Aliases for DDX52 Gene

Aliases for DDX52 Gene

  • DExD-Box Helicase 52 2 3 5
  • Probable ATP-Dependent RNA Helicase DDX52 3 4
  • 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
  • ATP-Dependent RNA Helicase ROK1-Like 4
  • EC 3.6.4.13 4
  • EC 3.6.1 52
  • 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 and Robinow Syndrome, Autosomal Dominant 1. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and hydrolase activity. An important paralog of this gene is DDX59.

Gene Wiki entry for DDX52 Gene

Additional gene information for DDX52 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DDX52 Gene

Genomics for DDX52 Gene

GeneHancer (GH) Regulatory Elements for DDX52 Gene

Promoters and enhancers for DDX52 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DDX52 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DDX52

Top Transcription factor binding sites by QIAGEN in the DDX52 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • ER-alpha
  • p53
  • POU2F1
  • POU2F1a

Genomic Locations for DDX52 Gene

Genomic Locations for DDX52 Gene
chr17:37,609,739-37,643,464
(GRCh38/hg38)
Size:
33,726 bases
Orientation:
Minus strand
chr17:35,969,787-36,003,493
(GRCh37/hg19)
Size:
33,707 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; 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; 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

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for DDX52 Gene

Blocks:
  • ATP-dependent helicase, DEAD-box
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DDX52 Gene

GenScript: Design optimal peptide antigens:
  • DEAD box protein 52 (DDX52_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y2R4

UniProtKB/Swiss-Prot:

DDX52_HUMAN :
  • Belongs to the DEAD box helicase family. DDX52/ROK1 subfamily.
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:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13;.

Enzyme Numbers (IUBMB) for DDX52 Gene

Phenotypes From GWAS Catalog 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 IBA 21873635
GO:0003724 RNA helicase activity IEA --
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:
  • Ddx52 Ddx52<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for DDX52 Gene

miRTarBase miRNAs that target DDX52

Clone 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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DDX52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA --
GO:0016020 membrane HDA 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

Gene Ontology (GO) - Biological Process for DDX52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006364 rRNA processing TAS --
GO:0030490 maturation of SSU-rRNA IBA 21873635
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
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with DDX52: view

Transcripts for DDX52 Gene

mRNA/cDNA for DDX52 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DDX52

SOURCE GeneReport for Unigene cluster for DDX52 Gene:

Hs.590937

Evidence on tissue expression from TISSUES for DDX52 Gene

  • Liver(4.2)
  • Spleen(4.2)
genes like me logo Genes that share expression patterns with DDX52: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia DDX52 30
  • 92.92 (n)
cow
(Bos Taurus)
Mammalia DDX52 30
  • 91.55 (n)
mouse
(Mus musculus)
Mammalia Ddx52 17 30
  • 86.66 (n)
rat
(Rattus norvegicus)
Mammalia Ddx52 30
  • 86.66 (n)
chicken
(Gallus gallus)
Aves DDX52 30
  • 72.07 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia ddx52 30
  • 73.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5589 30
  • 56.07 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012358 30
  • 52.11 (n)
worm
(Caenorhabditis elegans)
Secernentea R05D11.4 30
  • 51.37 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ROK1 30
  • 53.67 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C17424g 30
  • 53.23 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL024C 30
  • 50.9 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G09720 30
  • 53.37 (n)
rice
(Oryza sativa)
Liliopsida Os07g0647900 30
  • 53.25 (n)
Os.11258 30
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rok1 30
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DDX52: view image

Paralogs for DDX52 Gene

(19) SIMAP similar genes for DDX52 Gene using alignment to 6 proteins:

  • DDX52_HUMAN
  • A8MTP9_HUMAN
  • F5H0R7_HUMAN
  • F5H5G9_HUMAN
  • K7ELL1_HUMAN
  • K7EMK0_HUMAN
genes like me logo Genes that share paralogs with DDX52: view

Variants for DDX52 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DDX52 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs7216445 - p.Met403Val

Additional dbSNP identifiers (rs#s) for DDX52 Gene

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)

Additional Variant Information for DDX52 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for DDX52 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search DDX52 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 (Chichester, England) 2001) 2 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. Functional proteomic analysis of human nucleolus. (PMID: 12429849) Scherl A … Diaz JJ (Molecular biology of the cell 2002) 3 4 54
  5. PPARγ Interaction with UBR5/ATMIN Promotes DNA Repair to Maintain Endothelial Homeostasis. (PMID: 30699358) Li CG … Rabinovitch M (Cell reports 2019) 3 54

Products for DDX52 Gene

Sources for DDX52 Gene