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	51202
Gene name	DEAD-box helicase 47
Gene symbol	DDX47
Synonyms (NCBI Gene)	E4-DBPHQ0256MSTP162RRP3
Chromosome	12
Chromosome location	12p13.1
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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT046261	hsa-miR-23b-3p	CLASH	23622248
MIRT037239	hsa-miR-877-5p	CLASH	23622248
MIRT710354	hsa-miR-552-3p	HITS-CLIP	19536157
MIRT710353	hsa-miR-6504-3p	HITS-CLIP	19536157
MIRT710352	hsa-miR-4714-3p	HITS-CLIP	19536157
MIRT710351	hsa-miR-3945	HITS-CLIP	19536157
MIRT710350	hsa-miR-4253	HITS-CLIP	19536157
MIRT710349	hsa-miR-6862-5p	HITS-CLIP	19536157
MIRT710348	hsa-miR-5095	HITS-CLIP	19536157
MIRT710347	hsa-miR-7151-3p	HITS-CLIP	19536157
MIRT710354	hsa-miR-552-3p	HITS-CLIP	19536157
MIRT710353	hsa-miR-6504-3p	HITS-CLIP	19536157
MIRT710352	hsa-miR-4714-3p	HITS-CLIP	19536157
MIRT710351	hsa-miR-3945	HITS-CLIP	19536157
MIRT710350	hsa-miR-4253	HITS-CLIP	19536157
MIRT710349	hsa-miR-6862-5p	HITS-CLIP	19536157
MIRT710348	hsa-miR-5095	HITS-CLIP	19536157
MIRT710347	hsa-miR-7151-3p	HITS-CLIP	19536157
MIRT710354	hsa-miR-552-3p	HITS-CLIP	19536157
MIRT710353	hsa-miR-6504-3p	HITS-CLIP	19536157
MIRT710352	hsa-miR-4714-3p	HITS-CLIP	19536157
MIRT710351	hsa-miR-3945	HITS-CLIP	19536157
MIRT710350	hsa-miR-4253	HITS-CLIP	19536157
MIRT710349	hsa-miR-6862-5p	HITS-CLIP	19536157
MIRT710348	hsa-miR-5095	HITS-CLIP	19536157
MIRT710347	hsa-miR-7151-3p	HITS-CLIP	19536157
MIRT710354	hsa-miR-552-3p	HITS-CLIP	19536157
MIRT710353	hsa-miR-6504-3p	HITS-CLIP	19536157
MIRT710352	hsa-miR-4714-3p	HITS-CLIP	19536157
MIRT710351	hsa-miR-3945	HITS-CLIP	19536157
MIRT710350	hsa-miR-4253	HITS-CLIP	19536157
MIRT710349	hsa-miR-6862-5p	HITS-CLIP	19536157
MIRT710348	hsa-miR-5095	HITS-CLIP	19536157
MIRT710347	hsa-miR-7151-3p	HITS-CLIP	19536157
MIRT710354	hsa-miR-552-3p	HITS-CLIP	19536157
MIRT710353	hsa-miR-6504-3p	HITS-CLIP	19536157
MIRT710352	hsa-miR-4714-3p	HITS-CLIP	19536157
MIRT710351	hsa-miR-3945	HITS-CLIP	19536157
MIRT710350	hsa-miR-4253	HITS-CLIP	19536157
MIRT710349	hsa-miR-6862-5p	HITS-CLIP	19536157
MIRT710348	hsa-miR-5095	HITS-CLIP	19536157
MIRT710347	hsa-miR-7151-3p	HITS-CLIP	19536157
MIRT710354	hsa-miR-552-3p	HITS-CLIP	19536157
MIRT710353	hsa-miR-6504-3p	HITS-CLIP	19536157
MIRT710352	hsa-miR-4714-3p	HITS-CLIP	19536157
MIRT710351	hsa-miR-3945	HITS-CLIP	19536157
MIRT710350	hsa-miR-4253	HITS-CLIP	19536157
MIRT710349	hsa-miR-6862-5p	HITS-CLIP	19536157
MIRT710348	hsa-miR-5095	HITS-CLIP	19536157
MIRT710347	hsa-miR-7151-3p	HITS-CLIP	19536157
MIRT710354	hsa-miR-552-3p	HITS-CLIP	19536157
MIRT710353	hsa-miR-6504-3p	HITS-CLIP	19536157
MIRT710352	hsa-miR-4714-3p	HITS-CLIP	19536157
MIRT710351	hsa-miR-3945	HITS-CLIP	19536157
MIRT710350	hsa-miR-4253	HITS-CLIP	19536157
MIRT710349	hsa-miR-6862-5p	HITS-CLIP	19536157
MIRT710348	hsa-miR-5095	HITS-CLIP	19536157
MIRT710347	hsa-miR-7151-3p	HITS-CLIP	19536157
MIRT710354	hsa-miR-552-3p	HITS-CLIP	19536157
MIRT710353	hsa-miR-6504-3p	HITS-CLIP	19536157
MIRT710352	hsa-miR-4714-3p	HITS-CLIP	19536157
MIRT710351	hsa-miR-3945	HITS-CLIP	19536157
MIRT710350	hsa-miR-4253	HITS-CLIP	19536157
MIRT710349	hsa-miR-6862-5p	HITS-CLIP	19536157
MIRT710348	hsa-miR-5095	HITS-CLIP	19536157
MIRT710347	hsa-miR-7151-3p	HITS-CLIP	19536157
MIRT930857	hsa-miR-1184	CLIP-seq
MIRT930858	hsa-miR-1205	CLIP-seq
MIRT930859	hsa-miR-132	CLIP-seq
MIRT930860	hsa-miR-1912	CLIP-seq
MIRT930861	hsa-miR-194	CLIP-seq
MIRT930862	hsa-miR-212	CLIP-seq
MIRT930863	hsa-miR-3065-3p	CLIP-seq
MIRT930864	hsa-miR-3145-5p	CLIP-seq
MIRT930865	hsa-miR-3158-5p	CLIP-seq
MIRT930866	hsa-miR-3664-5p	CLIP-seq
MIRT930867	hsa-miR-3913-3p	CLIP-seq
MIRT930868	hsa-miR-3973	CLIP-seq
MIRT930869	hsa-miR-4714-5p	CLIP-seq
MIRT930870	hsa-miR-4773	CLIP-seq
MIRT930871	hsa-miR-489	CLIP-seq
MIRT930872	hsa-miR-520g	CLIP-seq
MIRT930873	hsa-miR-520h	CLIP-seq
MIRT930874	hsa-miR-802	CLIP-seq
MIRT930859	hsa-miR-132	CLIP-seq
MIRT930861	hsa-miR-194	CLIP-seq
MIRT930862	hsa-miR-212	CLIP-seq
MIRT930868	hsa-miR-3973	CLIP-seq
MIRT930870	hsa-miR-4773	CLIP-seq
MIRT930872	hsa-miR-520g	CLIP-seq
MIRT930873	hsa-miR-520h	CLIP-seq
MIRT930874	hsa-miR-802	CLIP-seq
MIRT1975470	hsa-miR-1301	CLIP-seq
MIRT930859	hsa-miR-132	CLIP-seq
MIRT930861	hsa-miR-194	CLIP-seq
MIRT930862	hsa-miR-212	CLIP-seq
MIRT1975471	hsa-miR-23a	CLIP-seq
MIRT1975472	hsa-miR-23b	CLIP-seq
MIRT1975473	hsa-miR-23c	CLIP-seq
MIRT930863	hsa-miR-3065-3p	CLIP-seq
MIRT1975474	hsa-miR-3611	CLIP-seq
MIRT1975475	hsa-miR-3616-5p	CLIP-seq
MIRT1975476	hsa-miR-3647-5p	CLIP-seq
MIRT930866	hsa-miR-3664-5p	CLIP-seq
MIRT930867	hsa-miR-3913-3p	CLIP-seq
MIRT1975477	hsa-miR-4540	CLIP-seq
MIRT1975478	hsa-miR-4660	CLIP-seq
MIRT930869	hsa-miR-4714-5p	CLIP-seq
MIRT1975479	hsa-miR-4753-3p	CLIP-seq
MIRT930870	hsa-miR-4773	CLIP-seq
MIRT1975480	hsa-miR-4795-5p	CLIP-seq
MIRT930871	hsa-miR-489	CLIP-seq
MIRT1975481	hsa-miR-5047	CLIP-seq
MIRT1975482	hsa-miR-542-3p	CLIP-seq
MIRT1975483	hsa-miR-548an	CLIP-seq
MIRT1975484	hsa-miR-554	CLIP-seq
MIRT1975485	hsa-miR-573	CLIP-seq
MIRT930874	hsa-miR-802	CLIP-seq
MIRT1975486	hsa-miR-922	CLIP-seq
MIRT2210961	hsa-miR-2964a-5p	CLIP-seq
MIRT2210962	hsa-miR-3678-3p	CLIP-seq
MIRT2210963	hsa-miR-4275	CLIP-seq
MIRT2210964	hsa-miR-552	CLIP-seq
MIRT2210965	hsa-miR-579	CLIP-seq
MIRT930857	hsa-miR-1184	CLIP-seq
MIRT930858	hsa-miR-1205	CLIP-seq
MIRT930859	hsa-miR-132	CLIP-seq
MIRT930860	hsa-miR-1912	CLIP-seq
MIRT930861	hsa-miR-194	CLIP-seq
MIRT2514843	hsa-miR-2110	CLIP-seq
MIRT930862	hsa-miR-212	CLIP-seq
MIRT930863	hsa-miR-3065-3p	CLIP-seq
MIRT930864	hsa-miR-3145-5p	CLIP-seq
MIRT930865	hsa-miR-3158-5p	CLIP-seq
MIRT930866	hsa-miR-3664-5p	CLIP-seq
MIRT930867	hsa-miR-3913-3p	CLIP-seq
MIRT930868	hsa-miR-3973	CLIP-seq
MIRT2514844	hsa-miR-4271	CLIP-seq
MIRT930869	hsa-miR-4714-5p	CLIP-seq
MIRT2514845	hsa-miR-4725-3p	CLIP-seq
MIRT930870	hsa-miR-4773	CLIP-seq
MIRT930871	hsa-miR-489	CLIP-seq
MIRT930872	hsa-miR-520g	CLIP-seq
MIRT930873	hsa-miR-520h	CLIP-seq
MIRT930874	hsa-miR-802	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003724	Function	RNA helicase activity	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	15977068, 16963496, 17932509
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	16963496
GO:0005730	Component	Nucleolus	IEA
GO:0006364	Process	RRNA processing	IBA
GO:0006364	Process	RRNA processing	IEA
GO:0006364	Process	RRNA processing	IMP	16963496
GO:0006397	Process	MRNA processing	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0008380	Process	RNA splicing	IMP	16963496
GO:0008625	Process	Extrinsic apoptotic signaling pathway via death domain receptors	IDA	15977068
GO:0016020	Component	Membrane	HDA	19946888
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0042254	Process	Ribosome biogenesis	IEA

MIM	HGNC	e!Ensembl
615428	18682	ENSG00000213782

Q9H0S4

Protein name

Probable ATP-dependent RNA helicase DDX47 (EC 3.6.4.13) (DEAD box protein 47)

Protein function

Required for efficient ribosome biogenesis (By similarity). May have a role in mRNA splicing (PubMed:16963496). Involved in apoptosis (PubMed:15977068).

PDB

3BER

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00270	DEAD	48 → 215	DEAD/DEAH box helicase	Domain
PF00271	Helicase_C	249 → 358	Helicase conserved C-terminal domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in skin, lung and breast. Also expressed in the brain. {ECO:0000269|PubMed:31256877}.

Sequence

MAAPEEHDSPTEASQPIVEEEETKTFKDLGVTDVLCEACDQLGWTKPTKIQIEAIPLALQ
GRDIIGLAETGSGKTGAFALPILNALLETPQRLFALVLTPTRELAFQISEQFEALGSSIG
VQSAVIVGGIDSMSQSLALAKKPHIIIATPGRLIDHLENTKGFNLRALKYLVMDEADRIL
NMDFETEVDKILKVIPRDRKTFLFSATMTKKVQKLQRAALKNPVKCAVSSKYQTVEKLQQ
YYIFIPSKFKDTYLVYILNELAGNSFMIFCSTCNNTQRTALLLRNLGFTAIPLHGQMSQS
KRLGSLNKFKAKARSILLATDVASRGLDIPHVDVVVNFDIPTHSKDYIHRVGRTARAGRS
GKAITFVTQYDVELFQRIEHLIGKKLPGFPTQDDEVMMLTERVAEAQRFARMELREHGEK
KKRSREDAGDNDDTEGAIGVRNKVAGGKMKKRKGR

Sequence length

455

Interactions

View interactions

	Reactome
			Major pathway of rRNA processing in the nucleolus and cytosol

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 (1)

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.
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Show/Hide Text Mining Associations (2)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Blast Crisis	Blast crisis	Pubtator	19654405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33456353	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

DDX47 (DEAD-box helicase 47)