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Aliases for DDX52 Gene

Aliases for DDX52 Gene

  • DExD-Box Helicase 52 2 3 5
  • DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 52 2 3
  • DEAD-Box Helicase 52 2 3
  • DEAD Box Protein 52 3 4
  • ROK1 3 4
  • Probable ATP-Dependent RNA Helicase DDX52 3
  • ATP-Dependent RNA Helicase ROK1-Like 4
  • EC 3.6.4.13 4
  • EC 3.6.1 61
  • HUSSY19 3

External Ids for DDX52 Gene

Previous GeneCards Identifiers for DDX52 Gene

  • GC17M035703
  • GC17M036168
  • GC17M036167
  • GC17M033047
  • GC17M035969
  • GC17M031909

Summaries for DDX52 Gene

GeneCards Summary for DDX52 Gene

DDX52 (DExD-Box Helicase 52) is a Protein Coding gene. Diseases associated with DDX52 include Chromosome 17Q12 Deletion Syndrome. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. GO annotations related to this gene include nucleic acid binding and hydrolase activity.

Gene Wiki entry for DDX52 Gene

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DDX52 Gene

Genomics for DDX52 Gene

Regulatory Elements for DDX52 Gene

Enhancers for DDX52 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F037603 1.1 ENCODE 21.5 +36.0 36041 7.2 HDGF PKNOX1 MLX WRNIP1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 SYNRG DDX52 ENSG00000277501 GC17P037579
GH17F037613 1 ENCODE 17.4 +28.8 28836 1.9 PKNOX1 ATF1 MLX ARID4B FEZF1 ZNF48 YY1 SLC30A9 FOS NFYC DDX52 ENSG00000277688 MIR378J
GH17F037673 1 ENCODE 11.6 -32.4 -32366 4.7 PKNOX1 ATF1 MLX ARID4B ZNF48 ZNF143 JUNB MXD4 TBX21 KAT8 DDX52 HNF1B SYNRG GC17P037657 LOC105371754
GH17F037670 1 Ensembl ENCODE 11.6 -28.2 -28233 2.8 GATAD2A SAP130 FOXA3 CEBPB KAT8 ZFHX2 JUND SCRT2 CEBPA PRDM10 DDX52 HNF1B GC17P037657 LOC105371754
GH17F037486 1.2 ENCODE 8.6 +152.7 152704 8.2 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 TADA2A DUSP14 ACACA DDX52 SYNRG MRPL45 GC17M037483 PIR41271
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DDX52 on UCSC Golden Path with GeneCards custom track

Promoters for DDX52 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001345241 364 2201 ATF1 PKNOX1 MLX ZNF133 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF143

Genomic Location for DDX52 Gene

Chromosome:
17
Start:
37,609,739 bp from pter
End:
37,643,464 bp from pter
Size:
33,726 bases
Orientation:
Minus strand

Genomic View for DDX52 Gene

Genes around DDX52 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDX52 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDX52 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDX52 Gene

Proteins for DDX52 Gene

  • Protein details for DDX52 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2R4-DDX52_HUMAN
    Recommended name:
    Probable ATP-dependent RNA helicase DDX52
    Protein Accession:
    Q9Y2R4
    Secondary Accessions:
    • Q86YG1
    • Q8N213
    • Q9NVE0
    • Q9Y482

    Protein attributes for DDX52 Gene

    Size:
    599 amino acids
    Molecular mass:
    67498 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD27766.1; Type=Frameshift; Positions=324, 327, 330, 350, 365, 377; Evidence={ECO:0000305}; Sequence=AK093661; Type=Miscellaneous discrepancy; Note=Cloning artifact.; Evidence={ECO:0000305}; Sequence=BAA91812.1; Type=Miscellaneous discrepancy; Note=Cloning artifact.; Evidence={ECO:0000305}; Sequence=CAA09374.1; Type=Frameshift; Positions=355, 377; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DDX52 Gene

neXtProt entry for DDX52 Gene

Selected DME Specific Peptides for DDX52 Gene

Q9Y2R4:
  • VIHAERT
  • LARGIDFKG
  • PPVLVFV
  • DESDKLFE
  • NVDVIHA
  • TGSGKTLA
  • APTGSGKT
  • VINYDFP
  • HRIGRTGR
  • IISPTREL
  • SPTRELA
  • PTRELASQ
  • RAMFSATFAYDVEQWC
  • GRTGRAG
  • DFKGVNLVINYD
  • YIHRIGR

Post-translational modifications for DDX52 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for DDX52 Gene

Gene Families for DDX52 Gene

Suggested Antigen Peptide Sequences for DDX52 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y2R4

UniProtKB/Swiss-Prot:

DDX52_HUMAN :
  • Contains 1 helicase ATP-binding domain.
  • Belongs to the DEAD box helicase family. DDX52/ROK1 subfamily.
Domain:
  • Contains 1 helicase ATP-binding domain.
  • Contains 1 helicase C-terminal domain.
Family:
  • Belongs to the DEAD box helicase family. DDX52/ROK1 subfamily.
genes like me logo Genes that share domains with DDX52: view

Function for DDX52 Gene

Molecular function for DDX52 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.

Enzyme Numbers (IUBMB) for DDX52 Gene

Gene Ontology (GO) - Molecular Function for DDX52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA --
GO:0004004 ATP-dependent RNA helicase activity IBA --
GO:0004386 helicase activity IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with DDX52: view
genes like me logo Genes that share phenotypes with DDX52: view

Animal Models for DDX52 Gene

MGI Knock Outs for DDX52:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DDX52 Gene

Localization for DDX52 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDX52 Gene

Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DDX52 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for DDX52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with DDX52: view

Pathways & Interactions for DDX52 Gene

genes like me logo Genes that share pathways with DDX52: view

Interacting Proteins for DDX52 Gene

Selected Interacting proteins: Q9Y2R4-DDX52_HUMAN for DDX52 Gene via IID

Gene Ontology (GO) - Biological Process for DDX52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006364 rRNA processing TAS --
GO:0010501 RNA secondary structure unwinding IBA --
genes like me logo Genes that share ontologies with DDX52: view

No data available for SIGNOR curated interactions for DDX52 Gene

Drugs & Compounds for DDX52 Gene

(3) Drugs for DDX52 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0

(1) Additional Compounds for DDX52 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with DDX52: view

Transcripts for DDX52 Gene

Unigene Clusters for DDX52 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 52:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DDX52 Gene

No ASD Table

Relevant External Links for DDX52 Gene

GeneLoc Exon Structure for
DDX52
ECgene alternative splicing isoforms for
DDX52

Expression for DDX52 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DDX52 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DDX52 Gene

This gene is overexpressed in Lung (32.2) and Peripheral blood mononuclear cells (13.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DDX52 Gene



Protein tissue co-expression partners for DDX52 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DDX52 Gene:

DDX52

SOURCE GeneReport for Unigene cluster for DDX52 Gene:

Hs.590937
genes like me logo Genes that share expression patterns with DDX52: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DDX52 Gene

Orthologs for DDX52 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DDX52 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DDX52 34
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia DDX52 34
  • 92.92 (n)
cow
(Bos Taurus)
Mammalia DDX52 34
  • 91.55 (n)
mouse
(Mus musculus)
Mammalia Ddx52 34 16
  • 86.66 (n)
rat
(Rattus norvegicus)
Mammalia Ddx52 34
  • 86.66 (n)
chicken
(Gallus gallus)
Aves DDX52 34
  • 72.07 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia ddx52 34
  • 73.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5589 34
  • 56.07 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012358 34
  • 52.11 (n)
worm
(Caenorhabditis elegans)
Secernentea R05D11.4 34
  • 51.37 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ROK1 34
  • 53.67 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C17424g 34
  • 53.23 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL024C 34
  • 50.9 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G09720 34
  • 53.37 (n)
rice
(Oryza sativa)
Liliopsida Os07g0647900 34
  • 53.25 (n)
Os.11258 34
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rok1 34
  • 53.44 (n)
Species where no ortholog for DDX52 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for DDX52 Gene

ENSEMBL:
Gene Tree for DDX52 (if available)
TreeFam:
Gene Tree for DDX52 (if available)

Paralogs for DDX52 Gene

genes like me logo Genes that share paralogs with DDX52: view

No data available for Paralogs for DDX52 Gene

Variants for DDX52 Gene

Sequence variations from dbSNP and Humsavar for DDX52 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs10512476 -- 37,620,780(-) GGCTA(C/T)GTCCC intron-variant
rs10673620 -- 37,627,723(+) AAAAA(-/A/AA)TGAAA intron-variant
rs111349348 -- 37,625,074(+) GATCT(C/T)GGCCC intron-variant
rs111437712 -- 37,634,191(+) TGATC(C/T)GCCCG intron-variant, upstream-variant-2KB
rs111477111 -- 37,641,385(+) CAACA(A/C)AGCGA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for DDX52 Gene

Variant ID Type Subtype PubMed ID
esv3640494 CNV gain 21293372
esv3640501 CNV gain 21293372
nsv833431 CNV gain 17160897
nsv953887 CNV duplication 24416366

Variation tolerance for DDX52 Gene

Residual Variation Intolerance Score: 71.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.97; 49.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DDX52 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDX52

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDX52 Gene

Disorders for DDX52 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DDX52 Gene - From: DISEASES

Disorder Aliases PubMed IDs
chromosome 17q12 deletion syndrome
  • 17q12 microdeletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search DDX52 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DDX52

Genetic Association Database (GAD)
DDX52
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DDX52
genes like me logo Genes that share disorders with DDX52: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DDX52 Gene

Publications for DDX52 Gene

  1. Characterization of 16 novel human genes showing high similarity to yeast sequences. (PMID: 11124703) Stanchi F. … Valle G. (Yeast 2001) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Functional proteomic analysis of human nucleolus. (PMID: 12429849) Scherl A. … Diaz J.-J. (Mol. Biol. Cell 2002) 3 4 64
  5. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3 64

Products for DDX52 Gene

Sources for DDX52 Gene

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