DDX20 Gene

HGNC Family	DEAD box polypeptides (DDX)
Name	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n DDX20, also known as DP103 or Gemin3, is a multifunctional DEAD‐box RNA helicase with diverse roles in RNA metabolism. In its canonical function, DDX20 is an integral component of the survival of motor neuron (SMN) complex that mediates the cytoplasmic assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs); indeed, knockdown studies indicate that reduction of Gemin3 (DDX20) disrupts Sm core assembly and that it can exist in distinct SMN‐complex submodules (for example, see."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Beyond its role in snRNP biogenesis, DDX20 functions as a transcriptional corepressor. It interacts with members of the early growth response (Egr) family and with the nuclear receptor steroidogenic factor‐1 (SF‐1) to repress target gene activation. Its repressive activity, which can require histone deacetylase activity in a promoter‐specific manner, has been demonstrated by interaction studies showing that the C‐terminal region of DP103 is sufficient for robust repression."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " In addition, DP103 binds to sumoylated SF‐1 and mediates its regulation, a function that is critical during early embryogenesis and for proper steroidogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Importantly, genetic and expression studies support a role for DDX20 in oncogenesis. A nonsynonymous single nucleotide variant in the GEMIN3 gene has been linked to an increased risk of bladder cancer"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": ", and altered DP103 expression has been implicated in breast cancer metastasis through activation of NF‑κB signaling and consequent upregulation of matrix metallopeptidase 9."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": " Moreover, reduced DDX20 levels in hepatocellular carcinoma have been associated with impaired miRNA‑140 function, leading to enhanced NF‑κB activity and tumorigenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, DDX20 (DP103/Gemin3) serves as a critical hub that links spliceosomal assembly with transcriptional regulation and oncogenic signaling. Its participation in the SMN complex ensures proper snRNP biogenesis, while its interactions with transcription factors such as Egrs and SF‑1 allow it to modulate gene expression. Furthermore, genetic variations and dysregulated expression of DDX20 contribute to cancer susceptibility and progression, underscoring its broad impact on cellular homeostasis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "8"}, {"type": "fg_fs", "start_ref": "1", "end_ref": "3"}, {"type": "fg_f", "ref": "10"}, {"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Karl B Shpargel, A Gregory Matera "}, {"type": "b", "children": [{"type": "t", "text": "Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0508947102"}], "href": "https://doi.org/10.1073/pnas.0508947102"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16301532"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16301532"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Daniel J Battle, Mumtaz Kasim, Jin Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SMN-independent subunits of the SMN complex. Identification of a small nuclear ribonucleoprotein assembly intermediate."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M702317200"}], "href": "https://doi.org/10.1074/jbc.M702317200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17640873"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17640873"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Graeme K Carnegie, Judith E Sleeman, Nick Morrice, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Protein phosphatase 4 interacts with the Survival of Motor Neurons complex and enhances the temporal localisation of snRNPs."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.00409"}], "href": "https://doi.org/10.1242/jcs.00409"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12668731"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12668731"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Le thi Hao, Heidi R Fuller, Le Thanh Lam, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Absence of gemin5 from SMN complexes in nuclear Cajal bodies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Cell Biol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2121-8-28"}], "href": "https://doi.org/10.1186/1471-2121-8-28"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17640370"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17640370"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Anne Lynn Gillian, John Svaren "}, {"type": "b", "children": [{"type": "t", "text": "The Ddx20/DP103 dead box protein represses transcriptional activation by Egr2/Krox-20."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M309308200"}], "href": "https://doi.org/10.1074/jbc.M309308200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14699164"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14699164"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Martin B Lee, Lioudmila A Lebedeva, Miyuki Suzawa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The DEAD-box protein DP103 (Ddx20 or Gemin-3) represses orphan nuclear receptor activity via SUMO modification."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.25.5.1879-1890.2005"}], "href": "https://doi.org/10.1128/MCB.25.5.1879-1890.2005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15713642"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15713642"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Jean-François Mouillet, Xiaomei Yan, Qinglin Ou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DEAD-box protein-103 (DP103, Ddx20) is essential for early embryonic development and modulates ovarian morphology and function."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Endocrinology (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1210/en.2007-1237"}], "href": "https://doi.org/10.1210/en.2007-1237"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18258677"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18258677"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Hushan Yang, Colin P Dinney, Yuanqing Ye, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Evaluation of genetic variants in microRNA-related genes and risk of bladder cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/0008-5472.CAN-07-5991"}], "href": "https://doi.org/10.1158/0008-5472.CAN-07-5991"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18381463"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18381463"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Eun Myoung Shin, Hui Sin Hay, Moon Hee Lee, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DEAD-box helicase DP103 defines metastatic potential of human breast cancers."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI73451"}], "href": "https://doi.org/10.1172/JCI73451"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25083991"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25083991"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Akemi Takata, Motoyuki Otsuka, Takeshi Yoshikawa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MicroRNA-140 acts as a liver tumor suppressor by controlling NF-κB activity by directly targeting DNA methyltransferase 1 (Dnmt1) expression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hepatology (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/hep.26011"}], "href": "https://doi.org/10.1002/hep.26011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22898998"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22898998"}]}]}]}
Synonyms	DP103, GEMIN3
Proteins	DDX20_HUMAN
NCBI Gene ID	11218
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

DDX20 has 6,605 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 120 datasets.

Click the + buttons to view associations for DDX20 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

DDX20 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of DDX20 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of DDX20 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of DDX20 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of DDX20 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of DDX20 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of DDX20 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	Biocarta Pathways	pathways involving DDX20 protein from the Biocarta Pathways dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of DDX20 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of DDX20 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of DDX20 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of DDX20 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with DDX20 protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of DDX20 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of DDX20 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of DDX20 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing DDX20 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing DDX20 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing DDX20 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing DDX20 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with DDX20 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with DDX20 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing DDX20 protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of DDX20 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with DDX20 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with DDX20 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with DDX20 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with DDX20 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DEPOD Substrates of Phosphatases	phosphatases that dephosphorylate DDX20 protein from the curated DEPOD Substrates of Phosphatases dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with DDX20 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with DDX20 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with DDX20 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with DDX20 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with DDX20 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at DDX20 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of DDX20 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of DDX20 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing DDX20 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with DDX20 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with DDX20 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with DDX20 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.