 at Lys48
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DHX30 (Q7L2E3) (see all 40)
     GDTGCGK  TVGTKTK  TNIAETS  WPCPMTF 


    See DHX30 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_055781.2  NP_619520.1  

    ENSEMBL proteins: 
     ENSP00000405620   ENSP00000395166   ENSP00000379094   ENSP00000410571   ENSP00000343442  
     ENSP00000394682   ENSP00000392601  

    DHX30 Human Recombinant Protein Products:

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    Novus Biologicals DHX30 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for DHX30 

     
    Search antibodies-online for proteins for DHX30 

     
    antibodies-online peptides for DHX30

    DHX30 Antibody Products:

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    Abcam antibodies for DHX30 (Q7L2E3, Q7L2E3-2)
    Browse Antibodies at Cloud-Clone Corp.
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    antibodies-online antibodies for DHX30 (18 products) 

    DHX30 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for DHX30 
    antibodies-online kits for DHX30 (10 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:
    DHX: DEAH-boxes

    Selected InterPro protein domains (see all 7):
     IPR011545 DNA/RNA_helicase_DEAD/DEAH_N
     IPR002464 DNA/RNA_helicase_DEAH_CS
     IPR007502 Helicase-assoc_dom
     IPR011709 DUF1605
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q7L2E3

    ProtoNet protein and cluster: Q7L2E3

    2 Blocks protein domains:
    IPB002464 ATP-dependent helicase
    IPB007502 Helicase-associated region


    UniProtKB/Swiss-Prot: DHX30_HUMAN, Q7L2E3
    Similarity: Belongs to the DEAD box helicase family. DEAH subfamily
    Similarity: Contains 1 DRBM (double-stranded RNA-binding) domain
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain


    Find genes that share domains with DHX30           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: DHX30_HUMAN, Q7L2E3
    Function: Required for optimal function of the zinc-finger antiviral protein ZC3HAV1 (By similarity). Associates
    with mitochondrial DNA
    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 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003682chromatin binding IDA18063578
    GO:0003725double-stranded RNA binding IDA--
    GO:0004386helicase activity ----
    GO:0005515protein binding IPI17255935
         
    Find genes that share ontologies with DHX30           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for DHX30:
     Decreased number of cells in m  Increased cell number in G1, a  Synthetic lethal with Ras 

         1 MGI phenotypic allele for Dhx30 (no phenotypes)

    Find genes that share phenotypes with DHX30           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Dhx30tm1(KOMP)Vlcg for DHX30

       genOway: Develop your customized and physiologically relevant rodent model for DHX30

    miRNA
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    miRTarBase miRNAs that target DHX30:
    hsa-mir-149-5p (MIRT045535), hsa-mir-1260b (MIRT052709), hsa-mir-93-3p (MIRT038885), hsa-mir-15b-5p (MIRT046475), hsa-mir-16-5p (MIRT051274), hsa-mir-92a-3p (MIRT048943), hsa-mir-26b-5p (MIRT029845), hsa-mir-589-3p (MIRT040503), hsa-mir-193b-3p (MIRT041576), hsa-mir-484 (MIRT041892)

    Block miRNA regulation of human, mouse, rat DHX30 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate DHX30:
    hsa-miR-3121-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DHX30

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for DHX30
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DHX30 (NM_138615)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DHX30
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DHX30

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for DHX30 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHX30


    (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
    DHX30_HUMAN, Q7L2E3: Isoform 2: Cytoplasm
    DHX30_HUMAN, Q7L2E3: Isoform 1: Cytoplasm
    DHX30_HUMAN, Q7L2E3: Mitochondrion. Cytoplasm (Potential). Mitochondrion matrix, mitochondrion nucleoid
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol3
    nucleus3

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0042645mitochondrial nucleoid IDA18063578

    Find genes that share ontologies with DHX30           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DHX30
    Interactions:

        Search GeneGlobe Interaction Network for DHX30

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

    Selected Interacting proteins for DHX30 (Q7L2E31, 2, 3 ENSP000003926014) via UniProtKB, MINT, STRING, and/or I2D (see all 551)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TBL3Q127881, 2, 3, ENSP000003318154EBI-1211456,EBI-715766 MINT-4303156 MINT-4303865 MINT-4303875 MINT-4303170 MINT-4303314 I2D: score=3 STRING: ENSP00000331815
    NR2E3Q9Y5X41, 2, 3EBI-1211456,EBI-7216962 MINT-4302975 MINT-4303674 MINT-4302998 MINT-4302946 MINT-4303427 I2D: score=3 
    RBL1P287491, 2, 3, ENSP000003627684EBI-1211456,EBI-971402 MINT-4303197 MINT-4303401 MINT-4303068 MINT-4303903 I2D: score=3 STRING: ENSP00000362768
    HDAC3O153791, 2, 3, ENSP000003029674EBI-1211456,EBI-607682 MINT-4303223 MINT-4303376 MINT-4303094 I2D: score=3 STRING: ENSP00000302967
    NCOR1O753761, 2, 3, ENSP000002687124EBI-1211456,EBI-347233 MINT-4303028 MINT-4303286 MINT-4303298 I2D: score=3 STRING: ENSP00000268712
    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 DHX30



    (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 DHX30 gene (3 alternative transcripts): 
    NM_014966.3  NM_138615.2  NM_138614.1  

    Unigene Cluster for DHX30:

    DEAH (Asp-Glu-Ala-His) box polypeptide 30
    Hs.517948  [show with all ESTs]
    Unigene Representative Sequence: NM_014966
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000472718(uc003crr.4) ENST00000445061 ENST00000476446 ENST00000415400
    ENST00000492893 ENST00000395745 ENST00000441384(uc003crs.2) ENST00000348968
    ENST00000457607(uc010hjr.1) ENST00000471082 ENST00000470959 ENST00000461905
    ENST00000474183 ENST00000446256(uc003crt.3 uc003cru.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DHX30 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate DHX30:
    hsa-miR-3121-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DHX30
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    GenScript: all cDNA clones in your preferred vector (see all 2): DHX30 (NM_138615)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DHX30
    Primer
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    OriGene qPCR primer pairs and template standards for DHX30
    OriGene qSTAR qPCR primer pairs in human, mouse for DHX30
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DHX30
      QuantiTect SYBR Green Assays in human, mouse, rat DHX30
      QuantiFast Probe-based Assays in human, mouse, rat DHX30

    Additional mRNA sequence: 

    AB020697.1 AK002076.1 AK096791.1 AK291266.1 BC014237.2 BC015029.1 BC020126.1 BC028405.1 
    BC038417.1 BC047335.1 BC063510.1 NR_075079.1 

    Selected DOTS entries (see all 30):

    DT.448445  DT.100827390  DT.95159299  DT.91756949  DT.91756925  DT.120893595  DT.95159303  DT.91756928 
    DT.310715  DT.97783615  DT.120893539  DT.120893750  DT.100698083  DT.40131216  DT.102832597  DT.120893843 
    DT.70104578  DT.101984673  DT.100653404  DT.100827388  DT.120893615  DT.91696882  DT.102832601  DT.121608274 

    Selected AceView cDNA sequences (see all 457):

    CD368247 BQ645880 AW029278 CD674616 CF272423 BM709299 BQ008273 BQ316378 
    CA426688 BQ922537 BE740552 AA016091 CA439325 AA310536 CD674326 BI196226 
    BM800978 BQ052874 BQ025785 CB177892 AI929185 BQ680701 AI246365 BE384979 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DHX30 (see all 12)    About this scheme

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

    ExUns: 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26
    SP1:                                                                                    
    SP2:                                                                                    
    SP3:  -     -     -     -     -     -     -     -     -     -     -     -               
    SP4:                                                                                    
    SP5:                                                                                    


    ECgene alternative splicing isoforms for DHX30

    (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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    DHX30 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGAGCGGA
    DHX30 Expression
    About this image

    DHX30 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DHX30 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.517948
        Custom PCR Arrays for DHX30
    Primer
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    QuantiTect SYBR Green Assays in human, mouse, rat DHX30
    QuantiFast Probe-based Assays in human, mouse, rat DHX30
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHX30

    (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 DHX30 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dhx301 , 5 DEAH (Asp-Glu-Ala-His) box polypeptide 301, 5 89.15(n)1
    97.5(a)1
      9 (59.86 cM)5
    728311  NM_001252683.11  NP_001239612.11 
     1100843205 
    chicken
    (Gallus gallus)
    Aves DHX301 DEAH (Asp-Glu-Ala-His) box polypeptide 30 75.21(n)
    78.47(a)
      420376  NM_001012851.1  NP_001012869.1 
    lizard
    (Anolis carolinensis)
    Reptilia DHX306
    DEAH (Asp-Glu-Ala-His) box helicase 30
    76(a)
    1 ↔ 1
    GL343620.1(191549-223015)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.3442 Transcribed sequence with weak similarity to protein more 69.59(n)    AL848634.2 
    zebrafish
    (Danio rerio)
    Actinopterygii dhx301 DEAH (Asp-Glu-Ala-His) box polypeptide 30 58.56(n)
    53.99(a)
      570735  XM_005171083.1  XP_005171140.1 


    ENSEMBL Gene Tree for DHX30 (if available)
    TreeFam Gene Tree for DHX30 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DHX30 gene
    DHX292  DHX362  TDRD92  YTHDC22  DHX572  DHX92  
    2 SIMAP similar genes for DHX30 using alignment to 3 protein entries:     DHX30_HUMAN (see all proteins):
    DHX36    HIG-1

    Find genes that share paralogs with DHX30           About GenesLikeMe



    (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 DHX30 (see all 841)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1817961481,2
    --47842473(+) TCTATC/TTTCCC 3 -- us2k10--------
    rs1859440631,2
    --47842528(+) CAGTAC/TTGGCC 3 -- us2k10--------
    rs1467760681,2
    --47842610(+) AGTTCA/GAGGCC 3 -- us2k10--------
    rs1157535561,2
    F--47842635(+) GGTGAA/CACCAT 3 -- us2k11Minor allele frequency- C:0.01WA 118
    rs1413854291,2
    C--47842687(+) CACCT-/GTAATT 3 -- us2k10--------
    rs1161365131,2
    F--47842998(+) CCCTTG/CTTCCA 3 -- us2k11Minor allele frequency- C:0.06WA 118
    rs3741578251,2
    C--47843022(+) GTTCAC/TTTCCT 3 -- us2k10--------
    rs1146943671,2
    F--47843130(+) ACAATG/ATTGTC 3 -- us2k11Minor allele frequency- A:0.06WA 118
    rs1407293421,2
    --47843224(+) CAGATA/GTCCGT 3 -- us2k10--------
    rs1886788761,2
    --47843252(+) CTCCAC/TACAAC 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for DHX30 (47844399 - 47891686 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for DHX30:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3808CNV Insertion18451855
    nsv231CNV Insertion15895083
    nsv508916CNV Insertion20534489
    nsv834679CNV Loss17160897
    nsv10270CNV Gain18304495

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DHX30
    DNA2.0 Custom Variant and Variant Library Synthesis for DHX30

    (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.)
    About This Section

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    Find genes that share disorders with DHX30           About GenesLikeMe

    Genetic Association Database (GAD): DHX30
    Human Genome Epidemiology (HuGE) Navigator: DHX30 (1 document)

    Export disorders for DHX30 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 DHX30 gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with DHX30)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1998)
    2. 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)
    3. The packaging of human immunodeficiency virus type 1 RNA is restricted by overexpression of an RNA helicase DHX30. (PubMed id 18022663)1, 3 Zhou Y....Liang C. (Virology 2008)
    4. The layered structure of human mitochondrial DNA nucleoids. (PubMed id 18063578)1, 2 Bogenhagen D.F.... Burke S. (J. Biol. Chem. 2008)
    5. Proteomic and functional analysis of Argonaute-containing mRNA- protein complexes in human cells. (PubMed id 17932509)1, 2 Hoeck J.... Meister G. (EMBO Rep. 2007)
    6. Human mitochondrial DNA nucleoids are linked to protein folding machinery and metabolic enzymes at the mitochondrial inner membrane. (PubMed id 16825194)1, 2 Wang Y. and Bogenhagen D.F. (J. Biol. Chem. 2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    9. In pursuit of synthetic modulators for the orphan retina-specific nuclear receptor NR2E3. (PubMed id 23098562)1 Qin Q....Petrukhin K. (J Ocul Pharmacol Ther 2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 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)
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    Entrez Gene: 22907 HGNC: 16716 AceView: DHX30 Ensembl:ENSG00000132153 euGenes: HUgn22907
    ECgene: DHX30 H-InvDB: DHX30

    (According to HUGE)
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    HUGE: KIAA0890

    (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 DHX30 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 DHX30 gene:
    Search GeneIP for patents involving DHX30

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



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    Advanced Cell Diagnostics, Animal models from genOway)
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