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DDX52 (DExD-box helicase 52)

Identity

Alias_namesDEAD (Asp-Glu-Ala-Asp) box polypeptide 52
DEAD-box helicase 52
Alias_symbol (synonym)ROK1
Other aliasHUSSY19
HGNC (Hugo) DDX52
LocusID (NCBI) 11056
Atlas_Id 47302
Location 17q12  [Link to chromosome band 17q12]
Location_base_pair Starts at 37609741 and ends at 37643464 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  11056  DExD-box helicase 52
AliasesHUSSY19; ROK1
GeneCards (Weizmann)DDX52
Ensembl hg19 (Hinxton)ENSG00000278053 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000278053 [Gene_View]  chr17:37609741-37643464 [Contig_View]  DDX52 [Vega]
ICGC DataPortalENSG00000278053
TCGA cBioPortalDDX52
AceView (NCBI)DDX52
Genatlas (Paris)DDX52
WikiGenes11056
SOURCE (Princeton)DDX52
Genetics Home Reference (NIH)DDX52
Genomic and cartography
GoldenPath hg38 (UCSC)DDX52  -     chr17:37609741-37643464 -  17q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DDX52  -     17q12   [Description]    (hg19-Feb_2009)
EnsemblDDX52 - 17q12 [CytoView hg19]  DDX52 - 17q12 [CytoView hg38]
Mapping of homologs : NCBIDDX52 [Mapview hg19]  DDX52 [Mapview hg38]
OMIM612500   
Gene and transcription
Genbank (Entrez)AB208938 AF077033 AJ010840 AK001245 AK001652
RefSeq transcript (Entrez)NM_001291476 NM_007010 NM_152300
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_187614
Consensus coding sequences : CCDS (NCBI)DDX52
Cluster EST : UnigeneHs.590937 [ NCBI ]
CGAP (NCI)Hs.590937
Alternative Splicing GalleryENSG00000278053
Gene ExpressionDDX52 [ NCBI-GEO ]   DDX52 [ EBI - ARRAY_EXPRESS ]   DDX52 [ SEEK ]   DDX52 [ MEM ]
Gene Expression Viewer (FireBrowse)DDX52 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression 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
Splice isoforms : SwissVarQ9Y2R4
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 ]   
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
DMDM Disease mutations11056
Blocks (Seattle)DDX52
PDB (SRS)3DKP   
PDB (PDBSum)3DKP   
PDB (IMB)3DKP   
PDB (RSDB)3DKP   
Structural Biology KnowledgeBase3DKP   
SCOP (Structural Classification of Proteins)3DKP   
CATH (Classification of proteins structures)3DKP   
SuperfamilyQ9Y2R4
Human Protein Atlas [tissue]ENSG00000278053-DDX52 [tissue]
Peptide AtlasQ9Y2R4
HPRD09911
IPIIPI00032423   IPI00394982   IPI01010890   IPI01012258   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2R4
IntAct (EBI)Q9Y2R4
FunCoupENSG00000278053
BioGRIDDDX52
STRING (EMBL)DDX52
ZODIACDDX52
Ontologies - Pathways
QuickGOQ9Y2R4
Ontology : AmiGORNA binding  ATP-dependent RNA helicase activity  ATP binding  nucleoplasm  nucleolus  rRNA processing  rRNA processing  RNA secondary structure unwinding  membrane  
Ontology : EGO-EBIRNA binding  ATP-dependent RNA helicase activity  ATP binding  nucleoplasm  nucleolus  rRNA processing  rRNA processing  RNA secondary structure unwinding  membrane  
NDEx NetworkDDX52
Atlas of Cancer Signalling NetworkDDX52
Wikipedia pathwaysDDX52
Orthology - Evolution
OrthoDB11056
GeneTree (enSembl)ENSG00000278053
Phylogenetic Trees/Animal Genes : TreeFamDDX52
HOVERGENQ9Y2R4
HOGENOMQ9Y2R4
Homologs : HomoloGeneDDX52
Homology/Alignments : Family Browser (UCSC)DDX52
Gene fusions - Rearrangements
Fusion : MitelmanDDX52/ARL17A [17q12/17q21.31]  
Fusion : MitelmanDDX52/TMIGD1 [17q12/17q11.2]  [t(17;17)(q11;q12)]  
Fusion: TCGADDX52 17q12 TMIGD1 17q11.2 BRCA
Fusion: Tumor Portal DDX52
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDDX52 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DDX52
dbVarDDX52
ClinVarDDX52
1000_GenomesDDX52 
Exome Variant ServerDDX52
ExAC (Exome Aggregation Consortium)ENSG00000278053
GNOMAD BrowserENSG00000278053
Genetic variants : HAPMAP11056
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)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DDX52
DgiDB (Drug Gene Interaction Database)DDX52
DoCM (Curated mutations)DDX52 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DDX52 (select a term)
intoGenDDX52
Cancer3DDDX52(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612500   
Orphanet
MedgenDDX52
Genetic Testing Registry DDX52
NextProtQ9Y2R4 [Medical]
TSGene11056
GENETestsDDX52
Target ValidationDDX52
Huge Navigator DDX52 [HugePedia]
snp3D : Map Gene to Disease11056
BioCentury BCIQDDX52
ClinGenDDX52
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11056
Chemical/Pharm GKB GenePA134904836
Clinical trialDDX52
Miscellaneous
canSAR (ICR)DDX52 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDDX52
EVEXDDX52
GoPubMedDDX52
iHOPDDX52
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 12:47:07 CET 2017

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