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 DDX50 Gene

Aliases for DDX50 Gene

  • DExD-Box Helicase 50 2 3 5
  • DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 50 2 3
  • ATP-Dependent RNA Helicase DDX50 3 4
  • DEAD-Box Helicase 50 2 3
  • DEAD Box Protein 50 3 4
  • RH-II/GuB 2 3
  • Gu-Beta 3 4
  • GU2 2 3
  • GUB 2 3
  • Malignant Cell Derived RNA Helicase 3
  • RNA Helicase II/Gu Beta 3
  • Nucleolar Protein GU2 3
  • Nucleolar Protein Gu2 4
  • EC 3.6.4.13 4
  • EC 3.6.1 51
  • MGC3199 2
  • Mcdrh 3
  • DDX50 5

External Ids for DDX50 Gene

Previous GeneCards Identifiers for DDX50 Gene

  • GC10P070553
  • GC10P070005
  • GC10P070331
  • GC10P070661
  • GC10P064662

Summaries for DDX50 Gene

Entrez Gene Summary for DDX50 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 DEAD box enzyme that may be involved in ribosomal RNA synthesis or processing. This gene and DDX21, also called RH-II/GuA, have similar genomic structures and are in tandem orientation on chromosome 10, suggesting that the two genes arose by gene duplication in evolution. This gene has pseudogenes on chromosomes 2, 3 and 4. Alternative splicing of this gene generates multiple transcript variants, but the full length nature of all the other variants but one has not been defined. [provided by RefSeq, Jul 2008]

GeneCards Summary for DDX50 Gene

DDX50 (DExD-Box Helicase 50) is a Protein Coding gene. Diseases associated with DDX50 include Zika Virus Congenital Syndrome. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is DDX21.

Gene Wiki entry for DDX50 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DDX50 Gene

Genomics for DDX50 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DDX50 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
GH10J068899 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +2.4 2370 3.6 RNF2 SP1 HNRNPL CREB1 GATAD2A PRDM10 REST ZNF629 TFE3 NFKBIZ DDX50 lnc-SLC25A16-5 piR-38995 KIFBP ENSG00000285871 HE856190 DDX21
GH10J068897 Enhancer 0.9 Ensembl ENCODE 600.7 -1.3 -1264 0.7 GATAD2A CTCF JUND RXRB REST RAD21 GATAD2B ZNF561 ZBTB44 MGA DDX50 ENSG00000285871 piR-39898 STOX1 KIFBP
GH10J069179 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 75.5 +281.8 281836 3.3 RNF2 SP1 CREB1 GATAD2A ATF7 REST ZNF629 TFE3 RFX1 SIX5 SUPV3L1 CCAR1 DDX50 HNRNPH3 SAR1A TYSND1 DDX21 RPL26P27 VPS26A HKDC1
GH10J068559 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 46.8 -337.0 -336966 4.3 ARHGAP35 SP1 GATAD2A TEAD4 PRDM10 ZNF629 ZNF512 LEF1 IKZF1 KDM1A TET1 CCAR1 DDX50 HERC4 HNRNPH3 SIRT1 DNA2 RPL26P27 ATOH7 piR-50443-044
GH10J068898 Enhancer 0.2 Ensembl 600.7 +0.1 84 0.2 DDX50 ENSG00000285871 piR-38995 piR-39898 DDX21
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DDX50 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DDX50

Top Transcription factor binding sites by QIAGEN in the DDX50 gene promoter:
  • aMEF-2
  • HOXA9
  • HOXA9B
  • MAZR
  • MEF-2A
  • Meis-1
  • Meis-1a
  • N-Myc
  • p53
  • POU3F2

Genomic Locations for DDX50 Gene

Genomic Locations for DDX50 Gene
chr10:68,898,817-68,956,312
(GRCh38/hg38)
Size:
57,496 bases
Orientation:
Plus strand
chr10:70,661,034-70,706,603
(GRCh37/hg19)
Size:
45,570 bases
Orientation:
Plus strand

Genomic View for DDX50 Gene

Genes around DDX50 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDX50 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDX50 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDX50 Gene

Proteins for DDX50 Gene

  • Protein details for DDX50 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQ39-DDX50_HUMAN
    Recommended name:
    ATP-dependent RNA helicase DDX50
    Protein Accession:
    Q9BQ39
    Secondary Accessions:
    • Q5VX37
    • Q8WV76
    • Q9BWI8

    Protein attributes for DDX50 Gene

    Size:
    737 amino acids
    Molecular mass:
    82565 Da
    Quaternary structure:
    • Interacts with C1QBP.

    Three dimensional structures from OCA and Proteopedia for DDX50 Gene

neXtProt entry for DDX50 Gene

Selected DME Specific Peptides for DDX50 Gene

Q9BQ39:
  • VAARGLDI
  • VGTPGRI
  • HVVLDEVDQMLD
  • YIHRSGRT
  • ILVGTPGR
  • AARGLDIP
  • SFAIPLIE
  • LAPTREL
  • GRTGRAG
  • VAKKYMKS
  • TNVAARGLD
  • APTRELA
  • DSEDNPQTLLFSATCP
  • EQKEGAFSNF

Post-translational modifications for DDX50 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for DDX50 Gene

Gene Families for DDX50 Gene

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

Suggested Antigen Peptide Sequences for DDX50 Gene

GenScript: Design optimal peptide antigens:
  • Nucleolar protein Gu2 (DDX50_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BQ39

UniProtKB/Swiss-Prot:

DDX50_HUMAN :
  • Belongs to the DEAD box helicase family. DDX21/DDX50 subfamily.
Family:
  • Belongs to the DEAD box helicase family. DDX21/DDX50 subfamily.
genes like me logo Genes that share domains with DDX50: view

Function for DDX50 Gene

Molecular function for DDX50 Gene

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 DDX50 Gene

Phenotypes From GWAS Catalog for DDX50 Gene

Gene Ontology (GO) - Molecular Function for DDX50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,IBA 21873635
GO:0003724 RNA helicase activity IBA 21873635
GO:0004386 helicase activity IEA --
genes like me logo Genes that share ontologies with DDX50: view
genes like me logo Genes that share phenotypes with DDX50: view

Animal Model Products

  • Taconic Biosciences Mouse Models for DDX50

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDX50

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DDX50 Gene

Localization for DDX50 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDX50 Gene

Nucleus, nucleolus.

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 DDX50 gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DDX50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IDA --
GO:0005886 plasma membrane IDA --
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with DDX50: view

Pathways & Interactions for DDX50 Gene

PathCards logo

SuperPathways for DDX50 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DDX50 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DDX50 Gene

Drugs & Compounds for DDX50 Gene

(3) Drugs for DDX50 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 DDX50 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 DDX50: view

Transcripts for DDX50 Gene

mRNA/cDNA for DDX50 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
6 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 DDX50

Alternative Splicing Database (ASD) splice patterns (SP) for DDX50 Gene

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

Relevant External Links for DDX50 Gene

GeneLoc Exon Structure for
DDX50

Expression for DDX50 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DDX50 Gene

Protein differential expression in normal tissues from HIPED for DDX50 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.9) and Stomach (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DDX50 Gene



Protein tissue co-expression partners for DDX50 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DDX50

SOURCE GeneReport for Unigene cluster for DDX50 Gene:

Hs.522984

Evidence on tissue expression from TISSUES for DDX50 Gene

  • Skin(4.4)
  • Eye(4.2)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with DDX50: 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 DDX50 Gene

Orthologs for DDX50 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DDX50 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DDX50 30 31
  • 99.91 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DDX50 30 31
  • 95.65 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DDX50 30 31
  • 94.84 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ddx50 30 17 31
  • 92.74 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ddx50 30
  • 92.3 (n)
Oppossum
(Monodelphis domestica)
Mammalia DDX50 31
  • 79 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DDX50 31
  • 57 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 63 (a)
ManyToMany
-- 31
  • 61 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 52 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.6015 30
Zebrafish
(Danio rerio)
Actinopterygii ddx21 31
  • 49 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TIF1 31
  • 32 (a)
ManyToMany
TIF2 31
  • 32 (a)
ManyToMany
DBP3 31
  • 31 (a)
ManyToMany
MRH4 33
Thale Cress
(Arabidopsis thaliana)
eudicotyledons emb1138 30
  • 49.73 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7087 30
Rice
(Oryza sativa)
Liliopsida Os03g0827700 30
  • 51.26 (n)
Corn
(Zea mays)
Liliopsida Zm.12927 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2984 31
  • 47 (a)
OneToMany
Species where no ortholog for DDX50 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • 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 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for DDX50 Gene

ENSEMBL:
Gene Tree for DDX50 (if available)
TreeFam:
Gene Tree for DDX50 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DDX50: view image

Paralogs for DDX50 Gene

(6) SIMAP similar genes for DDX50 Gene using alignment to 3 proteins:

  • DDX50_HUMAN
  • S4R3G6_HUMAN
  • S4R3V4_HUMAN

Pseudogenes.org Pseudogenes for DDX50 Gene

genes like me logo Genes that share paralogs with DDX50: view

Variants for DDX50 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DDX50 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
710605 Benign: not provided 68,913,239(+) C/T SYNONYMOUS_VARIANT
717161 Benign: not provided 68,946,391(+) G/A MISSENSE_VARIANT
rs374203626 Uncertain Significance: Malignant tumor of prostate 68,906,745(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for DDX50 Gene

Structural Variations from Database of Genomic Variants (DGV) for DDX50 Gene

Variant ID Type Subtype PubMed ID
esv2579637 CNV insertion 19546169
nsv519999 CNV loss 19592680
nsv831907 CNV gain 17160897

Variation tolerance for DDX50 Gene

Residual Variation Intolerance Score: 13.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.52; 44.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DDX50 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDX50

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDX50 Gene

Disorders for DDX50 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DDX50 Gene - From: DISEASES

Disorder Aliases PubMed IDs
zika virus congenital syndrome
  • zikv congenital infection
- elite association - COSMIC cancer census association via MalaCards
Search DDX50 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DDX50

genes like me logo Genes that share disorders with DDX50: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DDX50 Gene

Publications for DDX50 Gene

  1. Genomic structure of newly identified paralogue of RNA helicase II/Gu: detection of pseudogenes and multiple alternatively spliced mRNAs. (PMID: 11891046) Valdez BC … Sequitin AM (Gene 2002) 2 3 4 23
  2. Solution structure of the GUCT domain from human RNA helicase II/Gu beta reveals the RRM fold, but implausible RNA interactions. (PMID: 18615715) Ohnishi S … Yokoyama S (Proteins 2009) 3 4 23
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Functional proteomic analysis of human nucleolus. (PMID: 12429849) Scherl A … Diaz JJ (Molecular biology of the cell 2002) 3 4
  5. Proteomic Analysis Reveals a Role for RSK in p120-catenin Phosphorylation and Melanoma Cell-Cell Adhesion. (PMID: 31678930) Méant A … Roux PP (Molecular & cellular proteomics : MCP 2020) 3

Products for DDX50 Gene

  • Signalway Proteins for DDX50

Sources for DDX50 Gene