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	9879
Gene name	DEAD-box helicase 46
Gene symbol	DDX46
Synonyms (NCBI Gene)	PRPF5Prp5
Chromosome	5
Chromosome location	5q31.1
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
MIRT028028	hsa-miR-93-5p	Sequencing	20371350
MIRT030807	hsa-miR-21-5p	Microarray	18591254
MIRT048690	hsa-miR-99a-5p	CLASH	23622248
MIRT042512	hsa-miR-423-3p	CLASH	23622248
MIRT930789	hsa-miR-122	CLIP-seq
MIRT930790	hsa-miR-1224-3p	CLIP-seq
MIRT930791	hsa-miR-1231	CLIP-seq
MIRT930792	hsa-miR-1234	CLIP-seq
MIRT930793	hsa-miR-1245	CLIP-seq
MIRT930794	hsa-miR-1252	CLIP-seq
MIRT930795	hsa-miR-1279	CLIP-seq
MIRT930796	hsa-miR-130a	CLIP-seq
MIRT930797	hsa-miR-130b	CLIP-seq
MIRT930798	hsa-miR-150	CLIP-seq
MIRT930799	hsa-miR-181a	CLIP-seq
MIRT930800	hsa-miR-181b	CLIP-seq
MIRT930801	hsa-miR-181c	CLIP-seq
MIRT930802	hsa-miR-181d	CLIP-seq
MIRT930803	hsa-miR-1913	CLIP-seq
MIRT930804	hsa-miR-197	CLIP-seq
MIRT930805	hsa-miR-205	CLIP-seq
MIRT930806	hsa-miR-219-5p	CLIP-seq
MIRT930807	hsa-miR-301a	CLIP-seq
MIRT930808	hsa-miR-301b	CLIP-seq
MIRT930809	hsa-miR-3135b	CLIP-seq
MIRT930810	hsa-miR-3151	CLIP-seq
MIRT930811	hsa-miR-324-3p	CLIP-seq
MIRT930812	hsa-miR-3545-3p	CLIP-seq
MIRT930813	hsa-miR-3606	CLIP-seq
MIRT930814	hsa-miR-3611	CLIP-seq
MIRT930815	hsa-miR-3652	CLIP-seq
MIRT930816	hsa-miR-3664-5p	CLIP-seq
MIRT930817	hsa-miR-3666	CLIP-seq
MIRT930818	hsa-miR-3681	CLIP-seq
MIRT930819	hsa-miR-3691-5p	CLIP-seq
MIRT930820	hsa-miR-411	CLIP-seq
MIRT930821	hsa-miR-4262	CLIP-seq
MIRT930822	hsa-miR-4265	CLIP-seq
MIRT930823	hsa-miR-4282	CLIP-seq
MIRT930824	hsa-miR-4288	CLIP-seq
MIRT930825	hsa-miR-4295	CLIP-seq
MIRT930826	hsa-miR-4296	CLIP-seq
MIRT930827	hsa-miR-4322	CLIP-seq
MIRT930828	hsa-miR-4430	CLIP-seq
MIRT930829	hsa-miR-4445	CLIP-seq
MIRT930830	hsa-miR-4447	CLIP-seq
MIRT930831	hsa-miR-4472	CLIP-seq
MIRT930832	hsa-miR-4474-5p	CLIP-seq
MIRT930833	hsa-miR-454	CLIP-seq
MIRT930834	hsa-miR-4635	CLIP-seq
MIRT930835	hsa-miR-4639-3p	CLIP-seq
MIRT930836	hsa-miR-4659a-3p	CLIP-seq
MIRT930837	hsa-miR-4659b-3p	CLIP-seq
MIRT930838	hsa-miR-4661-3p	CLIP-seq
MIRT930839	hsa-miR-4666-5p	CLIP-seq
MIRT930840	hsa-miR-4680-5p	CLIP-seq
MIRT930841	hsa-miR-4694-5p	CLIP-seq
MIRT930842	hsa-miR-4716-5p	CLIP-seq
MIRT930843	hsa-miR-4724-3p	CLIP-seq
MIRT930844	hsa-miR-4742-3p	CLIP-seq
MIRT930845	hsa-miR-4764-5p	CLIP-seq
MIRT930846	hsa-miR-4782-3p	CLIP-seq
MIRT930847	hsa-miR-4788	CLIP-seq
MIRT930848	hsa-miR-486-5p	CLIP-seq
MIRT930849	hsa-miR-487a	CLIP-seq
MIRT930850	hsa-miR-491-5p	CLIP-seq
MIRT930851	hsa-miR-508-3p	CLIP-seq
MIRT930852	hsa-miR-5096	CLIP-seq
MIRT930853	hsa-miR-511	CLIP-seq
MIRT930854	hsa-miR-548g	CLIP-seq
MIRT930855	hsa-miR-590-3p	CLIP-seq
MIRT930856	hsa-miR-632	CLIP-seq
MIRT930789	hsa-miR-122	CLIP-seq
MIRT930795	hsa-miR-1279	CLIP-seq
MIRT930796	hsa-miR-130a	CLIP-seq
MIRT930797	hsa-miR-130b	CLIP-seq
MIRT930807	hsa-miR-301a	CLIP-seq
MIRT930808	hsa-miR-301b	CLIP-seq
MIRT930809	hsa-miR-3135b	CLIP-seq
MIRT930815	hsa-miR-3652	CLIP-seq
MIRT930817	hsa-miR-3666	CLIP-seq
MIRT930825	hsa-miR-4295	CLIP-seq
MIRT1975467	hsa-miR-4330	CLIP-seq
MIRT930828	hsa-miR-4430	CLIP-seq
MIRT930833	hsa-miR-454	CLIP-seq
MIRT930841	hsa-miR-4694-5p	CLIP-seq
MIRT1975468	hsa-miR-4729	CLIP-seq
MIRT930848	hsa-miR-486-5p	CLIP-seq
MIRT1975469	hsa-miR-579	CLIP-seq
MIRT930855	hsa-miR-590-3p	CLIP-seq
MIRT930789	hsa-miR-122	CLIP-seq
MIRT930793	hsa-miR-1245	CLIP-seq
MIRT2210931	hsa-miR-1255a	CLIP-seq
MIRT2210932	hsa-miR-1255b	CLIP-seq
MIRT930796	hsa-miR-130a	CLIP-seq
MIRT930797	hsa-miR-130b	CLIP-seq
MIRT2210933	hsa-miR-1324	CLIP-seq
MIRT2210934	hsa-miR-145	CLIP-seq
MIRT2210935	hsa-miR-29a	CLIP-seq
MIRT2210936	hsa-miR-29b	CLIP-seq
MIRT2210937	hsa-miR-29c	CLIP-seq
MIRT930807	hsa-miR-301a	CLIP-seq
MIRT930808	hsa-miR-301b	CLIP-seq
MIRT2210938	hsa-miR-3064-3p	CLIP-seq
MIRT2210939	hsa-miR-30a	CLIP-seq
MIRT2210940	hsa-miR-30b	CLIP-seq
MIRT2210941	hsa-miR-30c	CLIP-seq
MIRT2210942	hsa-miR-30d	CLIP-seq
MIRT2210943	hsa-miR-30e	CLIP-seq
MIRT2210944	hsa-miR-3120-3p	CLIP-seq
MIRT930809	hsa-miR-3135b	CLIP-seq
MIRT2210945	hsa-miR-3158-5p	CLIP-seq
MIRT2210946	hsa-miR-3166	CLIP-seq
MIRT2210947	hsa-miR-3177-5p	CLIP-seq
MIRT2210948	hsa-miR-3179	CLIP-seq
MIRT2210949	hsa-miR-3609	CLIP-seq
MIRT930815	hsa-miR-3652	CLIP-seq
MIRT2210950	hsa-miR-3663-3p	CLIP-seq
MIRT930816	hsa-miR-3664-5p	CLIP-seq
MIRT930817	hsa-miR-3666	CLIP-seq
MIRT930818	hsa-miR-3681	CLIP-seq
MIRT930819	hsa-miR-3691-5p	CLIP-seq
MIRT930825	hsa-miR-4295	CLIP-seq
MIRT2210951	hsa-miR-4418	CLIP-seq
MIRT930828	hsa-miR-4430	CLIP-seq
MIRT930832	hsa-miR-4474-5p	CLIP-seq
MIRT930833	hsa-miR-454	CLIP-seq
MIRT930835	hsa-miR-4639-3p	CLIP-seq
MIRT930845	hsa-miR-4764-5p	CLIP-seq
MIRT2210952	hsa-miR-4771	CLIP-seq
MIRT930850	hsa-miR-491-5p	CLIP-seq
MIRT2210953	hsa-miR-499-3p	CLIP-seq
MIRT2210954	hsa-miR-499a-3p	CLIP-seq
MIRT2210955	hsa-miR-509-3-5p	CLIP-seq
MIRT2210956	hsa-miR-509-5p	CLIP-seq
MIRT930853	hsa-miR-511	CLIP-seq
MIRT2210957	hsa-miR-520g	CLIP-seq
MIRT2210958	hsa-miR-520h	CLIP-seq
MIRT2210959	hsa-miR-548ah	CLIP-seq
MIRT930854	hsa-miR-548g	CLIP-seq
MIRT2210960	hsa-miR-640	CLIP-seq
MIRT2210934	hsa-miR-145	CLIP-seq
MIRT2386812	hsa-miR-194	CLIP-seq
MIRT930806	hsa-miR-219-5p	CLIP-seq
MIRT2210938	hsa-miR-3064-3p	CLIP-seq
MIRT930810	hsa-miR-3151	CLIP-seq
MIRT2386813	hsa-miR-376a	CLIP-seq
MIRT2386814	hsa-miR-376b	CLIP-seq
MIRT2386815	hsa-miR-410	CLIP-seq
MIRT930822	hsa-miR-4265	CLIP-seq
MIRT930826	hsa-miR-4296	CLIP-seq
MIRT930827	hsa-miR-4322	CLIP-seq
MIRT930829	hsa-miR-4445	CLIP-seq
MIRT930830	hsa-miR-4447	CLIP-seq
MIRT930831	hsa-miR-4472	CLIP-seq
MIRT2386816	hsa-miR-448	CLIP-seq
MIRT930846	hsa-miR-4782-3p	CLIP-seq
MIRT930847	hsa-miR-4788	CLIP-seq
MIRT930850	hsa-miR-491-5p	CLIP-seq
MIRT2210953	hsa-miR-499-3p	CLIP-seq
MIRT2210954	hsa-miR-499a-3p	CLIP-seq
MIRT930851	hsa-miR-508-3p	CLIP-seq
MIRT2386817	hsa-miR-520a-5p	CLIP-seq
MIRT2386818	hsa-miR-525-5p	CLIP-seq
MIRT2386819	hsa-miR-548c-3p	CLIP-seq
MIRT2386820	hsa-miR-634	CLIP-seq
MIRT930790	hsa-miR-1224-3p	CLIP-seq
MIRT930792	hsa-miR-1234	CLIP-seq
MIRT930793	hsa-miR-1245	CLIP-seq
MIRT930798	hsa-miR-150	CLIP-seq
MIRT2514838	hsa-miR-186	CLIP-seq
MIRT930803	hsa-miR-1913	CLIP-seq
MIRT2210938	hsa-miR-3064-3p	CLIP-seq
MIRT2514839	hsa-miR-3149	CLIP-seq
MIRT930811	hsa-miR-324-3p	CLIP-seq
MIRT2514840	hsa-miR-331-5p	CLIP-seq
MIRT2386813	hsa-miR-376a	CLIP-seq
MIRT2386814	hsa-miR-376b	CLIP-seq
MIRT2514841	hsa-miR-4735-5p	CLIP-seq
MIRT2514842	hsa-miR-4775	CLIP-seq
MIRT2210953	hsa-miR-499-3p	CLIP-seq
MIRT2210954	hsa-miR-499a-3p	CLIP-seq
MIRT930855	hsa-miR-590-3p	CLIP-seq
MIRT2386820	hsa-miR-634	CLIP-seq
MIRT2514838	hsa-miR-186	CLIP-seq
MIRT2514840	hsa-miR-331-5p	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	32494006, 34822310, 36797247
GO:0000398	Process	MRNA splicing, via spliceosome	IEA
GO:0000398	Process	MRNA splicing, via spliceosome	NAS	31744343
GO:0000398	Process	MRNA splicing, via spliceosome	TAS
GO:0001650	Component	Fibrillar center	IDA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IEA
GO:0003724	Function	RNA helicase activity	IEA
GO:0003724	Function	RNA helicase activity	TAS
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	22365833, 23602568, 32707033, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	HDA	16791210
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	31744343
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	NAS	31744343
GO:0005684	Component	U2-type spliceosomal complex	IDA	32494006, 34822310, 36797247
GO:0005686	Component	U2 snRNP	NAS	31744343
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0015030	Component	Cajal body	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0016607	Component	Nuclear speck	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:1903241	Process	U2-type prespliceosome assembly	IDA	36797247
GO:1903241	Process	U2-type prespliceosome assembly	NAS	31744343

MIM	HGNC	e!Ensembl
617848	18681	ENSG00000145833

Q7L014

Protein name

Probable ATP-dependent RNA helicase DDX46 (EC 3.6.4.13) (DEAD box protein 46) (PRP5 homolog)

Protein function

Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:12234937, PubMed:32494006, PubMed:34822310, PubMed:36797247). The 17S U2 SnRNP complex (1) direct

PDB

6Y50 , 6Y53 , 6Y5Q , 7EVO , 7Q3L , 7VPX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00270	DEAD	396 → 570	DEAD/DEAH box helicase	Domain
PF00271	Helicase_C	604 → 714	Helicase conserved C-terminal domain	Family

Sequence

MGRESRHYRKRSASRGRSGSRSRSRSPSDKRSKRGDDRRSRSRDRDRRRERSRSRDKRRS
RSRDRKRLRRSRSRERDRSRERRRSRSRDRRRSRSRSRGRRSRSSSPGNKSKKTENRSRS
KEKTDGGESSKEKKKDKDDKEDEKEKDAGNFDQNKLEEEMRKRKERVEKWREEQRKKAME
NIGELKKEIEEMKQGKKWSLEDDDDDEDDPAEAEKEGNEMEGEELDPLDAYMEEVKEEVK
KFNMRSVKGGGGNEKKSGPTVTKVVTVVTTKKAVVDSDKKKGELMENDQDAMEYSSEEEE
VDLQTALTGYQTKQRKLLEPVDHGKIEYEPFRKNFYVEVPELAKMSQEEVNVFRLEMEGI
TVKGKGCPKPIKSWVQCGISMKILNSLKKHGYEKPTPIQTQAIPAIMSGRDLIGIAKTGS
GKTIAFLLPMFRHIMDQRSLEEGEGPIAVIMTPTRELALQITKECKKFSKTLGLRVVCVY
GGTGISEQIAELKRGAEIIVCTPGRMIDMLAANSGRVTNLRRVTYVVLDEADRMFDMGFE
PQVMRIVDNVRPDRQTVMFSATFPRAMEALARRILSKPIEVQVGGRSVVCSDVEQQVIVI
EEEKKFLKLLELLGHYQESGSVIIFVDKQEHADGLLKDLMRASYPCMSLHGGIDQYDRDS
IINDFKNGTCKLLVATSVAARGLDVKHLILVVNYSCPNHYEDYVHRAGRTGRAGNKGYAY
TFITEDQARYAGDIIKALELSGTAVPPDLEKLWSDFKDQQKAEGKIIKKSSGFSGKGFKF
DETEQALANERKKLQKAALGLQDSDDEDAAVDIDEQIESMFNSKKRVKDMAAPGTSSVPA
PTAGNAEKLEIAKRLALRINAQKNLGIESQDVMQQATNAILRGGTILAPTVSAKTIAEQL
AEKINAKLNYVPLEKQEEERQDGGQNESFKRYEEELEINDFPQTARWKVTSKEALQRISE
YSEAAITIRGTYFPPGKEPKEGERKIYLAIESANELAVQKAKAEITRLIKEELIRLQNSY
QPTNKGRYKVL

Sequence length

1031

Interactions

View interactions

	KEGG		Reactome
	Spliceosome		mRNA Splicing - Major Pathway

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.
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (19)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic lateral sclerosis	BEFREE	15106121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20818423	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33000271	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27078856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25680556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	9259430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Antral Vascular Ectasia	Vascular ectasia	BEFREE	9259430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30387548	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	15106121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	9259430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25680556, 25965566, 27078856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27697093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	27697093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	35132330	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1	Spinocerebellar Ataxia	BEFREE	24814856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	27176873		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30804389	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	11138345, 9259430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	11138345		★★★★★ ★☆☆☆☆ Found in Text Mining only

DDX46 (DEAD-box helicase 46)