Gene Gene information from NCBI Gene database.
Entrez ID 11056
Gene name DExD-box helicase 52
Gene symbol DDX52
Synonyms (NCBI Gene)
HUSSY19ROK1
Chromosome 17
Chromosome location 17q12
miRNA miRNA information provided by mirtarbase database.
343
miRTarBase ID miRNA Experiments Reference
MIRT031427 hsa-miR-16-5p Proteomics 18668040
MIRT551090 hsa-miR-1277-5p PAR-CLIP 21572407
MIRT551088 hsa-miR-8066 PAR-CLIP 21572407
MIRT551089 hsa-miR-369-3p PAR-CLIP 21572407
MIRT551087 hsa-miR-5692b PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IEA
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
612500 20038 ENSG00000278053
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2R4
Protein name Probable ATP-dependent RNA helicase DDX52 (EC 3.6.4.13) (ATP-dependent RNA helicase ROK1-like) (DEAD box protein 52)
Protein function Required for efficient ribosome biogenesis (By similarity). May control cell cycle progression by regulating translation of mRNAs that contain a terminal oligo pyrimidine (TOP) motif in their 5' UTRs, such as GTPBP4 (By similarity). {ECO:0000250
PDB 3DKP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00270 DEAD 189 363 DEAD/DEAH box helicase Domain
PF00271 Helicase_C 398 507 Helicase conserved C-terminal domain Family
Sequence
MDVHDLFRRLGAGAKFDTRRFSADAARFQIGKRKYDFDSSEVLQGLDFFGNKKSVPGVCG
ASQTHQKPQNGEKKEESLTERKREQSKKKRKTMTSEIASQEEGATIQWMSSVEAKIEDKK
VQRESKLTSGKLENLRKEKINFLRNKHKIHVQGTDLPDPIATFQQLDQEYKINSRLLQNI
LDAGFQMPTPIQMQAIPVMLHGRELLASAPTGSGKTLAFSIPILMQLKQPANKGFRALII
SPTRELASQIHRELIKISEGTGFRIHMIHKAAVAAKKFGPKSSKKFDILVTTPNRLIYLL
KQDPPGIDLASVEWLVVDESDKLFEDGKTGFRDQLASIFLACTSHKVRRAMFSATFAYDV
EQW
CKLNLDNVISVSIGARNSAVETVEQELLFVGSETGKLLAMRELVKKGFNPPVLVFVQ
SIERAKELFHELIYEGINVDVIHAERTQQQRDNTVHSFRAGKIWVLICTALLARGIDFKG
VNLVINYDFPTSSVEYIHRIGRTGRAG
NKGKAITFFTEDDKPLLRSVANVIQQAGCPVPE
YIKGFQKLLSKQKKKMIKKPLERESISTTPKCFLEKAKDKQKKVTGQNSKKKVALEDKS
Sequence length 599
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Major pathway of rRNA processing in the nucleolus and cytosol
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL DISEASE GWAS catalog
★★☆☆☆
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
Malignant neoplasm of prostate Prostate cancer BEFREE 16864594
★☆☆☆☆
Found in Text Mining only
Prostate carcinoma Prostate cancer BEFREE 16864594
★☆☆☆☆
Found in Text Mining only
Thrombocytopenia Thrombocytopenia Pubtator 31692082 Associate
★☆☆☆☆
Found in Text Mining only