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DDX52 (DExD-box helicase 52)

Identity

Alias (NCBI)HUSSY19
ROK1
HGNC (Hugo) DDX52
HGNC Alias symbROK1
HGNC Previous nameDEAD (Asp-Glu-Ala-Asp) box polypeptide 52
 DEAD-box helicase 52
LocusID (NCBI) 11056
Atlas_Id 47302
Location 17q12  [Link to chromosome band 17q12]
Location_base_pair Starts at 37609741 and ends at 37643446 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ACACA (17q12) / DDX52 (17q12)DDX52 (17q12) / ARL17A (17q21.31)DDX52 (17q12) / TMIGD1 (17q11.2)
ZHX2 (8q24.13) / DDX52 (17q12)DDX52 17q12 / TMIGD1 17q11.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)DDX52   20038
Cards
Entrez_Gene (NCBI)DDX52    DExD-box helicase 52
AliasesHUSSY19; ROK1
GeneCards (Weizmann)DDX52
Ensembl hg19 (Hinxton)ENSG00000278053 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000278053 [Gene_View]  ENSG00000278053 [Sequence]  chr17:37609741-37643446 [Contig_View]  DDX52 [Vega]
ICGC DataPortalENSG00000278053
TCGA cBioPortalDDX52
AceView (NCBI)DDX52
Genatlas (Paris)DDX52
SOURCE (Princeton)DDX52
Genetics Home Reference (NIH)DDX52
Genomic and cartography
GoldenPath hg38 (UCSC)DDX52  -     chr17:37609741-37643446 -  17q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DDX52  -     17q12   [Description]    (hg19-Feb_2009)
GoldenPathDDX52 - 17q12 [CytoView hg19]  DDX52 - 17q12 [CytoView hg38]
ImmunoBaseENSG00000278053
Genome Data Viewer NCBIDDX52 [Mapview hg19]  
OMIM612500   
Gene and transcription
Genbank (Entrez)AB208938 AF077033 AJ010840 AK001245 AK001652
RefSeq transcript (Entrez)NM_001291476 NM_007010 NM_152300
Consensus coding sequences : CCDS (NCBI)DDX52
Gene ExpressionDDX52 [ NCBI-GEO ]   DDX52 [ EBI - ARRAY_EXPRESS ]   DDX52 [ SEEK ]   DDX52 [ MEM ]
Gene Expression Viewer (FireBrowse)DDX52 [ Firebrowse - Broad ]
GenevisibleExpression of DDX52 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11056
GTEX Portal (Tissue expression)DDX52
Human Protein AtlasENSG00000278053-DDX52 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y2R4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y2R4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y2R4
Catalytic activity : Enzyme3.6.4.13 [ Enzyme-Expasy ]   3.6.4.133.6.4.13 [ IntEnz-EBI ]   3.6.4.13 [ BRENDA ]   3.6.4.13 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ9Y2R4
Domaine pattern : Prosite (Expaxy)HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)    Q_MOTIF (PS51195)   
Domains : Interpro (EBI)DEAD/DEAH_box_helicase_dom    Helicase_ATP-bd    Helicase_C    P-loop_NTPase    RNA_helicase_DEAD_Q_motif   
Domain families : Pfam (Sanger)DEAD (PF00270)    Helicase_C (PF00271)   
Domain families : Pfam (NCBI)pfam00270    pfam00271   
Domain families : Smart (EMBL)DEXDc (SM00487)  HELICc (SM00490)  
Conserved Domain (NCBI)DDX52
PDB (RSDB)3DKP   
PDB Europe3DKP   
PDB (PDBSum)3DKP   
PDB (IMB)3DKP   
Structural Biology KnowledgeBase3DKP   
SCOP (Structural Classification of Proteins)3DKP   
CATH (Classification of proteins structures)3DKP   
SuperfamilyQ9Y2R4
AlphaFold pdb e-kbQ9Y2R4   
Human Protein Atlas [tissue]ENSG00000278053-DDX52 [tissue]
HPRD09911
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2R4
IntAct (EBI)Q9Y2R4
BioGRIDDDX52
STRING (EMBL)DDX52
ZODIACDDX52
Ontologies - Pathways
QuickGOQ9Y2R4
Ontology : AmiGORNA binding  RNA helicase activity  ATP binding  nucleoplasm  nucleolus  rRNA processing  membrane  hydrolase activity  maturation of SSU-rRNA  
Ontology : EGO-EBIRNA binding  RNA helicase activity  ATP binding  nucleoplasm  nucleolus  rRNA processing  membrane  hydrolase activity  maturation of SSU-rRNA  
NDEx NetworkDDX52
Atlas of Cancer Signalling NetworkDDX52
Wikipedia pathwaysDDX52
Orthology - Evolution
OrthoDB11056
GeneTree (enSembl)ENSG00000278053
Phylogenetic Trees/Animal Genes : TreeFamDDX52
Homologs : HomoloGeneDDX52
Homology/Alignments : Family Browser (UCSC)DDX52
Gene fusions - Rearrangements
Fusion : MitelmanDDX52/ARL17A [17q12/17q21.31]  
Fusion : MitelmanDDX52/TMIGD1 [17q12/17q11.2]  
Fusion : QuiverDDX52
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDDX52 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DDX52
dbVarDDX52
ClinVarDDX52
MonarchDDX52
1000_GenomesDDX52 
Exome Variant ServerDDX52
GNOMAD BrowserENSG00000278053
Varsome BrowserDDX52
ACMGDDX52 variants
VarityQ9Y2R4
Genomic Variants (DGV)DDX52 [DGVbeta]
DECIPHERDDX52 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDDX52 
Mutations
ICGC Data PortalDDX52 
TCGA Data PortalDDX52 
Broad Tumor PortalDDX52
OASIS PortalDDX52 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDDDX52
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaDDX52
DgiDB (Drug Gene Interaction Database)DDX52
DoCM (Curated mutations)DDX52
CIViC (Clinical Interpretations of Variants in Cancer)DDX52
Cancer3DDDX52
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612500   
Orphanet
DisGeNETDDX52
MedgenDDX52
Genetic Testing Registry DDX52
NextProtQ9Y2R4 [Medical]
GENETestsDDX52
Target ValidationDDX52
Huge Navigator DDX52 [HugePedia]
ClinGenDDX52
Clinical trials, drugs, therapy
MyCancerGenomeDDX52
Protein Interactions : CTDDDX52
Pharm GKB GenePA134904836
PharosQ9Y2R4
Clinical trialDDX52
Miscellaneous
canSAR (ICR)DDX52
HarmonizomeDDX52
DataMed IndexDDX52
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXDDX52
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:06:25 CEST 2021

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