Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79665
Gene name Gene Name - the full gene name approved by the HGNC.
DEAH-box helicase 40
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DHX40
Synonyms (NCBI Gene) Gene synonyms aliases
ARG147, DDX40, PAD
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q23.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding IBA 21873635
GO:0003724 Function RNA helicase activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005524 Function ATP binding IEA
GO:0005622 Component Intracellular anatomical structure IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607570 18018 ENSG00000108406
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Ectodermal dysplasia Ectodermal Dysplasia rs74315309, rs121908116, rs1558814967, rs121908450, rs121908452, rs121908453, rs797044435, rs121908454, rs121908455, rs121908456, rs797044436, rs797044437, rs137853324, rs137853325, rs137853326
View all (42 more)
Associations from Text Mining
Disease Name Relationship Type References
Scoliosis Associate 34440387