Aliases for DDX59 Gene

Aliases for DDX59 Gene

  • DEAD-Box Helicase 59 2 3 5
  • Zinc Finger HIT Domain-Containing Protein 5 3 4
  • Probable ATP-Dependent RNA Helicase DDX59 3 4
  • DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 59 2 3
  • DEAD Box Protein 59 3 4
  • ZNHIT5 3 4
  • EC 4
  • EC 3.6.1 54
  • OFD5 3

External Ids for DDX59 Gene

Previous GeneCards Identifiers for DDX59 Gene

  • GC01M197325
  • GC01M198859
  • GC01M171779

Summaries for DDX59 Gene

GeneCards Summary for DDX59 Gene

DDX59 (DEAD-Box Helicase 59) is a Protein Coding gene. Diseases associated with DDX59 include Orofaciodigital Syndrome V and Orofaciodigital Syndrome. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and helicase activity. An important paralog of this gene is DDX23.

Gene Wiki entry for DDX59 Gene

Additional gene information for DDX59 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 DDX59 Gene

Genomics for DDX59 Gene

GeneHancer (GH) Regulatory Elements for DDX59 Gene

Promoters and enhancers for DDX59 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 DDX59 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DDX59 gene promoter:
  • Brachyury
  • c-Myb
  • FOXO1
  • FOXO1a
  • HTF
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4

Genomic Locations for DDX59 Gene

Genomic Locations for DDX59 Gene
46,103 bases
Minus strand
46,103 bases
Minus strand

Genomic View for DDX59 Gene

Genes around DDX59 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDX59 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDX59 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDX59 Gene

Proteins for DDX59 Gene

  • Protein details for DDX59 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Probable ATP-dependent RNA helicase DDX59
    Protein Accession:
    Secondary Accessions:
    • Q6PJL2
    • Q8IVW3
    • Q9H0W3

    Protein attributes for DDX59 Gene

    619 amino acids
    Molecular mass:
    68810 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAH14183.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 433.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DDX59 Gene

    Alternative splice isoforms for DDX59 Gene


neXtProt entry for DDX59 Gene

Selected DME Specific Peptides for DDX59 Gene


Post-translational modifications for DDX59 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for DDX59 Gene

Gene Families for DDX59 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for DDX59 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56549, highly similar to Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (DDX59), transcript variant 2, mRNA (B7Z5N6_HUMAN)
  • Zinc finger HIT domain-containing protein 5 (DDX59_HUMAN)
  • DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (Q5T1V8_HUMAN)
  • DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (Q5T1W1_HUMAN)
  • DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (Q5T1W2_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • The Q motif is unique to and characteristic of the DEAD box family of RNA helicases and controls ATP binding and hydrolysis.
  • Belongs to the DEAD box helicase family. DDX59 subfamily.
  • The Q motif is unique to and characteristic of the DEAD box family of RNA helicases and controls ATP binding and hydrolysis.
  • Belongs to the DEAD box helicase family. DDX59 subfamily.
genes like me logo Genes that share domains with DDX59: view

Function for DDX59 Gene

Molecular function for DDX59 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=;.

Enzyme Numbers (IUBMB) for DDX59 Gene

Phenotypes From GWAS Catalog for DDX59 Gene

Gene Ontology (GO) - Molecular Function for DDX59 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA --
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 DDX59: view
genes like me logo Genes that share phenotypes with DDX59: view

Human Phenotype Ontology for DDX59 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDX59

Clone Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DDX59 Gene

Localization for DDX59 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDX59 Gene

Cytoplasm. Nucleus. Note=Exhibits granular localization in the nucleus, as well as in the cytoplasm.

Subcellular locations from

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 DDX59 gene
Compartment Confidence
nucleus 4
cytoskeleton 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DDX59 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DDX59: view

Pathways & Interactions for DDX59 Gene

PathCards logo

SuperPathways for DDX59 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DDX59 Gene


No data available for Pathways by source and SIGNOR curated interactions for DDX59 Gene

Drugs & Compounds for DDX59 Gene

(3) Drugs for DDX59 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 DDX59 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 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 DDX59: view

Transcripts for DDX59 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDX59

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DDX59 Gene

No ASD Table

Relevant External Links for DDX59 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DDX59 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DDX59 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DDX59 Gene

This gene is overexpressed in Testis (42.8), Placenta (8.9), and Lymph node (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DDX59 Gene

Protein tissue co-expression partners for DDX59 Gene

NURSA nuclear receptor signaling pathways regulating expression of DDX59 Gene:


SOURCE GeneReport for Unigene cluster for DDX59 Gene:


mRNA Expression by UniProt/SwissProt for DDX59 Gene:

Tissue specificity: Expressed in fibroblasts (at protein level).

Evidence on tissue expression from TISSUES for DDX59 Gene

  • Lung(4.2)
  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DDX59 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • eye
  • face
  • forehead
  • head
  • lip
  • mouth
  • skull
  • tongue
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
  • skin
genes like me logo Genes that share expression patterns with DDX59: view

No data available for mRNA differential expression in normal tissues for DDX59 Gene

Orthologs for DDX59 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DDX59 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DDX59 33 32
  • 99.19 (n)
(Canis familiaris)
Mammalia DDX59 33 32
  • 88.42 (n)
(Mus musculus)
Mammalia Ddx59 17 33 32
  • 81.53 (n)
(Rattus norvegicus)
Mammalia Ddx59 32
  • 81.5 (n)
(Monodelphis domestica)
Mammalia DDX59 33
  • 77 (a)
(Bos Taurus)
Mammalia DDX59 33 32
  • 74.26 (n)
(Ornithorhynchus anatinus)
Mammalia DDX59 33
  • 72 (a)
(Gallus gallus)
Aves DDX59 33 32
  • 72.34 (n)
(Anolis carolinensis)
Reptilia DDX59 33
  • 71 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ddx59 32
  • 65.69 (n)
Str.16783 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.3767 32
(Danio rerio)
Actinopterygii ddx59 33 32
  • 62 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP28 33
  • 24 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G02065 32
  • 52.48 (n)
Species where no ortholog for DDX59 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for DDX59 Gene

Gene Tree for DDX59 (if available)
Gene Tree for DDX59 (if available)
Evolutionary constrained regions (ECRs) for DDX59: view image

Paralogs for DDX59 Gene

(22) SIMAP similar genes for DDX59 Gene using alignment to 9 proteins:

  • B7Z5N6_HUMAN
  • H0Y6Y1_HUMAN
  • H0Y7Z8_HUMAN
  • Q5T1V5_HUMAN
  • Q5T1W1_HUMAN
genes like me logo Genes that share paralogs with DDX59: view

Variants for DDX59 Gene

Sequence variations from dbSNP and Humsavar for DDX59 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs587777067 pathogenic, Orofaciodigital syndrome 5, not provided, Orofaciodigital syndrome 5 (OFD5) [MIM:174300] 200,650,639(-) A/C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs886037652 pathogenic, Orofaciodigital syndrome 5, Orofaciodigital syndrome 5 (OFD5) [MIM:174300] 200,644,514(-) C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
VAR_035842 A breast cancer sample p.Pro77Thr
rs1403300887 uncertain-significance, not provided 200,650,603(-) T/ coding_sequence_variant, frameshift, intron_variant, non_coding_transcript_variant
rs1000012685 -- 200,664,889(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DDX59 Gene

Variant ID Type Subtype PubMed ID
esv3575438 CNV gain 25503493

Variation tolerance for DDX59 Gene

Residual Variation Intolerance Score: 68.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.96; 84.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DDX59 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDX59 Gene

Disorders for DDX59 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DDX59 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
orofaciodigital syndrome v
  • ofd5
orofaciodigital syndrome
  • orofaciodigital syndrome i
- elite association - COSMIC cancer census association via MalaCards
Search DDX59 in MalaCards View complete list of genes associated with diseases


  • Orofaciodigital syndrome 5 (OFD5) [MIM:174300]: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD5 patients show the core features of cleft palate, lobulated tongue, and polydactyly. Additional features include frontal bossing and intellectual disability. {ECO:0000269 PubMed:23972372}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DDX59

genes like me logo Genes that share disorders with DDX59: view

No data available for Genatlas for DDX59 Gene

Publications for DDX59 Gene

  1. Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. (PMID: 23972372) Shamseldin HE … Alkuraya FS (American journal of human genetics 2013) 3 4 56
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 56
  3. 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 56
  4. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 56
  5. ΔNp63α Suppresses TGFB2 Expression and RHOA Activity to Drive Cell Proliferation in Squamous Cell Carcinomas. (PMID: 30232004) Abraham CG … Espinosa JM (Cell reports 2018) 3 56

Products for DDX59 Gene

Sources for DDX59 Gene