The protein encoded by this gene is an ATP-dependent RNA helicase in the DEAD-box family and displays tumor-specific expression. [provided by RefSeq, Jul 2008] See more...

Aliases for DDX43 Gene

Aliases for DDX43 Gene

  • DEAD-Box Helicase 43 2 3 5
  • Cancer/Testis Antigen 13 2 3 4
  • Probable ATP-Dependent RNA Helicase DDX43 3 4
  • DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 43 2 3
  • DEAD Box Protein HAGE 3 4
  • Helical Antigen 3 4
  • CT13 3 4
  • HAGE 3 4
  • DEAD-Box Protein 43 3
  • DEAD Box Protein 43 4
  • EC 3.6.4.13 4
  • EC 3.6.1 52

External Ids for DDX43 Gene

Previous GeneCards Identifiers for DDX43 Gene

  • GC06P074054
  • GC06P074100
  • GC06P074161
  • GC06P071302
  • GC06P074104

Summaries for DDX43 Gene

Entrez Gene Summary for DDX43 Gene

  • The protein encoded by this gene is an ATP-dependent RNA helicase in the DEAD-box family and displays tumor-specific expression. [provided by RefSeq, Jul 2008]

CIViC Summary for DDX43 Gene

GeneCards Summary for DDX43 Gene

DDX43 (DEAD-Box Helicase 43) is a Protein Coding gene. Diseases associated with DDX43 include Rheumatoid Arthritis Interstitial Lung Disease and Benign Essential Hypertension. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and ATP-dependent RNA helicase activity. An important paralog of this gene is DDX53.

Gene Wiki entry for DDX43 Gene

Additional gene information for DDX43 Gene

No data available for UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DDX43 Gene

Genomics for DDX43 Gene

GeneHancer (GH) Regulatory Elements for DDX43 Gene

Promoters and enhancers for DDX43 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 DDX43 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DDX43

Top Transcription factor binding sites by QIAGEN in the DDX43 gene promoter:
  • AML1a
  • ER-alpha

Genomic Locations for DDX43 Gene

Genomic Locations for DDX43 Gene
chr6:73,394,562-73,417,566
(GRCh38/hg38)
Size:
23,005 bases
Orientation:
Plus strand
chr6:74,104,285-74,127,292
(GRCh37/hg19)
Size:
23,008 bases
Orientation:
Plus strand

Genomic View for DDX43 Gene

Genes around DDX43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDX43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDX43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDX43 Gene

Proteins for DDX43 Gene

  • Protein details for DDX43 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NXZ2-DDX43_HUMAN
    Recommended name:
    Probable ATP-dependent RNA helicase DDX43
    Protein Accession:
    Q9NXZ2
    Secondary Accessions:
    • B4E0C8
    • Q6NXR1

    Protein attributes for DDX43 Gene

    Size:
    648 amino acids
    Molecular mass:
    72844 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DDX43 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDX43 Gene

Selected DME Specific Peptides for DDX43 Gene

Q9NXZ2:
  • DMGFEPQ
  • VLTPTREL
  • TPTRELA
  • IIATPGR
  • HRIGRTGR
  • GRTGRAG
  • TDLASRG
  • AQTGTGKT
  • DEADKML
  • IATPGRL
  • PTRELALQ

Post-translational modifications for DDX43 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DDX43 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for DDX43 Gene

Gene Families for DDX43 Gene

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

Protein Domains for DDX43 Gene

Suggested Antigen Peptide Sequences for DDX43 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57506, highly similar to Probable ATP-dependent RNA helicase DDX43 (EC 3.6.1.-) (B4E0C8_HUMAN)
  • Helical antigen (DDX43_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NXZ2

UniProtKB/Swiss-Prot:

DDX43_HUMAN :
  • Belongs to the DEAD box helicase family.
Family:
  • Belongs to the DEAD box helicase family.
genes like me logo Genes that share domains with DDX43: view

Function for DDX43 Gene

Molecular function for DDX43 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 DDX43 Gene

Phenotypes From GWAS Catalog for DDX43 Gene

Gene Ontology (GO) - Molecular Function for DDX43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IBA,TAS 21873635
GO:0003724 RNA helicase activity TAS,IEA --
GO:0004386 helicase activity IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with DDX43: view
genes like me logo Genes that share phenotypes with DDX43: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDX43

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DDX43 Gene

Localization for DDX43 Gene

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 DDX43 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for DDX43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IBA 21873635
GO:1990904 ribonucleoprotein complex IBA 21873635
genes like me logo Genes that share ontologies with DDX43: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for DDX43 Gene

Pathways & Interactions for DDX43 Gene

PathCards logo

SuperPathways for DDX43 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DDX43 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DDX43 Gene

Drugs & Compounds for DDX43 Gene

(3) Drugs for DDX43 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 DDX43 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 DDX43: view

Transcripts for DDX43 Gene

mRNA/cDNA for DDX43 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDX43

Alternative Splicing Database (ASD) splice patterns (SP) for DDX43 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: -
SP2: - -
SP3:

Relevant External Links for DDX43 Gene

GeneLoc Exon Structure for
DDX43

Expression for DDX43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DDX43 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DDX43 Gene

This gene is overexpressed in Testis (x14.8).

Protein differential expression in normal tissues from HIPED for DDX43 Gene

This gene is overexpressed in Testis (39.7), Ovary (18.4), and Lung (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DDX43 Gene



Protein tissue co-expression partners for DDX43 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DDX43

SOURCE GeneReport for Unigene cluster for DDX43 Gene:

Hs.125507

mRNA Expression by UniProt/SwissProt for DDX43 Gene:

Q9NXZ2-DDX43_HUMAN
Tissue specificity: Expressed in testis. Expressed in many tumors of various histological types at a level that is 100-fold higher than the level observed in normal tissues except testis.
genes like me logo Genes that share expression patterns with DDX43: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DDX43 Gene

Orthologs for DDX43 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DDX43 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DDX43 31 30
  • 99.54 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ddx43 17 31 30
  • 79.66 (n)
rat
(Rattus norvegicus)
Mammalia Ddx43 30
  • 79.28 (n)
dog
(Canis familiaris)
Mammalia LOC102151353 30
  • 77.96 (n)
cow
(Bos Taurus)
Mammalia DDX43 31 30
  • 76.18 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 68 (a)
ManyToMany
-- 31
  • 63 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 60 (a)
ManyToMany
-- 31
  • 58 (a)
ManyToMany
chicken
(Gallus gallus)
Aves DDX43 30
  • 63.33 (n)
-- 31
  • 58 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 58 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ddx43 30
  • 63.13 (n)
zebrafish
(Danio rerio)
Actinopterygii ddx43 31
  • 48 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6611 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004351 30
  • 54.81 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7878 31 30
  • 52.82 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea CELE_Y54G11A.3 30
  • 48.88 (n)
Y54G11A.3 31
  • 42 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DBP2 31
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea Cin.14598 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14598 30
Species where no ortholog for DDX43 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DDX43 Gene

ENSEMBL:
Gene Tree for DDX43 (if available)
TreeFam:
Gene Tree for DDX43 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DDX43: view image

Paralogs for DDX43 Gene

(11) SIMAP similar genes for DDX43 Gene using alignment to 2 proteins:

  • DDX43_HUMAN
  • B4E0C8_HUMAN

Pseudogenes.org Pseudogenes for DDX43 Gene

genes like me logo Genes that share paralogs with DDX43: view

Variants for DDX43 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DDX43 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs311685 - p.Gln629Arg
rs311686 - p.Lys625Glu

Additional dbSNP identifiers (rs#s) for DDX43 Gene

Structural Variations from Database of Genomic Variants (DGV) for DDX43 Gene

Variant ID Type Subtype PubMed ID
esv3609509 CNV loss 21293372
nsv518515 CNV loss 19592680
nsv830693 CNV loss 17160897

Variation tolerance for DDX43 Gene

Residual Variation Intolerance Score: 26.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.46; 91.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DDX43 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDX43

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDX43 Gene

Disorders for DDX43 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DDX43 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search DDX43 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DDX43

genes like me logo Genes that share disorders with DDX43: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DDX43 Gene

Publications for DDX43 Gene

  1. Identification on a human sarcoma of two new genes with tumor-specific expression. (PMID: 10919659) Martelange V … Boon T (Cancer research 2000) 2 3 4 23 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. 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 54
  4. Proteomic profiling of VCP substrates links VCP to K6-linked ubiquitylation and c-Myc function. (PMID: 29467282) Heidelberger JB … Beli P (EMBO reports 2018) 3 54
  5. Arresting of miR-186 and releasing of H19 by DDX43 facilitate tumorigenesis and CML progression. (PMID: 29449695) Lin J … Deng ZQ (Oncogene 2018) 3 54

Products for DDX43 Gene

Sources for DDX43 Gene