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	1659
Gene name	DEAH-box helicase 8
Gene symbol	DHX8
Synonyms (NCBI Gene)	DDX8Dhr2HRH1PRP22PRPF22
Chromosome	17
Chromosome location	17q21.31
Summary	This gene is a member of the DEAH box polypeptide family. The encoded protein contains the DEAH (Asp-Glu-Ala-His) motif which is characteristic of all DEAH box proteins, and is thought to function as an ATP-dependent RNA helicase that regulates the releas

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miRTarBase ID	miRNA	Experiments	Reference
MIRT028503	hsa-miR-30a-5p	Proteomics	18668040
MIRT031619	hsa-miR-16-5p	Proteomics	18668040
MIRT049306	hsa-miR-92a-3p	CLASH	23622248
MIRT047917	hsa-miR-30c-5p	CLASH	23622248
MIRT043497	hsa-miR-331-3p	CLASH	23622248
MIRT036658	hsa-miR-935	CLASH	23622248
MIRT035945	hsa-miR-1180-3p	CLASH	23622248
MIRT935737	hsa-miR-1205	CLIP-seq
MIRT935738	hsa-miR-150	CLIP-seq
MIRT935739	hsa-miR-208a	CLIP-seq
MIRT935740	hsa-miR-208b	CLIP-seq
MIRT935741	hsa-miR-219-1-3p	CLIP-seq
MIRT935742	hsa-miR-296-5p	CLIP-seq
MIRT935743	hsa-miR-3134	CLIP-seq
MIRT935744	hsa-miR-3136-3p	CLIP-seq
MIRT935745	hsa-miR-3155	CLIP-seq
MIRT935746	hsa-miR-3155b	CLIP-seq
MIRT935747	hsa-miR-3170	CLIP-seq
MIRT935748	hsa-miR-342-5p	CLIP-seq
MIRT935749	hsa-miR-3612	CLIP-seq
MIRT935750	hsa-miR-3617	CLIP-seq
MIRT935751	hsa-miR-3664-3p	CLIP-seq
MIRT935752	hsa-miR-3670	CLIP-seq
MIRT935753	hsa-miR-3692	CLIP-seq
MIRT935754	hsa-miR-3713	CLIP-seq
MIRT935755	hsa-miR-4436a	CLIP-seq
MIRT935756	hsa-miR-4443	CLIP-seq
MIRT935757	hsa-miR-4534	CLIP-seq
MIRT935758	hsa-miR-4651	CLIP-seq
MIRT935759	hsa-miR-4664-5p	CLIP-seq
MIRT935760	hsa-miR-4704-3p	CLIP-seq
MIRT935761	hsa-miR-4802-5p	CLIP-seq
MIRT935762	hsa-miR-484	CLIP-seq
MIRT935763	hsa-miR-485-5p	CLIP-seq
MIRT935764	hsa-miR-499-5p	CLIP-seq
MIRT935765	hsa-miR-539	CLIP-seq
MIRT935766	hsa-miR-556-5p	CLIP-seq
MIRT935767	hsa-miR-580	CLIP-seq
MIRT935768	hsa-miR-608	CLIP-seq
MIRT935769	hsa-miR-641	CLIP-seq
MIRT935770	hsa-miR-650	CLIP-seq
MIRT935738	hsa-miR-150	CLIP-seq
MIRT935739	hsa-miR-208a	CLIP-seq
MIRT935740	hsa-miR-208b	CLIP-seq
MIRT935741	hsa-miR-219-1-3p	CLIP-seq
MIRT935742	hsa-miR-296-5p	CLIP-seq
MIRT935743	hsa-miR-3134	CLIP-seq
MIRT935744	hsa-miR-3136-3p	CLIP-seq
MIRT935747	hsa-miR-3170	CLIP-seq
MIRT935748	hsa-miR-342-5p	CLIP-seq
MIRT935750	hsa-miR-3617	CLIP-seq
MIRT935752	hsa-miR-3670	CLIP-seq
MIRT935757	hsa-miR-4534	CLIP-seq
MIRT935758	hsa-miR-4651	CLIP-seq
MIRT935759	hsa-miR-4664-5p	CLIP-seq
MIRT935764	hsa-miR-499-5p	CLIP-seq
MIRT935765	hsa-miR-539	CLIP-seq
MIRT935766	hsa-miR-556-5p	CLIP-seq
MIRT935767	hsa-miR-580	CLIP-seq
MIRT935768	hsa-miR-608	CLIP-seq
MIRT935769	hsa-miR-641	CLIP-seq
MIRT2212399	hsa-miR-214	CLIP-seq
MIRT935741	hsa-miR-219-1-3p	CLIP-seq
MIRT2212400	hsa-miR-3135b	CLIP-seq
MIRT2212401	hsa-miR-3151	CLIP-seq
MIRT2212402	hsa-miR-3619-5p	CLIP-seq
MIRT2212403	hsa-miR-3652	CLIP-seq
MIRT935753	hsa-miR-3692	CLIP-seq
MIRT2212404	hsa-miR-3973	CLIP-seq
MIRT2212405	hsa-miR-4430	CLIP-seq
MIRT2212406	hsa-miR-4444	CLIP-seq
MIRT2212407	hsa-miR-4470	CLIP-seq
MIRT2212408	hsa-miR-4492	CLIP-seq
MIRT2212409	hsa-miR-4498	CLIP-seq
MIRT2212410	hsa-miR-4530	CLIP-seq
MIRT935758	hsa-miR-4651	CLIP-seq
MIRT2212411	hsa-miR-4693-3p	CLIP-seq
MIRT2212412	hsa-miR-4712-3p	CLIP-seq
MIRT2212413	hsa-miR-4747-5p	CLIP-seq
MIRT2212414	hsa-miR-4795-5p	CLIP-seq
MIRT2212415	hsa-miR-483-5p	CLIP-seq
MIRT2212416	hsa-miR-486-3p	CLIP-seq
MIRT2212417	hsa-miR-548k	CLIP-seq
MIRT935768	hsa-miR-608	CLIP-seq
MIRT2212418	hsa-miR-634	CLIP-seq
MIRT2212419	hsa-miR-761	CLIP-seq
MIRT2212420	hsa-miR-762	CLIP-seq
MIRT2428225	hsa-miR-204	CLIP-seq
MIRT2428226	hsa-miR-211	CLIP-seq
MIRT2428227	hsa-miR-3616-5p	CLIP-seq
MIRT2428228	hsa-miR-3647-5p	CLIP-seq
MIRT2428229	hsa-miR-4635	CLIP-seq
MIRT2428230	hsa-miR-4646-3p	CLIP-seq
MIRT2428231	hsa-miR-4719	CLIP-seq
MIRT2428232	hsa-miR-526b	CLIP-seq
MIRT2428233	hsa-miR-573	CLIP-seq
MIRT2428234	hsa-miR-578	CLIP-seq
MIRT2428225	hsa-miR-204	CLIP-seq
MIRT2428226	hsa-miR-211	CLIP-seq
MIRT2428227	hsa-miR-3616-5p	CLIP-seq
MIRT2428228	hsa-miR-3647-5p	CLIP-seq
MIRT2428229	hsa-miR-4635	CLIP-seq
MIRT2428230	hsa-miR-4646-3p	CLIP-seq
MIRT2428231	hsa-miR-4719	CLIP-seq
MIRT2428232	hsa-miR-526b	CLIP-seq
MIRT2428233	hsa-miR-573	CLIP-seq
MIRT2428234	hsa-miR-578	CLIP-seq
MIRT2428225	hsa-miR-204	CLIP-seq
MIRT2428226	hsa-miR-211	CLIP-seq
MIRT2428227	hsa-miR-3616-5p	CLIP-seq
MIRT2428228	hsa-miR-3647-5p	CLIP-seq
MIRT2428229	hsa-miR-4635	CLIP-seq
MIRT2428230	hsa-miR-4646-3p	CLIP-seq
MIRT2428231	hsa-miR-4719	CLIP-seq
MIRT2428232	hsa-miR-526b	CLIP-seq
MIRT2428233	hsa-miR-573	CLIP-seq
MIRT2428234	hsa-miR-578	CLIP-seq

Show/Hide all (37)

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	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	28076346
GO:0000398	Process	MRNA splicing, via spliceosome	IEA
GO:0000398	Process	MRNA splicing, via spliceosome	TAS
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IBA
GO:0003724	Function	RNA helicase activity	IBA
GO:0003724	Function	RNA helicase activity	IEA
GO:0003724	Function	RNA helicase activity	TAS	7935475
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	16820410, 22365833, 23602568, 28514442, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	28062851, 28076346
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	7935475
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	TAS	7935475
GO:0005829	Component	Cytosol	IDA
GO:0006396	Process	RNA processing	TAS	7935475
GO:0006397	Process	MRNA processing	IEA
GO:0008186	Function	ATP-dependent activity, acting on RNA	IEA
GO:0008186	Function	ATP-dependent activity, acting on RNA	TAS
GO:0008380	Process	RNA splicing	IEA
GO:0008380	Process	RNA splicing	TAS	7935475
GO:0016604	Component	Nuclear body	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0042802	Function	Identical protein binding	IPI	22365833
GO:0071007	Component	U2-type catalytic step 2 spliceosome	IDA	28076346
GO:0071013	Component	Catalytic step 2 spliceosome	IBA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
600396	2749	ENSG00000067596

Q14562

Protein name

ATP-dependent RNA helicase DHX8 (EC 3.6.4.13) (DEAH box protein 8) (RNA helicase HRH1)

Protein function

Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28076346, PubMed:28502770). Facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome (PubMed:8608946). {ECO:0000269|PubMed:1199163

PDB

2EQS , 3I4U , 5MQF , 5XJC , 6HYS , 6HYT , 6HYU , 6ICZ , 6QDV , 7W59 , 7W5A , 7W5B , 8C6J , 9FMD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00575	S1	261 → 336	S1 RNA binding domain	Domain
PF00271	Helicase_C	756 → 895	Helicase conserved C-terminal domain	Family
PF04408	HA2	957 → 1045	Helicase associated domain (HA2)	Domain
PF07717	OB_NTP_bind	1103 → 1180	Oligonucleotide/oligosaccharide-binding (OB)-fold	Domain

Tissue specificity

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

Sequence

MAVAVAMAGALIGSEPGPAEELAKLEYLSLVSKVCTELDNHLGINDKDLAEFVISLAEKN
TTFDTFKASLVKNGAEFTDSLISNLLRLIQTMRPPAKPSTSKDPVVKPKTEKEKLKELFP
VLCQPDNPSVRTMLDEDDVKVAVDVLKELEALMPSAAGQEKQRDAEHRDRTKKKKRSRSR
DRNRDRDRDRERNRDRDHKRRHRSRSRSRSRTRERNKVKSRYRSRSRSQSPPKDRKDRDK
YGERNLDRWRDKHVDRPPPEEPTIGDIYNGKVTSIMQFGCFVQLEGLRKRWEGLVHISEL
RREGRVANVADVVSKGQRVKVKVLSFTGTKTSLSMKDVDQETGEDLNPNRRRNLVGETNE
ETSMRNPDRPTHLSLVSAPEVEDDSLERKRLTRISDPEKWEIKQMIAANVLSKEEFPDFD
EETGILPKVDDEEDEDLEIELVEEEPPFLRGHTKQSMDMSPIKIVKNPDGSLSQAAMMQS
ALAKERRELKQAQREAEMDSIPMGLNKHWVDPLPDAEGRQIAANMRGIGMMPNDIPEWKK
HAFGGNKASYGKKTQMSILEQRESLPIYKLKEQLVQAVHDNQILIVIGETGSGKTTQITQ
YLAEAGYTSRGKIGCTQPRRVAAMSVAKRVSEEFGCCLGQEVGYTIRFEDCTSPETVIKY
MTDGMLLRECLIDPDLTQYAIIMLDEAHERTIHTDVLFGLLKKTVQKRQDMKLIVTSATL
DAVKFSQYFYEAPIFTIPGRTYPVEILYTKEPETDYLDASLITVMQIHLTEPPGDILVFL
TGQEEIDTACEILYERMKSLGPDVPELIILPVYSALPSEMQTRIFDPAPPGSRKVVIATN
IAETSLTIDGIYYVVDPGFVKQKVYNSKTGIDQLVVTPISQAQAKQRAGRAGRTGPGKCY
RLYTERAYRDEMLTTNVPEIQRTNLASTVLSLKAMGINDLLSFDFMDAPPMETLITAMEQ
LYTLGALDDEGLLTRLGRRMAEFPLEPMLCKMLIMSVHLGCSEEMLTIVSMLSVQNVFYR
PKDKQALADQKKAKFHQTEGDHLTLLAVYNSWKNNKFSNPWCYENFIQARSLRRAQDIRK
QMLGIMDRHKLDVVSCGKSTVRVQKAICSGFFRNAAKKDPQEGYRTLIDQQVVYIHPSSA
LFNRQPEWVVYHELVLTTKEYMREVTTIDPRWLVEFAPAFFKVSDPTKLSKQKKQQRLEP
LYNRYEEPNAWRISRAFRRR

Sequence length

1220

Interactions

View interactions

	KEGG
	Spliceosome

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 (6)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAKUT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (3)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	BEFREE	30191368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	39349928	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia autosomal recessive 1	Spinocerebellar ataxia	Pubtator	14770181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

DHX8 (DEAH-box helicase 8)