DDX20 (DEAD-box helicase 20)

Gene

• Entrez ID: 11218
• Gene name: DEAD-box helicase 20
• Gene symbol: DDX20
• Synonyms (NCBI Gene): DP103, GEMIN3
• Chromosome: 1
• Chromosome location: 1p13.2
• Summary: 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 m

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051902	hsa-let-7b-5p	CLASH	23622248
MIRT043191	hsa-miR-324-5p	CLASH	23622248
MIRT039368	hsa-miR-421	CLASH	23622248
MIRT569383	hsa-miR-3123	PAR-CLIP	20371350
MIRT569382	hsa-miR-4267	PAR-CLIP	20371350
MIRT569381	hsa-miR-6512-3p	PAR-CLIP	20371350
MIRT569380	hsa-miR-6720-5p	PAR-CLIP	20371350
MIRT569379	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT569383	hsa-miR-3123	PAR-CLIP	20371350
MIRT569382	hsa-miR-4267	PAR-CLIP	20371350
MIRT569381	hsa-miR-6512-3p	PAR-CLIP	20371350
MIRT569380	hsa-miR-6720-5p	PAR-CLIP	20371350
MIRT569379	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT930097	hsa-miR-1284	CLIP-seq
MIRT930098	hsa-miR-3144-3p	CLIP-seq
MIRT930099	hsa-miR-323-5p	CLIP-seq
MIRT930100	hsa-miR-361-5p	CLIP-seq
MIRT930101	hsa-miR-3646	CLIP-seq
MIRT930102	hsa-miR-3662	CLIP-seq
MIRT930103	hsa-miR-3942-5p	CLIP-seq
MIRT930104	hsa-miR-4252	CLIP-seq
MIRT930105	hsa-miR-4699-5p	CLIP-seq
MIRT930106	hsa-miR-4703-5p	CLIP-seq
MIRT930107	hsa-miR-4762-5p	CLIP-seq
MIRT930108	hsa-miR-4789-5p	CLIP-seq
MIRT930109	hsa-miR-548c-3p	CLIP-seq
MIRT930110	hsa-miR-619	CLIP-seq
MIRT930111	hsa-miR-875-5p	CLIP-seq
MIRT930112	hsa-miR-876-3p	CLIP-seq
MIRT1975321	hsa-miR-1305	CLIP-seq
MIRT1975322	hsa-miR-3065-5p	CLIP-seq
MIRT1975323	hsa-miR-3074-5p	CLIP-seq
MIRT1975324	hsa-miR-3133	CLIP-seq
MIRT1975325	hsa-miR-3620	CLIP-seq
MIRT1975326	hsa-miR-3667-3p	CLIP-seq
MIRT1975327	hsa-miR-4722-3p	CLIP-seq
MIRT1975328	hsa-miR-4738-3p	CLIP-seq
MIRT1975329	hsa-miR-548aa	CLIP-seq
MIRT2210731	hsa-miR-1264	CLIP-seq
MIRT930097	hsa-miR-1284	CLIP-seq
MIRT2210732	hsa-miR-1297	CLIP-seq
MIRT1975321	hsa-miR-1305	CLIP-seq
MIRT2210733	hsa-miR-151-5p	CLIP-seq
MIRT2210734	hsa-miR-151b	CLIP-seq
MIRT2210735	hsa-miR-2392	CLIP-seq
MIRT2210736	hsa-miR-26a	CLIP-seq
MIRT2210737	hsa-miR-26b	CLIP-seq
MIRT2210738	hsa-miR-3131	CLIP-seq
MIRT2210739	hsa-miR-3134	CLIP-seq
MIRT2210740	hsa-miR-3201	CLIP-seq
MIRT2210741	hsa-miR-3605-5p	CLIP-seq
MIRT930100	hsa-miR-361-5p	CLIP-seq
MIRT2210742	hsa-miR-3978	CLIP-seq
MIRT930104	hsa-miR-4252	CLIP-seq
MIRT2210743	hsa-miR-4432	CLIP-seq
MIRT2210744	hsa-miR-4465	CLIP-seq
MIRT930108	hsa-miR-4789-5p	CLIP-seq
MIRT2210745	hsa-miR-4791	CLIP-seq
MIRT2210746	hsa-miR-498	CLIP-seq
MIRT2210747	hsa-miR-548m	CLIP-seq
MIRT2210748	hsa-miR-548u	CLIP-seq
MIRT2210749	hsa-miR-579	CLIP-seq
MIRT2210750	hsa-miR-611	CLIP-seq
MIRT1975321	hsa-miR-1305	CLIP-seq
MIRT1975322	hsa-miR-3065-5p	CLIP-seq
MIRT2514706	hsa-miR-4502	CLIP-seq
MIRT2514707	hsa-miR-4670-3p	CLIP-seq
MIRT1975328	hsa-miR-4738-3p	CLIP-seq
MIRT1975321	hsa-miR-1305	CLIP-seq
MIRT2679149	hsa-miR-186	CLIP-seq
MIRT1975322	hsa-miR-3065-5p	CLIP-seq
MIRT1975324	hsa-miR-3133	CLIP-seq
MIRT930101	hsa-miR-3646	CLIP-seq
MIRT930102	hsa-miR-3662	CLIP-seq
MIRT2514706	hsa-miR-4502	CLIP-seq
MIRT2514707	hsa-miR-4670-3p	CLIP-seq
MIRT1975328	hsa-miR-4738-3p	CLIP-seq
MIRT930109	hsa-miR-548c-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	12007404
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0000244	Process	Spliceosomal tri-snRNP complex assembly	TAS	10601333
GO:0000387	Process	Spliceosomal snRNP assembly	EXP	12067652
GO:0000387	Process	Spliceosomal snRNP assembly	IBA
GO:0000387	Process	Spliceosomal snRNP assembly	IDA	18984161
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003724	Function	RNA helicase activity	IBA
GO:0003724	Function	RNA helicase activity	IEA
GO:0003724	Function	RNA helicase activity	TAS	10383418
GO:0003729	Function	MRNA binding	IBA
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	11714716, 17178713, 19750007, 19928837, 21072240, 21800163, 23752268, 24981860, 28514442, 32296183, 32814053, 33961781, 35156780, 35271311, 36012204
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	10383418
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	10601333
GO:0005829	Component	Cytosol	IDA	18984161, 20513430
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	TAS	10383418
GO:0006396	Process	RNA processing	TAS	10601333
GO:0006397	Process	MRNA processing	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016604	Component	Nuclear body	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0017053	Component	Transcription repressor complex	IEA
GO:0017111	Function	Ribonucleoside triphosphate phosphatase activity	IEA
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IEA
GO:0032797	Component	SMN complex	IBA
GO:0032797	Component	SMN complex	IDA	17178713, 18984161
GO:0032797	Component	SMN complex	IPI	17178713
GO:0032991	Component	Protein-containing complex	IEA
GO:0034719	Component	SMN-Sm protein complex	IDA	18984161
GO:0042826	Function	Histone deacetylase binding	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IGI	16153597
GO:0043065	Process	Positive regulation of apoptotic process	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0048477	Process	Oogenesis	IEA
GO:0050810	Process	Regulation of steroid biosynthetic process	IEA
GO:0090571	Component	RNA polymerase II transcription repressor complex	IEA
GO:0097504	Component	Gemini of Cajal bodies	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	12007404

Other IDs

• MIM: 606168
• HGNC: 2743
• e!Ensembl: ENSG00000064703

Protein

• UniProt ID: Q9UHI6
• Protein name: Probable ATP-dependent RNA helicase DDX20 (EC 3.6.1.15) (EC 3.6.4.13) (Component of gems 3) (DEAD box protein 20) (DEAD box protein DP 103) (Gemin-3)
• Protein function: The SMN complex catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and thereby plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set
• PDB: 2OXC, 3B7G
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00270	DEAD	86 → 253	DEAD/DEAH box helicase	Domain
  PF00271	Helicase_C	295 → 404	Helicase conserved C-terminal domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous.
• Sequence:

  MAAAFEASGALAAVATAMPAEHVAVQVPAPEPTPGPVRILRTAQDLSSPRTRTGDVLLAE
  PADFESLLLSRPVLEGLRAAGFERPSPVQLKAIPLGRCGLDLIVQAKSGTGKTCVFSTIA
  LDSLVLENLSTQILILAPTREIAVQIHSVITAIGIKMEGLECHVFIGGTPLSQDKTRLKK
  CHIAVGSPGRIKQLIELDYLNPGSIRLFILDEADKLLEEGSFQEQINWIYSSLPASKQML
  AVSATYPEFLANALTKYMRDPTFVRLNSSDPSLIGLKQYYKVVNSYPLAHKVFEEKTQHL
  QELFSRIPFNQALVFSNLHSRAQHLADILSSKGFPAECISGNMNQNQRLDAMAKLKHFHC
  RVLISTDLTSRGIDAEKVNLVVNLDVPLDWETYMHRIGRAGRFGTLGLTVTYCCRGEEEN
  MMMRIAQKCNINLLPLPDPIPSGLMEECVDWDVEVKAAVHTYGIASVPNQPLKKQIQKIE
  RTLQIQKAHGDHMASSRNNSVSGLSVKSKNNTKQKLPVKSHSECGIIEKATSPKELGCDR
  QSEEQMKNSVQTPVENSTNSQHQVKEALPVSLPQIPCLSSFKIHQPYTLTFAELVEDYEH
  YIKEGLEKPVEIIRHYTGPGDQTVNPQNGFVRNKVIEQRVPVLASSSQSGDSESDSDSYS
  SRTSSQSKGNKSYLEGSSDNQLKDSESTPVDDRISLEQPPNGSDTPNPEKYQESPGIQMK
  TRLKEGASQRAKQSRRNLPRRSSFRLQTEAQEDDWYDCHREIRLSFSDTYQDYEEYWRAY
  YRAWQEYYAAASHSYYWNAQRHPSWMAAYHMNTIYLQEMMHSNQ

• Sequence length: 824

Pathways

Reactome:

snRNP Assembly

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Amyotrophic lateral sclerosis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Adenocarcinoma	Associate	28074552	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Associate	30786668	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Azoospermia	Associate	37116198	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	25083991, 27121695	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	32449268	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	24676133, 32449268, 36246406	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Inhibit	27121695	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Associate	27145460	★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Associate	27701053	★☆☆☆☆ Found in Text Mining only
Lymphoma AIDS Related	Associate	27701053	★☆☆☆☆ Found in Text Mining only
Lymphoma B Cell	Associate	22174681	★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Associate	10601333, 16301532, 20157854	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	25083991	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	23322153, 27121695, 36246406	★☆☆☆☆ Found in Text Mining only
Non Muscle Invasive Bladder Neoplasms	Associate	23322153	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Associate	31455417	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Associate	20157854	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Stimulate	27121695	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	34290392	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Associate	23322153	★☆☆☆☆ Found in Text Mining only