Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	11218
Gene name	DEAD-box helicase 20
Gene symbol	DDX20
Synonyms (NCBI Gene)	DP103GEMIN3
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

Show/Hide all (78)

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

Show/Hide all (53)

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

MIM	HGNC	e!Ensembl
606168	2743	ENSG00000064703

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

Interactions

View interactions

	Reactome
			snRNP Assembly

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)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
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

Show/Hide Text Mining Associations (37)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30786668, 31822699		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	30786668	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Azoospermia	Azoospermia	Pubtator	37116198	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	18381463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23629745, 27121695, 27232533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25083991, 27121695	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32449268	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24676133, 32449268, 36246406	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27121695	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	18381463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	27145460	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	27701053	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31455417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	29095070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	29095070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27121695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	22445758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23629745, 25083991, 27121695, 27232533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27121695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	18381463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24297336, 29523774		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	31822699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	20157854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	10601333, 16301532, 20157854	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	31068947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27121695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	31455417	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	20157854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	20157854	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27121695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27121695	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	10909848, 16301532, 20157854, 29523774		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	LHGDN	16301532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29226993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34290392	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	27145460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	23322153	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

DDX20 (DEAD-box helicase 20)