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... See more...

Aliases for DHX34 Gene

Aliases for DHX34 Gene

  • DExH-Box Helicase 34 2 3 5
  • DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 34 2 3
  • Probable ATP-Dependent RNA Helicase DHX34 3 4
  • DEAH-Box Helicase 34 2 3
  • DEAH Box Protein 34 3 4
  • KIAA0134 2 4
  • DDX34 3 4
  • DEAH (Asp-Glu-Ala-His) Box Polypeptide 34 3
  • Probable ATP-Dependent Helicase DHX34 3
  • EC 3.6.4.13 4
  • EC 3.6.1 51
  • DHX34 5
  • HRH1 3

External Ids for DHX34 Gene

Previous HGNC Symbols for DHX34 Gene

  • DDX34

Previous GeneCards Identifiers for DHX34 Gene

  • GC19P052532
  • GC19P052547
  • GC19P052544
  • GC19P047853
  • GC19P044277

Summaries for DHX34 Gene

Entrez Gene Summary for DHX34 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. This gene encodes a member of this family. It is mapped to the glioma 19q tumor suppressor region and is a tumor suppressor candidate gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for DHX34 Gene

DHX34 (DExH-Box Helicase 34) is a Protein Coding gene. Diseases associated with DHX34 include Pelger-Huet Anomaly and Marshall-Smith Syndrome. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and helicase activity. An important paralog of this gene is DHX57.

UniProtKB/Swiss-Prot Summary for DHX34 Gene

Additional gene information for DHX34 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DHX34 Gene

Genomics for DHX34 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DHX34 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J047348 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 617.8 +0.2 217 2.1 SP1 CREB1 CTCF PRDM10 ZNF629 RFX5 ZNF692 POLR2A JUND ZNF300 DHX34 lnc-MEIS3-1 ZC3H4 ENSG00000268810 BICRA NOP53-AS1 CCDC9 NOP53 SLC1A5 SNORD23
GH19J047352 Promoter 0.7 Ensembl 622 +2.0 1986 0.6 RFX5 NFYA USF2 ZFP69B TBP NFYC RFXANK ZBTB6 HDAC1 CREM DHX34 piR-48928 MEIS3
GH19J047309 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE 65.5 -38.8 -38763 2.8 GATAD2A IKZF1 ZNF692 RXRB PATZ1 REST GABPA CEBPA ZBTB44 CEBPB C5AR1 DHX34 C5AR2 ZC3H4 CCDC9 NAPA piR-38716-072 piR-48389-012 lnc-C5AR1-3
GH19J047312 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE 42.4 -35.8 -35770 1.7 GATAD2A ZBTB33 TFE3 LEF1 IKZF1 NFKBIZ RCOR2 JUND MTA2 ZNF24 DHX34 C5AR2 ZC3H4 C5AR1 BICRA NAPA ENSG00000268810 PPP5C CCDC9 BBC3
GH19J047369 Enhancer 1 FANTOM5 Ensembl ENCODE 57.7 +21.4 21382 2.6 ZIC2 CEBPB FOS PKNOX1 CTCF MAFK SMARCA4 MYC MAX NFE2L2 DHX34 C5AR1 ZC3H4 C5AR2 CCDC9 NAPA NOP53 BICRA HSALNG0126770 piR-48928
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DHX34 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DHX34

Top Transcription factor binding sites by QIAGEN in the DHX34 gene promoter:
  • Msx-1

Genomic Locations for DHX34 Gene

Genomic Locations for DHX34 Gene
chr19:47,349,315-47,382,704
(GRCh38/hg38)
Size:
33,390 bases
Orientation:
Plus strand
chr19:47,852,538-47,885,961
(GRCh37/hg19)
Size:
33,424 bases
Orientation:
Plus strand

Genomic View for DHX34 Gene

Genes around DHX34 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DHX34 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DHX34 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DHX34 Gene

Proteins for DHX34 Gene

  • Protein details for DHX34 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14147-DHX34_HUMAN
    Recommended name:
    Probable ATP-dependent RNA helicase DHX34
    Protein Accession:
    Q14147
    Secondary Accessions:
    • B4DMY8

    Protein attributes for DHX34 Gene

    Size:
    1143 amino acids
    Molecular mass:
    128120 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA09483.2; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=BAG60050.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for DHX34 Gene

Selected DME Specific Peptides for DHX34 Gene

Q14147:
  • GRAGRTGPG
  • VDEVHER
  • ILSTNIAE
  • GDTGCGK
  • VILMSAT
  • TNIAETS

Post-translational modifications for DHX34 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DHX34 Gene

Domains & Families for DHX34 Gene

Gene Families for DHX34 Gene

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

Protein Domains for DHX34 Gene

InterPro:
Blocks:
  • ATP-dependent helicase, DEAH-box
ProtoNet:

Suggested Antigen Peptide Sequences for DHX34 Gene

GenScript: Design optimal peptide antigens:
  • DEAH box protein 34 (DHX34_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14147

UniProtKB/Swiss-Prot:

DHX34_HUMAN :
  • Belongs to the DEAD box helicase family. DEAH subfamily.
Family:
  • Belongs to the DEAD box helicase family. DEAH subfamily.
genes like me logo Genes that share domains with DHX34: view

Function for DHX34 Gene

Molecular function for DHX34 Gene

UniProtKB/Swiss-Prot Function:
Probable ATP-binding RNA helicase.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13;.

Enzyme Numbers (IUBMB) for DHX34 Gene

Phenotypes From GWAS Catalog for DHX34 Gene

Gene Ontology (GO) - Molecular Function for DHX34 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding IBA 21873635
GO:0003724 RNA helicase activity IEA --
GO:0004386 helicase activity IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with DHX34: view
genes like me logo Genes that share phenotypes with DHX34: view

Animal Model Products

CRISPR Products

miRNA for DHX34 Gene

miRTarBase miRNAs that target DHX34

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHX34

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DHX34 Gene

Localization for DHX34 Gene

Subcellular locations from

COMPARTMENTS
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 DHX34 gene
Compartment Confidence
nucleus 4
cytoskeleton 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DHX34 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA 21873635
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with DHX34: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DHX34 Gene

Pathways & Interactions for DHX34 Gene

PathCards logo

SuperPathways for DHX34 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DHX34 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IBA 21873635
GO:0000956 nuclear-transcribed mRNA catabolic process IMP 23828042
GO:2000623 negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IMP 23828042
genes like me logo Genes that share ontologies with DHX34: view

No data available for Pathways by source and SIGNOR curated interactions for DHX34 Gene

Drugs & Compounds for DHX34 Gene

(3) Drugs for DHX34 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, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for DHX34 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with DHX34: view

Transcripts for DHX34 Gene

mRNA/cDNA for DHX34 Gene

2 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHX34

Alternative Splicing Database (ASD) splice patterns (SP) for DHX34 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: - -
SP9: -
SP10:

ExUns: 20 ^ 21 ^ 22 ^ 23
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for DHX34 Gene

GeneLoc Exon Structure for
DHX34

Expression for DHX34 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DHX34 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DHX34 Gene

This gene is overexpressed in Whole Blood (x13.2).

Protein differential expression in normal tissues from HIPED for DHX34 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.3), Salivary gland (9.8), Adrenal (8.6), and Testis (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DHX34 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DHX34

SOURCE GeneReport for Unigene cluster for DHX34 Gene:

Hs.151706

Evidence on tissue expression from TISSUES for DHX34 Gene

  • Lung(4.2)
  • Bone marrow(4.2)
  • Liver(4.1)
  • Nervous system(2.9)
genes like me logo Genes that share expression patterns with DHX34: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DHX34 Gene

Orthologs for DHX34 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DHX34 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DHX34 30 31
  • 99.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DHX34 30 31
  • 87.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DHX34 30 31
  • 87.62 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dhx34 30
  • 84.97 (n)
Mouse
(Mus musculus)
Mammalia Dhx34 30 17 31
  • 84.87 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DHX34 31
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DHX34 31
  • 67 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DHX34 31
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dhx34 30
  • 61.54 (n)
Zebrafish
(Danio rerio)
Actinopterygii dhx34 30 31
  • 62.59 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001338 30
  • 55.16 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG32533 30 31
  • 55.04 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea smgl-2 30 31
  • 48.95 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP2 31
  • 28 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 51 (a)
OneToOne
Species where no ortholog for DHX34 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • 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)
  • 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 Vase (Ciona intestinalis)
  • 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)

Evolution for DHX34 Gene

ENSEMBL:
Gene Tree for DHX34 (if available)
TreeFam:
Gene Tree for DHX34 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DHX34: view image

Paralogs for DHX34 Gene

(6) SIMAP similar genes for DHX34 Gene using alignment to 2 proteins:

  • DHX34_HUMAN
  • H7C504_HUMAN

Pseudogenes.org Pseudogenes for DHX34 Gene

genes like me logo Genes that share paralogs with DHX34: view

Variants for DHX34 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DHX34 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
691940 Likely Pathogenic: Unilateral renal agenesis; Microcephaly; Intellectual disability; Short stature; Neurodevelopmental delay 47,360,017(+) A/G MISSENSE_VARIANT
691941 Likely Pathogenic: Polycystic kidney dysplasia; Intellectual disability; Emphysema; Reduced renal corticomedullary differentiation; Neurodevelopmental delay; Postaxial polydactyly 47,353,496(+) C/T NONSENSE
691942 Likely Pathogenic: Intellectual disability; Seizures; Neurodevelopmental delay 47,375,943(+) G/C MISSENSE_VARIANT
712250 Benign: not provided 47,353,286(+) C/T MISSENSE_VARIANT
712251 Benign: not provided 47,362,591(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for DHX34 Gene

Structural Variations from Database of Genomic Variants (DGV) for DHX34 Gene

Variant ID Type Subtype PubMed ID
esv2758765 CNV loss 17122850
esv3583445 CNV loss 25503493
nsv1062949 CNV gain 25217958
nsv428366 CNV loss 18775914
nsv474520 CNV novel sequence insertion 20440878
nsv474975 CNV novel sequence insertion 20440878
nsv479067 CNV novel sequence insertion 20440878
nsv516890 CNV loss 19592680
nsv517901 CNV loss 19592680
nsv521341 CNV gain 19592680
nsv961229 CNV duplication 23825009
nsv9738 CNV gain 18304495

Variation tolerance for DHX34 Gene

Residual Variation Intolerance Score: 45.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.48; 77.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DHX34 Gene

Human Gene Mutation Database (HGMD)
DHX34
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DHX34

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DHX34 Gene

Disorders for DHX34 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DHX34 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pelger-huet anomaly
  • pha
marshall-smith syndrome
  • mss
- elite association - COSMIC cancer census association via MalaCards
Search DHX34 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DHX34

genes like me logo Genes that share disorders with DHX34: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DHX34 Gene

Publications for DHX34 Gene

  1. Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 8590280) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1995) 2 3 4
  2. A transcript map of the chromosome 19q-arm glioma tumor suppressor region. (PMID: 10708517) Smith JS … Jenkins RB (Genomics 2000) 2 3
  3. PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling. (PMID: 31091453) Shami Shah A … Baskin JM (Cell reports 2019) 3
  4. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. (PMID: 31256877) Paine I … Lupski JR (American journal of human genetics 2019) 3
  5. Proteomic profiling of VCP substrates links VCP to K6-linked ubiquitylation and c-Myc function. (PMID: 29467282) Heidelberger JB … Beli P (EMBO reports 2018) 3

Products for DHX34 Gene

Sources for DHX34 Gene