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Aliases for DHX30 Gene

Aliases for DHX30 Gene

  • DExH-Box Helicase 30 2 3 5
  • DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 30 2 3
  • DEAH-Box Helicase 30 2 3
  • DEAH Box Protein 30 3 4
  • DDX30 3 4
  • DEAH (Asp-Glu-Ala-His) Box Polypeptide 30 3
  • Putative ATP-Dependent RNA Helicase DHX30 3
  • DEAH (Asp-Glu-Ala-His) Box Helicase 30 3
  • Retina Co-Repressor 3
  • EC 4
  • KIAA0890 4
  • EC 3.6.1 56
  • RETCOR 3

External Ids for DHX30 Gene

Previous HGNC Symbols for DHX30 Gene

  • DDX30

Previous GeneCards Identifiers for DHX30 Gene

  • GC03P047663
  • GC03P047805
  • GC03P047819
  • GC03P047844

Summaries for DHX30 Gene

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 (DExH-Box Helicase 30) is a Protein Coding gene. Diseases associated with DHX30 include Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language and Strabismus. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and chromatin binding. An important paralog of this gene is DHX57.

UniProtKB/Swiss-Prot for DHX30 Gene

  • Plays an important role in the assembly of the mitochondrial large ribosomal subunit (PubMed:25683715). Required for optimal function of the zinc-finger antiviral protein ZC3HAV1 (By similarity). Associates with mitochondrial DNA (PubMed:18063578).

Additional gene information for DHX30 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DHX30 Gene

Genomics for DHX30 Gene

GeneHancer (GH) Regulatory Elements for DHX30 Gene

Promoters and enhancers for DHX30 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I047801 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 563.7 -0.1 -89 2.9 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF207 ZNF143 FOS NFYC DHX30 ZNF589 PTPN23 PTH1R SMARCC1
GH03I047804 Enhancer 0.5 ENCODE 550.8 +1.8 1837 0.2 SMARCE1 GATA3 HLF CEBPB MNT ZBTB33 DHX30 GC03P047821
GH03I047819 Promoter 0.5 EPDnew 550.4 +16.3 16262 0.1 GC03P047821 ENSG00000274420 DHX30 NDUFB1P1 RNU7-128P CDC25A GC03P047842 GC03P047843 GC03P047845 PIR41733
GH03I048085 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 53.1 +285.0 284992 5.3 CLOCK FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 ZNF263 MAP4 ATRIP DHX30 ZNF589 ENSG00000235236 SETD2 PTPN23 TMEM89 KLHL18 ENSG00000260236
GH03I047824 Promoter/Enhancer 1.5 Ensembl ENCODE 25.8 +22.4 22370 2.3 HDGF ARNT ARID4B SIN3A DMAP1 YY1 POLR2B CBX5 ZNF207 ZNF143 DHX30 ZNF589 MIR1226 MAP4 FCF1P2 ELP6 ENSG00000260236 CDC25A ENSG00000274420 PIR41733
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DHX30 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DHX30 gene promoter:

Genomic Locations for DHX30 Gene

Genomic Locations for DHX30 Gene
47,288 bases
Plus strand

Genomic View for DHX30 Gene

Genes around DHX30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DHX30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DHX30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DHX30 Gene

Proteins for DHX30 Gene

  • Protein details for DHX30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Putative ATP-dependent RNA helicase DHX30
    Protein Accession:
    Secondary Accessions:
    • A8K5F1
    • O94965
    • Q7Z753
    • Q96CH4
    • Q9NUQ0

    Protein attributes for DHX30 Gene

    1194 amino acids
    Molecular mass:
    133938 Da
    Quaternary structure:
    • 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). Found in a complex with GRSF1, DDX28, FASTKD2 and FASTKD5 (PubMed:25683715).
    • Sequence=BAA74913.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAA92071.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DHX30 Gene

    Alternative splice isoforms for DHX30 Gene


neXtProt entry for DHX30 Gene

Selected DME Specific Peptides for DHX30 Gene


Post-translational modifications for DHX30 Gene

Domains & Families for DHX30 Gene

Gene Families for DHX30 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for DHX30 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the DEAD box helicase family. DEAH subfamily.
  • Belongs to the DEAD box helicase family. DEAH subfamily.
genes like me logo Genes that share domains with DHX30: view

Function for DHX30 Gene

Molecular function for DHX30 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
Plays an important role in the assembly of the mitochondrial large ribosomal subunit (PubMed:25683715). Required for optimal function of the zinc-finger antiviral protein ZC3HAV1 (By similarity). Associates with mitochondrial DNA (PubMed:18063578).

Enzyme Numbers (IUBMB) for DHX30 Gene

Phenotypes From GWAS Catalog for DHX30 Gene

Gene Ontology (GO) - Molecular Function for DHX30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003682 chromatin binding IDA 18063578
GO:0003723 RNA binding HDA,IEA 22658674
GO:0003725 double-stranded RNA binding IDA 21266579
GO:0004004 ATP-dependent RNA helicase activity IBA --
genes like me logo Genes that share ontologies with DHX30: view
genes like me logo Genes that share phenotypes with DHX30: view

Animal Models for DHX30 Gene

MGI Knock Outs for DHX30:

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DHX30 Gene

Localization for DHX30 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DHX30 Gene

Isoform 2: Cytoplasm.
Isoform 1: Cytoplasm.
Mitochondrion. Cytoplasm. Mitochondrion matrix, mitochondrion nucleoid. Note=Localizes to mitochondrial RNA granules found in close proximity to the mitochondrial nucleoids. {ECO:0000269 PubMed:25683715}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DHX30 gene
Compartment Confidence
mitochondrion 5
cytosol 5
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DHX30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA,IDA --
GO:0005829 cytosol IDA --
GO:0035770 ribonucleoprotein granule IDA 25683715
GO:0042645 mitochondrial nucleoid IEA,IDA 18063578
genes like me logo Genes that share ontologies with DHX30: view

Pathways & Interactions for DHX30 Gene

SuperPathways for DHX30 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DHX30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006396 RNA processing IBA --
GO:0042254 ribosome biogenesis IEA --
GO:1902775 mitochondrial large ribosomal subunit assembly IMP 25683715
genes like me logo Genes that share ontologies with DHX30: view

No data available for Pathways by source and SIGNOR curated interactions for DHX30 Gene

Drugs & Compounds for DHX30 Gene

(3) Drugs for DHX30 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist 0

(1) Additional Compounds for DHX30 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with DHX30: view

Transcripts for DHX30 Gene

Unigene Clusters for DHX30 Gene

DEAH (Asp-Glu-Ala-His) box polypeptide 30:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DHX30 Gene

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: - - - - -
SP7: - - - -
SP8: - - - - -

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

Relevant External Links for DHX30 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DHX30 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DHX30 Gene

Protein differential expression in normal tissues from HIPED for DHX30 Gene

This gene is overexpressed in Bone marrow stromal cell (33.0) and Peripheral blood mononuclear cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DHX30 Gene

Protein tissue co-expression partners for DHX30 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DHX30 Gene:


SOURCE GeneReport for Unigene cluster for DHX30 Gene:


Evidence on tissue expression from TISSUES for DHX30 Gene

  • Nervous system(4.8)
  • Liver(4.3)
  • Skin(3.6)
  • Eye(2.9)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with DHX30: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DHX30 Gene

Orthologs for DHX30 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DHX30 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DHX30 33 34
  • 98.99 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 97 (a)
-- 34
  • 83 (a)
(Canis familiaris)
Mammalia DHX30 33 34
  • 91.74 (n)
(Bos Taurus)
Mammalia DHX30 33 34
  • 91.22 (n)
(Rattus norvegicus)
Mammalia Dhx30 33
  • 90.23 (n)
(Monodelphis domestica)
Mammalia DHX30 34
  • 90 (a)
(Mus musculus)
Mammalia Dhx30 33 16 34
  • 89.15 (n)
(Gallus gallus)
Aves DHX30 33 34
  • 75.21 (n)
(Anolis carolinensis)
Reptilia DHX30 34
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dhx30 33
  • 67.42 (n)
Str.344 33
(Danio rerio)
Actinopterygii dhx30 33
  • 58.56 (n)
DHX30 34
  • 48 (a)
Species where no ortholog for DHX30 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DHX30 Gene

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

Paralogs for DHX30 Gene

Paralogs for DHX30 Gene

(2) SIMAP similar genes for DHX30 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DHX30: view

Variants for DHX30 Gene

Sequence variations from dbSNP and Humsavar for DHX30 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1057519436 pathogenic, Microcephaly, Oculomotor apraxia, Seizures, Short stature, Strabismus, Unsteady gait, NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE 47,846,550(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1060499733 pathogenic, Delayed speech and language development, Global developmental delay, Hearing impairment, Microcephaly, Muscular hypotonia of the trunk, Sleep disturbance, Strabismus, NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE 47,846,757(+) A/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1085307451 pathogenic, not provided, NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE 47,848,246(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs753242774 pathogenic, EEG abnormality, Failure to thrive, Generalized hypotonia, Global developmental delay, Hirsutism, Intellectual disability, Microcephaly, Short stature, NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE 47,848,237(+) C/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, synonymous_variant
rs1000011158 -- 47,836,554(+) TGT/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DHX30 Gene

Variant ID Type Subtype PubMed ID
esv3561844 CNV deletion 23714750
nsv1006560 CNV gain 25217958
nsv10270 CNV gain 18304495
nsv1136722 CNV deletion 24896259
nsv231 CNV insertion 15895083
nsv3808 CNV insertion 18451855
nsv472381 CNV novel sequence insertion 20440878
nsv473806 CNV novel sequence insertion 20440878
nsv508916 CNV insertion 20534489
nsv834679 CNV loss 17160897

Variation tolerance for DHX30 Gene

Residual Variation Intolerance Score: 1.75% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.94; 19.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DHX30 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DHX30 Gene

Disorders for DHX30 Gene

MalaCards: The human disease database

(7) MalaCards diseases for DHX30 Gene - From: OMIM and ClinVar

Disorder Aliases PubMed IDs
neurodevelopmental disorder with severe motor impairment and absent language
  • nedmial
  • strabismus, susceptibility to
mechanical strabismus
  • strabismus
  • microcephalus
visual epilepsy
  • epilepsy, visual
- elite association - COSMIC cancer census association via MalaCards
Search DHX30 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DHX30

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DHX30: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DHX30 Gene

Publications for DHX30 Gene

  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. (PMID: 10048485) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 58
  2. Mitochondrial RNA Granules Are Centers for Posttranscriptional RNA Processing and Ribosome Biogenesis. (PMID: 25683715) Antonicka H … Shoubridge EA (Cell reports 2015) 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. The layered structure of human mitochondrial DNA nucleoids. (PMID: 18063578) Bogenhagen DF … Burke S (The Journal of biological chemistry 2008) 3 4 58
  5. The packaging of human immunodeficiency virus type 1 RNA is restricted by overexpression of an RNA helicase DHX30. (PMID: 18022663) Zhou Y … Liang C (Virology 2008) 2 3 58

Products for DHX30 Gene

Sources for DHX30 Gene

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