Gene Gene information from NCBI Gene database.
Entrez ID 79665
Gene name DEAH-box helicase 40
Gene symbol DHX40
Synonyms (NCBI Gene)
ARG147DDX40PAD
Chromosome 17
Chromosome location 17q23.1
Summary This gene encodes a member of the DExH/D box family of ATP-dependent RNA helicases that have an essential role in RNA metabolism. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 17.[provided by
miRNA miRNA information provided by mirtarbase database.
424
miRTarBase ID miRNA Experiments Reference
MIRT001554 hsa-miR-155-5p pSILAC 18668040
MIRT001554 hsa-miR-155-5p Proteomics 18668040
MIRT001554 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT042075 hsa-miR-484 CLASH 23622248
MIRT038708 hsa-miR-29b-2-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding IBA
GO:0003724 Function RNA helicase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607570 18018 ENSG00000108406
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IX18
Protein name Probable ATP-dependent RNA helicase DHX40 (EC 3.6.4.13) (DEAH box protein 40) (Protein PAD)
Protein function Probable ATP-dependent RNA helicase.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00270 DEAD 53 221 DEAD/DEAH box helicase Domain
PF00271 Helicase_C 253 401 Helicase conserved C-terminal domain Family
PF04408 HA2 463 605 Helicase associated domain (HA2) Domain
PF07717 OB_NTP_bind 619 699 Oligonucleotide/oligosaccharide-binding (OB)-fold Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:12522690}.
Sequence
Sequence length 779
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
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
RETINITIS PIGMENTOSA 1 CTD
★★☆☆☆
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
Acute Coronary Syndrome Coronary Syndrome BEFREE 31081301
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 29682277
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 31846473
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 18550062
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 2212795, 23642611, 30369315, 30486720, 31102799
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 2212795, 23642611, 30369315, 30486720, 31102799
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 14743135, 28816530, 28816537, 31081301
★☆☆☆☆
Found in Text Mining only
Carotid Stenosis Carotid artery stenosis BEFREE 29276105
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 22224829, 23642611, 30511258
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease BEFREE 28816537, 30850237
★☆☆☆☆
Found in Text Mining only