Gene Gene information from NCBI Gene database.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615475 16719 ENSG00000134815
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
SQASAEQRKGRAGRTG
PGVCFRLYAESDYDAFAPYPVPEIRRVALDSLVLQMKSMSVGDP
RTFPFIEPPPPASLETAILYLRDQGALDSSEALTPIGSLLAQLPVDVVIGKMLILGSMFS
LVEPVLTIAAALSVQSPFTRSAQSSPECAAARRPLESDQGDPFTLFNVFNAWVQVKSERS
RNSRKWCRRRGIEEHRLYEMANLRRQFKELLEDHGLLAGAQAAQVGDSYSRLQQRRERRA
LHQLKRQHEEGAGRRRKVLRLQEEQDG
GSSDEDRAGPAPPGASDGVDIQDVKFKLRHDLA
QLQAAASSAQDLSREQLALLKLVLGRGLYPQLAVPDAFNSSRKDSDQIFHTQAKQGAVLH
PTCVFAGSPEVLHAQELEASNCDGSRDDKDKMSSKHQLLSFVSLLETNKPYLVNCVRIPA
LQSLLLFSRSL
DTNGDCSRLVADGWLELQLADSESAIRLLAASLRLRARWESALDRQLAH
QAQQQLEEEEEDTPVSPKEVATLSKELLQFTASKIPYSLRRLTGLEVQNMYVGPQTIPAT
PHLPGLFGSSTLSPHPTKGGYAVTDFLTYNCLTNDTDLYSDCLRTFWTCPHCGLHAPLTP
LERIAHENTCPQAPQDGPPGAEEAALETLQKTSVLQRPYHCEACGKDFLFTPTEVLRHRK
QHV
Sequence length 1143
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual disability Likely pathogenic; Pathogenic rs549149043, rs764483792 RCV000853111
RCV000853113
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly Likely pathogenic rs549149043 RCV000853111
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay Likely pathogenic; Pathogenic rs549149043, rs764483792 RCV000853111
RCV000853113
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder Pathogenic rs764483792 RCV002249548
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DHX34-associated thromobocytopenia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 21741967, 23132961, 23333628, 26619301, 30168182, 8732234
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis CTD_human_DG 23333628
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 15514212, 7717464
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 15661077, 23448392, 25295384, 30168182
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 15661077, 25295384, 26635083 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 25909280 Stimulate
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 18627030
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis CTD_human_DG 25020133
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 7717464
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 7717464 Associate
★☆☆☆☆
Found in Text Mining only