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	9704
Gene name	DExH-box helicase 34
Gene symbol	DHX34
Synonyms (NCBI Gene)	DDX34HRH1
Chromosome	19
Chromosome location	19q13.32
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 (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs549149043	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs764483792	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1599751192	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, 5 prime UTR variant

Show/Hide all (66)

miRTarBase ID	miRNA	Experiments	Reference
MIRT036237	hsa-miR-320b	CLASH	23622248
MIRT935506	hsa-miR-1207-3p	CLIP-seq
MIRT935507	hsa-miR-3130-3p	CLIP-seq
MIRT935508	hsa-miR-3177-3p	CLIP-seq
MIRT935509	hsa-miR-335	CLIP-seq
MIRT935510	hsa-miR-3689d	CLIP-seq
MIRT935511	hsa-miR-4436b-3p	CLIP-seq
MIRT935512	hsa-miR-4511	CLIP-seq
MIRT935513	hsa-miR-4639-5p	CLIP-seq
MIRT935514	hsa-miR-4736	CLIP-seq
MIRT935515	hsa-miR-516b	CLIP-seq
MIRT935516	hsa-miR-541	CLIP-seq
MIRT935517	hsa-miR-548b-3p	CLIP-seq
MIRT935518	hsa-miR-604	CLIP-seq
MIRT935519	hsa-miR-619	CLIP-seq
MIRT935520	hsa-miR-654-5p	CLIP-seq
MIRT935521	hsa-miR-658	CLIP-seq
MIRT1976935	hsa-miR-1185	CLIP-seq
MIRT1976936	hsa-miR-1302	CLIP-seq
MIRT1976937	hsa-miR-140-3p	CLIP-seq
MIRT1976938	hsa-miR-185	CLIP-seq
MIRT1976939	hsa-miR-2392	CLIP-seq
MIRT935507	hsa-miR-3130-3p	CLIP-seq
MIRT935509	hsa-miR-335	CLIP-seq
MIRT1976940	hsa-miR-3605-5p	CLIP-seq
MIRT1976941	hsa-miR-3679-5p	CLIP-seq
MIRT1976942	hsa-miR-3936	CLIP-seq
MIRT1976943	hsa-miR-4298	CLIP-seq
MIRT1976944	hsa-miR-4306	CLIP-seq
MIRT1976945	hsa-miR-4499	CLIP-seq
MIRT1976946	hsa-miR-4644	CLIP-seq
MIRT1976947	hsa-miR-4700-3p	CLIP-seq
MIRT1976948	hsa-miR-4793-3p	CLIP-seq
MIRT2212277	hsa-miR-1184	CLIP-seq
MIRT2212278	hsa-miR-1343	CLIP-seq
MIRT2212279	hsa-miR-1587	CLIP-seq
MIRT2212280	hsa-miR-3065-3p	CLIP-seq
MIRT2212281	hsa-miR-3135b	CLIP-seq
MIRT2212282	hsa-miR-3616-3p	CLIP-seq
MIRT2212283	hsa-miR-3620	CLIP-seq
MIRT2212284	hsa-miR-3652	CLIP-seq
MIRT2212285	hsa-miR-378g	CLIP-seq
MIRT2212286	hsa-miR-4269	CLIP-seq
MIRT2212287	hsa-miR-4430	CLIP-seq
MIRT935511	hsa-miR-4436b-3p	CLIP-seq
MIRT2212288	hsa-miR-4492	CLIP-seq
MIRT2212289	hsa-miR-4498	CLIP-seq
MIRT2212290	hsa-miR-4514	CLIP-seq
MIRT2212291	hsa-miR-4540	CLIP-seq
MIRT2212292	hsa-miR-4656	CLIP-seq
MIRT2212293	hsa-miR-4675	CLIP-seq
MIRT2212294	hsa-miR-4692	CLIP-seq
MIRT935514	hsa-miR-4736	CLIP-seq
MIRT2212295	hsa-miR-4741	CLIP-seq
MIRT2212296	hsa-miR-4742-5p	CLIP-seq
MIRT2212297	hsa-miR-554	CLIP-seq
MIRT2212298	hsa-miR-762	CLIP-seq
MIRT2386892	hsa-miR-1973	CLIP-seq
MIRT935507	hsa-miR-3130-3p	CLIP-seq
MIRT2386893	hsa-miR-4645-5p	CLIP-seq
MIRT2386894	hsa-miR-4673	CLIP-seq
MIRT1976948	hsa-miR-4793-3p	CLIP-seq
MIRT1976936	hsa-miR-1302	CLIP-seq
MIRT1976937	hsa-miR-140-3p	CLIP-seq
MIRT1976943	hsa-miR-4298	CLIP-seq
MIRT1976947	hsa-miR-4700-3p	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IBA
GO:0000956	Process	Nuclear-transcribed mRNA catabolic process	IMP	23828042
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IBA
GO:0003723	Function	RNA binding	IEA
GO:0003724	Function	RNA helicase activity	IEA
GO:0004386	Function	Helicase activity	IBA
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	25220460, 26841701, 33205750, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IMP	33205750
GO:0042327	Process	Positive regulation of phosphorylation	IMP	26841701
GO:0044877	Function	Protein-containing complex binding	IPI	26841701
GO:2000623	Process	Negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP	23828042

MIM	HGNC	e!Ensembl
615475	16719	ENSG00000134815

Q14147

Protein name

Probable ATP-dependent RNA helicase DHX34 (EC 3.6.4.13) (DEAH box protein 34) (DExH-box helicase 34)

Protein function

Probable ATP-binding RNA helicase required for nonsense-mediated decay (NMD) degradation of mRNA transcripts containing premature stop codons (PubMed:25220460, PubMed:33205750). Promotes the phosphorylation of UPF1 along with its interaction wit

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00271	Helicase_C	363 → 496	Helicase conserved C-terminal domain	Family
PF04408	HA2	557 → 747	Helicase associated domain (HA2)	Domain
PF07717	OB_NTP_bind	800 → 911	Oligonucleotide/oligosaccharide-binding (OB)-fold	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in whole blood, testis and spleen. Also expressed in the brain. {ECO:0000269|PubMed:31256877}.

Sequence

MPPPRTREGRDRRDHHRAPSEEEALEKWDWNCPETRRLLEDAFFREEDYIRQGSEECQKF
WTFFERLQRFQNLKTSRKEEKDPGQPKHSIPALADLPRTYDPRYRINLSVLGPATRGSQG
LGRHLPAERVAEFRRALLHYLDFGQKQAFGRLAKLQRERAALPIAQYGNRILQTLKEHQV
VVVAGDTGCGKSTQVPQYLLAAGFSHVACTQPRRIACISLAKRVGFESLSQYGSQVGYQI
RFESTRSAATKIVFLTVGLLLRQIQREPSLPQYEVLIVDEVHERHLHNDFLLGVLQRLLP
TRPDLKVILMSATINISLFSSYFSNAPVVQVPGRLFPITVVYQPQEAEPTTSKSEKLDPR
PFLRVLESIDHKYPPEERGDLLVFLSGMAEISAVLEAAQTYASHTQRWVVLPLHSALSVA
DQDKVFDVAPPGVRKCILSTNIAETSVTIDGIRFVVDSGKVKEMSYDPQAKLQRLQEFWI
SQASAEQRKGRAGRTGPGVCFRLYAESDYDAFAPYPVPEIRRVALDSLVLQMKSMSVGDP
RTFPFIEPPPPASLETAILYLRDQGALDSSEALTPIGSLLAQLPVDVVIGKMLILGSMFS
LVEPVLTIAAALSVQSPFTRSAQSSPECAAARRPLESDQGDPFTLFNVFNAWVQVKSERS
RNSRKWCRRRGIEEHRLYEMANLRRQFKELLEDHGLLAGAQAAQVGDSYSRLQQRRERRA
LHQLKRQHEEGAGRRRKVLRLQEEQDGGSSDEDRAGPAPPGASDGVDIQDVKFKLRHDLA
QLQAAASSAQDLSREQLALLKLVLGRGLYPQLAVPDAFNSSRKDSDQIFHTQAKQGAVLH
PTCVFAGSPEVLHAQELEASNCDGSRDDKDKMSSKHQLLSFVSLLETNKPYLVNCVRIPA
LQSLLLFSRSLDTNGDCSRLVADGWLELQLADSESAIRLLAASLRLRARWESALDRQLAH
QAQQQLEEEEEDTPVSPKEVATLSKELLQFTASKIPYSLRRLTGLEVQNMYVGPQTIPAT
PHLPGLFGSSTLSPHPTKGGYAVTDFLTYNCLTNDTDLYSDCLRTFWTCPHCGLHAPLTP
LERIAHENTCPQAPQDGPPGAEEAALETLQKTSVLQRPYHCEACGKDFLFTPTEVLRHRK
QHV

Sequence length

1143

Interactions

View interactions

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Likely pathogenic; Pathogenic	rs549149043, rs764483792	RCV000853111 RCV000853113
Microcephaly	Likely pathogenic	rs549149043	RCV000853111
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs549149043, rs764483792	RCV000853111 RCV000853113
Neurodevelopmental disorder	Pathogenic	rs764483792	RCV002249548
Neurodevelopmental disorders	Likely pathogenic; Pathogenic	rs1599751192, rs549149043, rs764483792	RCV001261684 RCV001261683 RCV001261685
Seizure	Pathogenic	rs764483792	RCV000853113
Short stature	Likely pathogenic	rs549149043	RCV000853111
Unilateral renal agenesis	Likely pathogenic	rs549149043	RCV000853111

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs142828801	RCV005938643
Clear cell carcinoma of kidney	Likely benign	rs142828801	RCV005938646
Colon adenocarcinoma	Likely benign	rs142828801	RCV005938642
DHX34-associated thromobocytopenia	Uncertain significance	rs893279710	RCV003444438
DHX34-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs564281782, rs142828801, rs2547390, rs199562453, rs2245046, rs34802163, rs12984558, rs28522883, rs2694556, rs78657998, rs115851317, rs144080741, rs141740339, rs373422732, rs774630959 View all (19 more)	RCV003973740 RCV003919729 RCV003974386 RCV003904297 RCV003967399 RCV003979379 RCV003964440 RCV003964473 RCV003984513 RCV003917181 RCV003931528 RCV003939576 RCV003914384 RCV003944725 RCV003907376 RCV003927387 RCV003944695 RCV003981894 RCV003982160 RCV003976384 RCV003903281 RCV003903193 RCV003905798 RCV003918471 RCV003943173 RCV003918561 RCV003935962 RCV003943174 RCV003928535 RCV003955874 RCV003910439 RCV003940695 RCV003910559 RCV003920830 RCV003913254
DHX34-related Neurodevelopmental Disorder	Uncertain significance	rs769405184	RCV004799379
Familial cancer of breast	Likely benign	rs142828801	RCV005938641
Gastric cancer	Uncertain significance	rs202114364	RCV005937439
Hepatocellular carcinoma	Likely benign	rs142828801	RCV005938645
Lung cancer	Likely benign	rs142828801	RCV005938650
Malignant tumor of urinary bladder	Likely benign	rs142828801	RCV005938644
Melanoma	Likely benign	rs142828801	RCV005938649
Moderate intellectual disability	Uncertain significance	rs765303661, rs201994922	RCV003311597 RCV003311598
Ovarian serous cystadenocarcinoma	Likely benign	rs142828801, rs200724419	RCV005938647 RCV005903176
Predisposition to thrombocytopenia	Uncertain significance	rs140315831, rs769405184	RCV005055213 RCV005601728
See cases	Uncertain significance	rs79484248, rs1970118036, rs1970119935	RCV001542336 RCV001784102 RCV001291798
Thymoma	Likely benign	rs142828801	RCV005938648

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Hepatocellular	Associate	37152370
Congenital Bone Marrow Failure Syndromes	Associate	33104793
Developmental Disabilities	Associate	31256877
Diastrophic dysplasia	Associate	31256877
Infections	Inhibit	36768954
Leukemia Myeloid Acute	Associate	32098966, 33876749
Myelodysplastic Syndromes	Associate	32098966
Neoplasms	Associate	32098966

DHX34 (DExH-box helicase 34)