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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	79039
Gene name	DEAD-box helicase 54
Gene symbol	DDX54
Synonyms (NCBI Gene)	DP97
Chromosome	12
Chromosome location	12q24.13
Summary	This gene encodes a member of the DEAD box protein family. 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 second

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs148961522	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs764707570	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs777276705	C>T	Likely-pathogenic	Missense variant, coding sequence variant

188

Show/Hide all (188)

miRTarBase ID	miRNA	Experiments	Reference
MIRT026599	hsa-miR-192-5p	Sequencing	20371350
MIRT031772	hsa-miR-16-5p	Proteomics	18668040
MIRT047683	hsa-miR-10a-5p	CLASH	23622248
MIRT042275	hsa-miR-484	CLASH	23622248
MIRT038067	hsa-miR-423-5p	CLASH	23622248
MIRT037544	hsa-miR-744-5p	CLASH	23622248
MIRT931166	hsa-miR-1237	CLIP-seq
MIRT931167	hsa-miR-1245b-3p	CLIP-seq
MIRT931168	hsa-miR-125a-3p	CLIP-seq
MIRT931169	hsa-miR-125a-5p	CLIP-seq
MIRT931170	hsa-miR-125b	CLIP-seq
MIRT931171	hsa-miR-1261	CLIP-seq
MIRT931172	hsa-miR-1266	CLIP-seq
MIRT931173	hsa-miR-128	CLIP-seq
MIRT931174	hsa-miR-1292	CLIP-seq
MIRT931175	hsa-miR-130a	CLIP-seq
MIRT931176	hsa-miR-130b	CLIP-seq
MIRT931177	hsa-miR-15a	CLIP-seq
MIRT931178	hsa-miR-15b	CLIP-seq
MIRT931179	hsa-miR-16	CLIP-seq
MIRT931180	hsa-miR-1825	CLIP-seq
MIRT931181	hsa-miR-1827	CLIP-seq
MIRT931182	hsa-miR-1912	CLIP-seq
MIRT931183	hsa-miR-195	CLIP-seq
MIRT931184	hsa-miR-219-1-3p	CLIP-seq
MIRT931185	hsa-miR-2277-3p	CLIP-seq
MIRT931186	hsa-miR-27a	CLIP-seq
MIRT931187	hsa-miR-27b	CLIP-seq
MIRT931188	hsa-miR-2861	CLIP-seq
MIRT931189	hsa-miR-301a	CLIP-seq
MIRT931190	hsa-miR-301b	CLIP-seq
MIRT931191	hsa-miR-3127-5p	CLIP-seq
MIRT931192	hsa-miR-3177-3p	CLIP-seq
MIRT931193	hsa-miR-3182	CLIP-seq
MIRT931194	hsa-miR-3184	CLIP-seq
MIRT931195	hsa-miR-3187-3p	CLIP-seq
MIRT931196	hsa-miR-361-3p	CLIP-seq
MIRT931197	hsa-miR-3665	CLIP-seq
MIRT931198	hsa-miR-3666	CLIP-seq
MIRT931199	hsa-miR-371b-3p	CLIP-seq
MIRT931200	hsa-miR-3918	CLIP-seq
MIRT931201	hsa-miR-3929	CLIP-seq
MIRT931202	hsa-miR-3934	CLIP-seq
MIRT931203	hsa-miR-3944-5p	CLIP-seq
MIRT931204	hsa-miR-424	CLIP-seq
MIRT931205	hsa-miR-4256	CLIP-seq
MIRT931206	hsa-miR-4265	CLIP-seq
MIRT931207	hsa-miR-4268	CLIP-seq
MIRT931208	hsa-miR-4269	CLIP-seq
MIRT931209	hsa-miR-4295	CLIP-seq
MIRT931210	hsa-miR-4296	CLIP-seq
MIRT931211	hsa-miR-4313	CLIP-seq
MIRT931212	hsa-miR-4319	CLIP-seq
MIRT931213	hsa-miR-4322	CLIP-seq
MIRT931214	hsa-miR-4417	CLIP-seq
MIRT931215	hsa-miR-4419b	CLIP-seq
MIRT931216	hsa-miR-4448	CLIP-seq
MIRT931217	hsa-miR-4478	CLIP-seq
MIRT931218	hsa-miR-4518	CLIP-seq
MIRT931219	hsa-miR-451b	CLIP-seq
MIRT931220	hsa-miR-4529-5p	CLIP-seq
MIRT931221	hsa-miR-4539	CLIP-seq
MIRT931222	hsa-miR-454	CLIP-seq
MIRT931223	hsa-miR-4640-5p	CLIP-seq
MIRT931224	hsa-miR-4643	CLIP-seq
MIRT931225	hsa-miR-4645-5p	CLIP-seq
MIRT931226	hsa-miR-4649-3p	CLIP-seq
MIRT931227	hsa-miR-4659a-5p	CLIP-seq
MIRT931228	hsa-miR-4659b-5p	CLIP-seq
MIRT931229	hsa-miR-4671-3p	CLIP-seq
MIRT931230	hsa-miR-4673	CLIP-seq
MIRT931231	hsa-miR-4681	CLIP-seq
MIRT931232	hsa-miR-4682	CLIP-seq
MIRT931233	hsa-miR-4688	CLIP-seq
MIRT931234	hsa-miR-4717-3p	CLIP-seq
MIRT931235	hsa-miR-4722-3p	CLIP-seq
MIRT931236	hsa-miR-4726-5p	CLIP-seq
MIRT931237	hsa-miR-4753-5p	CLIP-seq
MIRT931238	hsa-miR-4755-3p	CLIP-seq
MIRT931239	hsa-miR-4763-5p	CLIP-seq
MIRT931240	hsa-miR-4769-3p	CLIP-seq
MIRT931241	hsa-miR-4802-3p	CLIP-seq
MIRT931242	hsa-miR-497	CLIP-seq
MIRT931243	hsa-miR-5096	CLIP-seq
MIRT931244	hsa-miR-510	CLIP-seq
MIRT931245	hsa-miR-512-3p	CLIP-seq
MIRT931246	hsa-miR-513a-5p	CLIP-seq
MIRT931247	hsa-miR-542-3p	CLIP-seq
MIRT931248	hsa-miR-544b	CLIP-seq
MIRT931249	hsa-miR-571	CLIP-seq
MIRT931250	hsa-miR-646	CLIP-seq
MIRT931251	hsa-miR-657	CLIP-seq
MIRT931252	hsa-miR-663b	CLIP-seq
MIRT931253	hsa-miR-671-5p	CLIP-seq
MIRT931254	hsa-miR-759	CLIP-seq
MIRT931255	hsa-miR-760	CLIP-seq
MIRT931256	hsa-miR-938	CLIP-seq
MIRT931257	hsa-miR-1178	CLIP-seq
MIRT931258	hsa-miR-1208	CLIP-seq
MIRT931167	hsa-miR-1245b-3p	CLIP-seq
MIRT931173	hsa-miR-128	CLIP-seq
MIRT931174	hsa-miR-1292	CLIP-seq
MIRT931259	hsa-miR-1972	CLIP-seq
MIRT931260	hsa-miR-2116	CLIP-seq
MIRT931186	hsa-miR-27a	CLIP-seq
MIRT931187	hsa-miR-27b	CLIP-seq
MIRT931261	hsa-miR-31	CLIP-seq
MIRT931192	hsa-miR-3177-3p	CLIP-seq
MIRT931262	hsa-miR-346	CLIP-seq
MIRT931263	hsa-miR-3611	CLIP-seq
MIRT931264	hsa-miR-3688-5p	CLIP-seq
MIRT931207	hsa-miR-4268	CLIP-seq
MIRT931208	hsa-miR-4269	CLIP-seq
MIRT931265	hsa-miR-4288	CLIP-seq
MIRT931216	hsa-miR-4448	CLIP-seq
MIRT931223	hsa-miR-4640-5p	CLIP-seq
MIRT931225	hsa-miR-4645-5p	CLIP-seq
MIRT931230	hsa-miR-4673	CLIP-seq
MIRT931266	hsa-miR-4677-5p	CLIP-seq
MIRT931231	hsa-miR-4681	CLIP-seq
MIRT931236	hsa-miR-4726-5p	CLIP-seq
MIRT931238	hsa-miR-4755-3p	CLIP-seq
MIRT931267	hsa-miR-493	CLIP-seq
MIRT931268	hsa-miR-503	CLIP-seq
MIRT931243	hsa-miR-5096	CLIP-seq
MIRT931246	hsa-miR-513a-5p	CLIP-seq
MIRT931269	hsa-miR-632	CLIP-seq
MIRT931270	hsa-miR-767-3p	CLIP-seq
MIRT1975557	hsa-miR-1238	CLIP-seq
MIRT931168	hsa-miR-125a-3p	CLIP-seq
MIRT1975558	hsa-miR-1468	CLIP-seq
MIRT931194	hsa-miR-3184	CLIP-seq
MIRT1975559	hsa-miR-4732-3p	CLIP-seq
MIRT1975560	hsa-miR-642b	CLIP-seq
MIRT2211063	hsa-miR-1205	CLIP-seq
MIRT931180	hsa-miR-1825	CLIP-seq
MIRT2211064	hsa-miR-1909	CLIP-seq
MIRT2211065	hsa-miR-3120-5p	CLIP-seq
MIRT2211066	hsa-miR-3689a-3p	CLIP-seq
MIRT2211067	hsa-miR-3689c	CLIP-seq
MIRT931199	hsa-miR-371b-3p	CLIP-seq
MIRT931200	hsa-miR-3918	CLIP-seq
MIRT931201	hsa-miR-3929	CLIP-seq
MIRT931208	hsa-miR-4269	CLIP-seq
MIRT931215	hsa-miR-4419b	CLIP-seq
MIRT2211068	hsa-miR-4426	CLIP-seq
MIRT2211069	hsa-miR-4446-3p	CLIP-seq
MIRT2211070	hsa-miR-4447	CLIP-seq
MIRT2211071	hsa-miR-4472	CLIP-seq
MIRT931217	hsa-miR-4478	CLIP-seq
MIRT2211072	hsa-miR-4492	CLIP-seq
MIRT2211073	hsa-miR-4498	CLIP-seq
MIRT931219	hsa-miR-451b	CLIP-seq
MIRT931223	hsa-miR-4640-5p	CLIP-seq
MIRT931225	hsa-miR-4645-5p	CLIP-seq
MIRT2211074	hsa-miR-4647	CLIP-seq
MIRT2211075	hsa-miR-4662b	CLIP-seq
MIRT931230	hsa-miR-4673	CLIP-seq
MIRT2211076	hsa-miR-4675	CLIP-seq
MIRT2211077	hsa-miR-4721	CLIP-seq
MIRT931236	hsa-miR-4726-5p	CLIP-seq
MIRT2211078	hsa-miR-4728-5p	CLIP-seq
MIRT2211079	hsa-miR-4741	CLIP-seq
MIRT2211080	hsa-miR-4747-5p	CLIP-seq
MIRT931238	hsa-miR-4755-3p	CLIP-seq
MIRT2211081	hsa-miR-550a	CLIP-seq
MIRT2211082	hsa-miR-593	CLIP-seq
MIRT2211083	hsa-miR-762	CLIP-seq
MIRT931168	hsa-miR-125a-3p	CLIP-seq
MIRT2448132	hsa-miR-4522	CLIP-seq
MIRT2448133	hsa-miR-4710	CLIP-seq
MIRT2448134	hsa-miR-4727-5p	CLIP-seq
MIRT931238	hsa-miR-4755-3p	CLIP-seq
MIRT931240	hsa-miR-4769-3p	CLIP-seq
MIRT931166	hsa-miR-1237	CLIP-seq
MIRT931167	hsa-miR-1245b-3p	CLIP-seq
MIRT2514941	hsa-miR-1976	CLIP-seq
MIRT931186	hsa-miR-27a	CLIP-seq
MIRT931187	hsa-miR-27b	CLIP-seq
MIRT931193	hsa-miR-3182	CLIP-seq
MIRT931195	hsa-miR-3187-3p	CLIP-seq
MIRT931207	hsa-miR-4268	CLIP-seq
MIRT931216	hsa-miR-4448	CLIP-seq
MIRT931220	hsa-miR-4529-5p	CLIP-seq
MIRT931243	hsa-miR-5096	CLIP-seq
MIRT931246	hsa-miR-513a-5p	CLIP-seq
MIRT931252	hsa-miR-663b	CLIP-seq
MIRT931256	hsa-miR-938	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003714	Function	Transcription corepressor activity	IDA	12466272
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003724	Function	RNA helicase activity	IDA	12466272
GO:0003724	Function	RNA helicase activity	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0005102	Function	Signaling receptor binding	IDA	12466272
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	12466272
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IBA
GO:0005730	Component	Nucleolus	IDA	12466272
GO:0005730	Component	Nucleolus	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0006364	Process	RRNA processing	IBA
GO:0006396	Process	RNA processing	IDA	12466272
GO:0006396	Process	RNA processing	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016070	Process	RNA metabolic process	IDA	12466272
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030331	Function	Nuclear estrogen receptor binding	IDA	12466272
GO:0030520	Process	Estrogen receptor signaling pathway	TAS	12466272
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA

MIM	HGNC	e!Ensembl
611665	20084	ENSG00000123064

Q8TDD1

Protein name

ATP-dependent RNA helicase DDX54 (EC 3.6.4.13) (ATP-dependent RNA helicase DP97) (DEAD box RNA helicase 97 kDa) (DEAD box protein 54)

Protein function

Has RNA-dependent ATPase activity. Represses the transcriptional activity of nuclear receptors.

PDB

8FKT , 8FKU , 8FKV , 8FKW , 8FKX , 8FKY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00270	DEAD	120 → 288	DEAD/DEAH box helicase	Domain
PF00271	Helicase_C	322 → 433	Helicase conserved C-terminal domain	Family
PF08147	DBP10CT	714 → 774	DBP10CT (NUC160) domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the fallopian tube, cervix and uterus. Also expressed in the brain. {ECO:0000269|PubMed:31256877}.

Sequence

MAADKGPAAGPRSRAAMAQWRKKKGLRKRRGAASQARGSDSEDGEFEIQAEDDARARKLG
PGRPLPTFPTSECTSDVEPDTREMVRAQNKKKKKSGGFQSMGLSYPVFKGIMKKGYKVPT
PIQRKTIPVILDGKDVVAMARTGSGKTACFLLPMFERLKTHSAQTGARALILSPTRELAL
QTLKFTKELGKFTGLKTALILGGDRMEDQFAALHENPDIIIATPGRLVHVAVEMSLKLQS
VEYVVFDEADRLFEMGFAEQLQEIIARLPGGHQTVLFSATLPKLLVEFARAGLTEPVLIR
LDVDTKLNEQLKTSFFLVREDTKAAVLLHLLHNVVRPQDQTVVFVATKHHAEYLTELLTT
QRVSCAHIYSALDPTARKINLAKFTLGKCSTLIVTDLAARGLDIPLLDNVINYSFPAKGK
LFLHRVGRVARAGRSGTAYSLVAPDEIPYLLDLHLFLGRSLTLARPLKEPSGVAGVDGML
GRVPQSVVDEEDSGLQSTLEASLELRGLARVADNAQQQYVRSRPAPSPESIKRAKEMDLV
GLGLHPLFSSRFEEEELQRLRLVDSIKNYRSRATIFEINASSRDLCSQVMRAKRQKDRKA
IARFQQGQQGRQEQQEGPVGPAPSRPALQEKQPEKEEEEEAGESVEDIFSEVVGRKRQRS
GPNRGAKRRREEARQRDQEFYIPYRPKDFDSERGLSISGEGGAFEQQAAGAVLDLMGDEA
QNLTRGRQQLKWDRKKKRFVGQSGQEDKKKIKTESGRYISSSYKRDLYQKWKQKQKIDDR
DSDEEGASDRRGPERRGGKRDRGQGASRPHAPGTPAGRVRPELKTKQQILKQRRRAQKLH
FLQRGGLKQLSARNRRRVQELQQGAFGRGARSKKGKMRKRM

Sequence length

881

Interactions

View interactions

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Likely pathogenic	rs777276705, rs764707570, rs774035439	RCV000853109 RCV000853107 RCV000853108
Neurodevelopmental delay	Likely pathogenic	rs777276705, rs764707570, rs774035439	RCV000853109 RCV000853107 RCV000853108
Neurodevelopmental disorders	Likely pathogenic	rs777276705, rs764707570, rs774035439	RCV001261681 RCV001261679 RCV001261680
Seizure	Likely pathogenic	rs764707570	RCV000853107

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs138867026	RCV005871391
Colorectal cancer	Benign	rs138867026	RCV005871395
DDX54-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs2542042288, rs1298280132, rs138867026, rs2290766, rs75658961, rs151166999, rs144718042, rs148830136, rs115144721, rs147338699, rs12811662, rs116150151, rs11564, rs147593229, rs148961522, rs145088073, rs112844454 View all (2 more)	RCV003410383 RCV003420940 RCV003929871 RCV003974051 RCV003917037 RCV003929446 RCV003951717 RCV003951768 RCV003924510 RCV003917330 RCV003932084 RCV003979008 RCV003976295 RCV003976486 RCV003955561 RCV003926104 RCV003905801
DDX54-related Neurodevelopment Syndrome	Uncertain significance	rs754799242	RCV004799516
DDX54-related Neurodevelopmental Disorder	Uncertain significance	rs1050695140	RCV004799533
Familial cancer of breast	Benign	rs138867026	RCV005871390
Malignant lymphoma, large B-cell, diffuse	Benign	rs138867026	RCV005871394
Malignant tumor of esophagus	Benign	rs138867026	RCV005871392
Multiple renal cysts	Conflicting classifications of pathogenicity	rs148961522	RCV000853110
Reduced renal corticomedullary differentiation	Conflicting classifications of pathogenicity	rs148961522	RCV000853110
Renal hypoplasia	Conflicting classifications of pathogenicity	rs148961522	RCV000853110
See cases	Uncertain significance	rs150324746	RCV001785225
Uveal melanoma	Benign	rs138867026	RCV005871393

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
DNA Virus Infections	Associate	28596291

DDX54 (DEAD-box helicase 54)