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 fami... See more...

Aliases for DDX20 Gene

Aliases for DDX20 Gene

  • DEAD-Box Helicase 20 2 3 5
  • GEMIN3 2 3 4
  • DP103 2 3 4
  • DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 20, 103kD 2 3
  • DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 20 2 3
  • Probable ATP-Dependent RNA Helicase DDX20 3 4
  • DEAD Box Protein DP 103 3 4
  • DEAD Box Protein 20 3 4
  • Component Of Gems 3 3 4
  • Gemin-3 3 4
  • SMN-Interacting Protein 3
  • DEAD-Box Protein DP103 3
  • EC 3.6.4.13 4
  • DDX20 5

External Ids for DDX20 Gene

Previous GeneCards Identifiers for DDX20 Gene

  • GC01P112714
  • GC01P111169
  • GC01P111400
  • GC01P111596
  • GC01P112010
  • GC01P112298
  • GC01P110169

Summaries for DDX20 Gene

Entrez Gene Summary for DDX20 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 family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which has an ATPase activity and is a component of the survival of motor neurons (SMN) complex. This protein interacts directly with SMN, the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs. [provided by RefSeq, Jul 2008]

GeneCards Summary for DDX20 Gene

DDX20 (DEAD-Box Helicase 20) is a Protein Coding gene. Diseases associated with DDX20 include Spinal Muscular Atrophy and Muscular Atrophy. Among its related pathways are Transport of the SLBP independent Mature mRNA and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and ATP-dependent RNA helicase activity. An important paralog of this gene is DDX10.

UniProtKB/Swiss-Prot Summary for DDX20 Gene

  • The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs).

Gene Wiki entry for DDX20 Gene

Additional gene information for DDX20 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DDX20 Gene

Genomics for DDX20 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DDX20 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DDX20 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DDX20

Top Transcription factor binding sites by QIAGEN in the DDX20 gene promoter:
  • CHOP-10
  • CUTL1
  • FOXI1
  • HFH-3
  • Meis-1
  • Meis-1a
  • Meis-1b
  • MIF-1
  • p300
  • Pbx1a

Genomic Locations for DDX20 Gene

Genomic Locations for DDX20 Gene
chr1:111,755,245-111,768,000
(GRCh38/hg38)
Size:
12,756 bases
Orientation:
Plus strand
chr1:112,297,867-112,310,638
(GRCh37/hg19)
Size:
12,772 bases
Orientation:
Plus strand

Genomic View for DDX20 Gene

Genes around DDX20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDX20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDX20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDX20 Gene

Proteins for DDX20 Gene

  • Protein details for DDX20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHI6-DDX20_HUMAN
    Recommended name:
    Probable ATP-dependent RNA helicase DDX20
    Protein Accession:
    Q9UHI6
    Secondary Accessions:
    • B4DWV7
    • Q96F72
    • Q9NVM3
    • Q9UF59
    • Q9UIY0
    • Q9Y659

    Protein attributes for DDX20 Gene

    Size:
    824 amino acids
    Molecular mass:
    92241 Da
    Quaternary structure:
    • Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG. Interacts directly with GEMIN5. Interacts directly with SNUPN. Interacts with PPP4R2. Interacts with FOXL2. Interacts with EBV EBNA2 and EBNA3C. Interacts with NANOS1 and PUM2.

    Three dimensional structures from OCA and Proteopedia for DDX20 Gene

    Alternative splice isoforms for DDX20 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDX20 Gene

Post-translational modifications for DDX20 Gene

  • Ubiquitination at Lys91, Lys192, Lys332, and Lys487
  • Modification sites at PhosphoSitePlus

Other Protein References for DDX20 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DDX20 Gene

Domains & Families for DDX20 Gene

Gene Families for DDX20 Gene

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

Protein Domains for DDX20 Gene

Suggested Antigen Peptide Sequences for DDX20 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50269, highly similar to Probable ATP-dependent RNA helicase DDX20 (EC 3.6.1.-) (B4DWV7_HUMAN)
  • Gemin-3 (DDX20_HUMAN)
  • DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (Q8IYV2_HUMAN)
  • DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (Q8NEH0_HUMAN)
  • DEAD-box corepressor DP103 (Q8TDR3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UHI6

UniProtKB/Swiss-Prot:

DDX20_HUMAN :
  • Belongs to the DEAD box helicase family. DDX20 subfamily.
Family:
  • Belongs to the DEAD box helicase family. DDX20 subfamily.
genes like me logo Genes that share domains with DDX20: view

Function for DDX20 Gene

Molecular function for DDX20 Gene

UniProtKB/Swiss-Prot Function:
The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs).
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 DDX20 Gene

Phenotypes From GWAS Catalog for DDX20 Gene

Gene Ontology (GO) - Molecular Function for DDX20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding IBA 21873635
GO:0003724 RNA helicase activity TAS,IBA 21873635
genes like me logo Genes that share ontologies with DDX20: view
genes like me logo Genes that share phenotypes with DDX20: view

Animal Models for DDX20 Gene

MGI Knock Outs for DDX20:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDX20

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DDX20 Gene

Localization for DDX20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDX20 Gene

Cytoplasm. Nucleus, gem. Note=Localized in subnuclear structures next to coiled bodies, called Gemini of Cajal bodies (Gems).

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 DDX20 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 4
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DDX20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 10383418
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm TAS,IBA 21873635
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton TAS 10383418
genes like me logo Genes that share ontologies with DDX20: view

Pathways & Interactions for DDX20 Gene

genes like me logo Genes that share pathways with DDX20: view

Pathways by source for DDX20 Gene

1 BioSystems pathway for DDX20 Gene
3 Reactome pathways for DDX20 Gene
1 KEGG pathway for DDX20 Gene
1 Qiagen pathway for DDX20 Gene
  • Macrophage Differentiation and Growth Inhibition by METS

SIGNOR curated interactions for DDX20 Gene

Activates:

Gene Ontology (GO) - Biological Process for DDX20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA,IDA 12007404
GO:0000244 spliceosomal tri-snRNP complex assembly TAS 10601333
GO:0000387 spliceosomal snRNP assembly IBA,TAS --
GO:0006396 RNA processing TAS 10601333
GO:0006397 mRNA processing IEA --
genes like me logo Genes that share ontologies with DDX20: view

Drugs & Compounds for DDX20 Gene

(3) Drugs for DDX20 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 DDX20 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 DDX20: view

Transcripts for DDX20 Gene

mRNA/cDNA for DDX20 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 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 DDX20

Alternative Splicing Database (ASD) splice patterns (SP) for DDX20 Gene

No ASD Table

Relevant External Links for DDX20 Gene

GeneLoc Exon Structure for
DDX20

Expression for DDX20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DDX20 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DDX20 Gene

This gene is overexpressed in Testis (x8.6).

Protein differential expression in normal tissues from HIPED for DDX20 Gene

This gene is overexpressed in Bone (43.6) and Testis (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DDX20 Gene



Protein tissue co-expression partners for DDX20 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DDX20

SOURCE GeneReport for Unigene cluster for DDX20 Gene:

Hs.591405

mRNA Expression by UniProt/SwissProt for DDX20 Gene:

Q9UHI6-DDX20_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for DDX20 Gene

  • Nervous system(3.4)
  • Muscle(2.2)
  • Kidney(2.1)
  • Blood(2)
genes like me logo Genes that share expression patterns with DDX20: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DDX20 Gene

Orthologs for DDX20 Gene

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

Orthologs for DDX20 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DDX20 30 31
  • 99.5 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DDX20 30 31
  • 89.11 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DDX20 30 31
  • 89.01 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ddx20 30
  • 84.81 (n)
Mouse
(Mus musculus)
Mammalia Ddx20 30 17 31
  • 84.47 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DDX20 31
  • 71 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DDX20 31
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DDX20 30 31
  • 66.94 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DDX20 31
  • 58 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ddx20 30
  • 66.42 (n)
Str.10125 30
Zebrafish
(Danio rerio)
Actinopterygii ddx20 30 31
  • 63.26 (n)
OneToOne
wufc03g10 30
Fruit Fly
(Drosophila melanogaster)
Insecta Dhh1 32
  • 30 (a)
Gem3 31
  • 16 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea T06A10.1 32
  • 40 (a)
mel-46 31
  • 17 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SUB2 31
  • 28 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 58 (a)
OneToOne
Species where no ortholog for DDX20 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)
  • 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)
  • 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 DDX20 Gene

ENSEMBL:
Gene Tree for DDX20 (if available)
TreeFam:
Gene Tree for DDX20 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DDX20: view image

Paralogs for DDX20 Gene

(9) SIMAP similar genes for DDX20 Gene using alignment to 6 proteins:

  • DDX20_HUMAN
  • B4DWV7_HUMAN
  • E9PJ60_HUMAN
  • Q8IYV2_HUMAN
  • Q8NEH0_HUMAN
  • Q8TDR3_HUMAN

Pseudogenes.org Pseudogenes for DDX20 Gene

genes like me logo Genes that share paralogs with DDX20: view

Variants for DDX20 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DDX20 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
721089 Likely Benign: not provided 111,759,413(+) C/G MISSENSE_VARIANT
784955 Benign: not provided 111,766,199(+) C/A MISSENSE_VARIANT
rs197412 - p.Ile636Thr
rs197414 - p.Arg693Ser
rs85276 - p.Ile762Thr

Additional dbSNP identifiers (rs#s) for DDX20 Gene

Variation tolerance for DDX20 Gene

Residual Variation Intolerance Score: 50.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.30; 92.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DDX20 Gene

Human Gene Mutation Database (HGMD)
DDX20
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDX20

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for DDX20 Gene

Disorders for DDX20 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DDX20 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spinal muscular atrophy
  • progressive muscular atrophy
muscular atrophy
  • amyotrophia
- elite association - COSMIC cancer census association via MalaCards
Search DDX20 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DDX20

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DDX20: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DDX20 Gene

Publications for DDX20 Gene

  1. Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems. (PMID: 10601333) Charroux B … Dreyfuss G (The Journal of cell biology 1999) 3 4 23
  2. Characterization of DP103, a novel DEAD box protein that binds to the Epstein-Barr virus nuclear proteins EBNA2 and EBNA3C. (PMID: 10383418) Grundhoff AT … Grässer FA (The Journal of biological chemistry 1999) 2 3 4
  3. NANOS1 and PUMILIO2 bind microRNA biogenesis factor GEMIN3, within chromatoid body in human germ cells. (PMID: 21800163) Ginter-Matuszewska B … Jaruzelska J (Histochemistry and cell biology 2011) 3 4
  4. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PMID: 20819778) Zhang X … Wu X (Carcinogenesis 2010) 3 41
  5. Genetic variations in microRNA-related genes are associated with survival and recurrence in patients with renal cell carcinoma. (PMID: 20732906) Lin J … Wu X (Carcinogenesis 2010) 3 41

Products for DDX20 Gene

  • Signalway ELISA kits for DDX20

Sources for DDX20 Gene