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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	54514
Gene name	DEAD-box helicase 4
Gene symbol	DDX4
Synonyms (NCBI Gene)	VASA
Chromosome	5
Chromosome location	5q11.2
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 (34)

miRTarBase ID	miRNA	Experiments	Reference
MIRT452487	hsa-miR-5580-3p	PAR-CLIP	23592263
MIRT452486	hsa-miR-4464	PAR-CLIP	23592263
MIRT452485	hsa-miR-4748	PAR-CLIP	23592263
MIRT452484	hsa-miR-455-5p	PAR-CLIP	23592263
MIRT452483	hsa-miR-5003-5p	PAR-CLIP	23592263
MIRT452482	hsa-miR-3665	PAR-CLIP	23592263
MIRT452481	hsa-miR-657	PAR-CLIP	23592263
MIRT452480	hsa-miR-5087	PAR-CLIP	23592263
MIRT452479	hsa-miR-1227-3p	PAR-CLIP	23592263
MIRT452478	hsa-miR-8068	PAR-CLIP	23592263
MIRT452477	hsa-miR-4666a-5p	PAR-CLIP	23592263
MIRT452476	hsa-miR-3924	PAR-CLIP	23592263
MIRT452487	hsa-miR-5580-3p	PAR-CLIP	23592263
MIRT452486	hsa-miR-4464	PAR-CLIP	23592263
MIRT452485	hsa-miR-4748	PAR-CLIP	23592263
MIRT452484	hsa-miR-455-5p	PAR-CLIP	23592263
MIRT452483	hsa-miR-5003-5p	PAR-CLIP	23592263
MIRT452482	hsa-miR-3665	PAR-CLIP	23592263
MIRT452481	hsa-miR-657	PAR-CLIP	23592263
MIRT452480	hsa-miR-5087	PAR-CLIP	23592263
MIRT452479	hsa-miR-1227-3p	PAR-CLIP	23592263
MIRT452478	hsa-miR-8068	PAR-CLIP	23592263
MIRT452477	hsa-miR-4666a-5p	PAR-CLIP	23592263
MIRT452476	hsa-miR-3924	PAR-CLIP	23592263
MIRT2448120	hsa-miR-1297	CLIP-seq
MIRT2448121	hsa-miR-26a	CLIP-seq
MIRT2448122	hsa-miR-26b	CLIP-seq
MIRT2448123	hsa-miR-3662	CLIP-seq
MIRT2448124	hsa-miR-4432	CLIP-seq
MIRT2448125	hsa-miR-4465	CLIP-seq
MIRT2448126	hsa-miR-4786-5p	CLIP-seq
MIRT2448127	hsa-miR-548c-3p	CLIP-seq
MIRT2448128	hsa-miR-548u	CLIP-seq
MIRT2448129	hsa-miR-769-5p	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003724	Function	RNA helicase activity	IBA
GO:0003724	Function	RNA helicase activity	IEA
GO:0003729	Function	MRNA binding	IBA
GO:0004386	Function	Helicase activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IDA	21421998
GO:0005737	Component	Cytoplasm	IEA
GO:0007140	Process	Male meiotic nuclear division	ISS
GO:0007141	Process	Male meiosis I	ISS
GO:0007276	Process	Gamete generation	IBA
GO:0007281	Process	Germ cell development	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0016887	Function	ATP hydrolysis activity	ISS
GO:0030154	Process	Cell differentiation	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0030317	Process	Flagellated sperm motility	IMP	21034600
GO:0031047	Process	Regulatory ncRNA-mediated gene silencing	IEA
GO:0034587	Process	PiRNA processing	ISS
GO:0043186	Component	P granule	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0071546	Component	Pi-body	ISS
GO:0071547	Component	PiP-body	ISS
GO:0140693	Function	Molecular condensate scaffold activity	EXP	25747659
GO:0141006	Process	Transposable element silencing by piRNA-mediated heterochromatin formation	ISS
GO:0141196	Process	Transposable element silencing by piRNA-mediated DNA methylation	ISS

MIM	HGNC	e!Ensembl
605281	18700	ENSG00000152670

Q9NQI0

Protein name

Probable ATP-dependent RNA helicase DDX4 (EC 3.6.4.13) (DEAD box protein 4) (Vasa homolog)

Protein function

ATP-dependent RNA helicase required during spermatogenesis (PubMed:10920202, PubMed:21034600). Required to repress transposable elements and preventing their mobilization, which is essential for the germline integrity (By similarity). Acts via t

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00270	DEAD	312 → 491	DEAD/DEAH box helicase	Domain
PF00271	Helicase_C	526 → 635	Helicase conserved C-terminal domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed only in ovary and testis. Expressed in migratory primordial germ cells in the region of the gonadal ridge in both sexes. {ECO:0000269|PubMed:10920202}.

Sequence

MGDEDWEAEINPHMSSYVPIFEKDRYSGENGDNFNRTPASSSEMDDGPSRRDHFMKSGFA
SGRNFGNRDAGECNKRDNTSTMGGFGVGKSFGNRGFSNSRFEDGDSSGFWRESSNDCEDN
PTRNRGFSKRGGYRDGNNSEASGPYRRGGRGSFRGCRGGFGLGSPNNDLDPDECMQRTGG
LFGSRRPVLSGTGNGDTSQSRSGSGSERGGYKGLNEEVITGSGKNSWKSEAEGGESSDTQ
GPKVTYIPPPPPEDEDSIFAHYQTGINFDKYDTILVEVSGHDAPPAILTFEEANLCQTLN
NNIAKAGYTKLTPVQKYSIPIILAGRDLMACAQTGSGKTAAFLLPILAHMMHDGITASRF
KELQEPECIIVAPTRELVNQIYLEARKFSFGTCVRAVVIYGGTQLGHSIRQIVQGCNILC
ATPGRLMDIIGKEKIGLKQIKYLVLDEADRMLDMGFGPEMKKLISCPGMPSKEQRQTLMF
SATFPEEIQRLAAEFLKSNYLFVAVGQVGGACRDVQQTVLQVGQFSKREKLVEILRNIGD
ERTMVFVETKKKADFIATFLCQEKISTTSIHGDREQREREQALGDFRFGKCPVLVATSVA
ARGLDIENVQHVINFDLPSTIDEYVHRIGRTGRCGNTGRAISFFDLESDNHLAQPLVKVL
TDAQQDVPAWLEEIAFSTYIPGFSGSTRGNVFASVDTRKGKSTLNTAGFSSSQAPNPVDD
ESWD

Sequence length

724

Interactions

View interactions

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 (3)

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.
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male infertility	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (31)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Azoospermia	Azoospermia	Pubtator	35721721	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia, Nonobstructive	Azoospermia	BEFREE	28000927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	32847044	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	18805576, 29963162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysgerminoma	Dysgerminoma	BEFREE	11850529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	18805576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	11850529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadoblastoma	Gonadoblastoma	BEFREE	11850529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	28612512	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28612512, 28637623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	28612512	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leydig Cell Tumor	Leydig Cell Tumor	BEFREE	11850529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36380607	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	11850529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29963162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28612512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28612512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	28612512	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11850529, 18805576, 29078734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	21436895, 23222812	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23222812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	22286264, 27211570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nongerminomatous Germ Cell Tumor	Nongerminomatous Tumor	BEFREE	11850529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obstructive azoospermia	Obstructive azoospermia	BEFREE	22286264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	17486274, 27211570		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18805576		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29963162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31336813, 32847044	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	11850529, 26843623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spermatocytic seminoma	Spermatocytic Seminoma	BEFREE	11850529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	23025704		★★★★★ ★☆☆☆☆ Found in Text Mining only

DDX4 (DEAD-box helicase 4)