Gene Gene information from NCBI Gene database.
Entrez ID 1655
Gene name DEAD-box helicase 5
Gene symbol DDX5
Synonyms (NCBI Gene)
G17P1HLR1HUMP68p68
Chromosome 17
Chromosome location 17q23.3
Summary This gene encodes a member of the DEAD box family of RNA helicases that are involved in a variety of cellular processes as a result of its role as an adaptor molecule, promoting interactions with a large number of other factors. This protein is involved i
miRNA miRNA information provided by mirtarbase database.
728
miRTarBase ID miRNA Experiments Reference
MIRT003236 hsa-miR-205-5p Luciferase reporter assay 20065103
MIRT002799 hsa-miR-1-3p pSILAC 18668040
MIRT002799 hsa-miR-1-3p Microarray 15685193
MIRT019588 hsa-miR-340-5p Sequencing 20371350
MIRT020195 hsa-miR-130b-3p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
72
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 15298701
GO:0000166 Function Nucleotide binding IEA
GO:0000380 Process Alternative mRNA splicing, via spliceosome IBA
GO:0000380 Process Alternative mRNA splicing, via spliceosome IMP 24275493, 24910439
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome IDA 21343338
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
180630 2746 ENSG00000108654
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P17844
Protein name Probable ATP-dependent RNA helicase DDX5 (EC 3.6.4.13) (DEAD box protein 5) (RNA helicase p68)
Protein function Involved in the alternative regulation of pre-mRNA splicing; its RNA helicase activity is necessary for increasing tau exon 10 inclusion and occurs in a RBM4-dependent manner. Binds to the tau pre-mRNA in the stem-loop region downstream of exon
PDB 3FE2 , 4A4D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00270 DEAD 118 289 DEAD/DEAH box helicase Domain
PF00271 Helicase_C 324 436 Helicase conserved C-terminal domain Family
PF08061 P68HR 498 532 P68HR (NUC004) repeat Repeat
PF08061 P68HR 551 583 P68HR (NUC004) repeat Repeat
Sequence
MSGYSSDRDRGRDRGFGAPRFGGSRAGPLSGKKFGNPGEKLVKKKWNLDELPKFEKNFYQ
EHPDLARRTAQEVETYRRSKEITVRGHNCPKPVLNFYEANFPANVMDVIARQNFTEPTAI
QAQGWPVALSGLDMVGVAQTGSGKTLSYLLPAIVHINHQPFLERGDGPICLVLAPTRELA
QQVQQVAAEYCRACRLKSTCIYGGAPKGPQIRDLERGVEICIATPGRLIDFLECGKTNLR
RTTYLVLDEADRMLDMGFEPQIRKIVDQIRPDRQTLMWSATWPKEVRQL
AEDFLKDYIHI
NIGALELSANHNILQIVDVCHDVEKDEKLIRLMEEIMSEKENKTIVFVETKRRCDELTRK
MRRDGWPAMGIHGDKSQQERDWVLNEFKHGKAPILIATDVASRGLDVEDVKFVINYDYPN
SSEDYIHRIGRTARST
KTGTAYTFFTPNNIKQVSDLISVLREANQAINPKLLQLVEDRGS
GRSRGRGGMKDDRRDRYSAGKRGGFNTFRDRENYDRGYSSLLKRDFGAKTQNGVYSAANY
TNGSFGSNFVSAGIQTSFRTGNPTGTYQNGYDSTQQYGSNVPNMHNGMNQQAYAYPATAA
APMIGYPMPTGYSQ
Sequence length 614
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Spliceosome
Transcriptional misregulation in cancer
Proteoglycans in cancer
  SUMOylation of transcription cofactors
mRNA Splicing - Major Pathway
Estrogen-dependent gene expression
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Global developmental delay Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anaplasia Anaplasia BEFREE 28165114
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 35751199 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atypical Ductal Breast Hyperplasia Breast Hyperplasia BEFREE 7501973
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 1697098
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 19718048, 21766210, 22086602, 22750847, 25499975, 30417346, 31015574, 7501973
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 20663877, 22086602, 24626184, 33634895 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 28443473, 36996491 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 30281815 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Basal Cell Basal cell carcinoma Pubtator 31870221 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 30281815, 33042264, 34021034, 38036507 Associate
★☆☆☆☆
Found in Text Mining only