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Aliases for DHX40 Gene

Aliases for DHX40 Gene

  • DEAH-Box Helicase 40 2 3 5
  • DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 40 (RNA Helicase) 2 3
  • DEAH (Asp-Glu-Ala-His) Box Polypeptide 40 2 3
  • DEAH Box Protein 40 3 4
  • DDX40 3 4
  • Probable ATP-Dependent RNA Helicase DHX40 3
  • Protein PAD 4
  • EC 4
  • EC 3.6.1 61
  • ARG147 3
  • PAD 3

External Ids for DHX40 Gene

Previous HGNC Symbols for DHX40 Gene

  • DDX40

Previous GeneCards Identifiers for DHX40 Gene

  • GC17P057984
  • GC17P058117
  • GC17P054997
  • GC17P057642
  • GC17P053003

Summaries for DHX40 Gene

Entrez Gene Summary for DHX40 Gene

  • This gene encodes a member of the DExH/D box family of ATP-dependent RNA helicases that have an essential role in RNA metabolism. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Oct 2009]

GeneCards Summary for DHX40 Gene

DHX40 (DEAH-Box Helicase 40) is a Protein Coding gene. Diseases associated with DHX40 include Norum Disease. GO annotations related to this gene include nucleic acid binding and helicase activity. An important paralog of this gene is DHX8.

UniProtKB/Swiss-Prot for DHX40 Gene

  • Probable ATP-dependent RNA helicase.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DHX40 Gene

Genomics for DHX40 Gene

Regulatory Elements for DHX40 Gene

Enhancers for DHX40 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
GH17G059781 2.3 VISTA FANTOM5 Ensembl ENCODE dbSUPER 14.7 +222.2 222150 11.9 CREB3L1 MLX ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 LOC101927755 DHX40 SKA2 RPS6KB1 LOC100996660 MIR21 RNU6-450P PPM1D TRIM37 VMP1
GH17G059564 1.2 ENCODE 22.5 +0.4 415 2.1 CREB3L1 YBX1 DMAP1 SLC30A9 ZNF416 ZNF143 ZNF263 SP3 NFYC MEF2D APPBP2 SKA2 DHX40 LOC100996660 NDUFB8P2 SMG8 TRIM37 GC17P059616
GH17G058658 2.1 FANTOM5 Ensembl ENCODE dbSUPER 10 -906.5 -906515 2.0 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 TRIM37 RAD51C SRSF1 VEZF1 SMG8 DHX40 MTMR4 PPM1E SEPT4 GC17M058661
GH17G058755 1.1 ENCODE 18.9 -809.4 -809407 1.4 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 YBX1 ZNF2 TRIM37 DHX40 ENSG00000264112 SMG8 SRSF1 RAD51C LOC105371843 GC17M058757
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DHX40 on UCSC Golden Path with GeneCards custom track

Promoters for DHX40 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000096382 275 1201 CREB3L1 YBX1 DMAP1 SLC30A9 ZNF416 ZNF143 ZNF263 SP3 NFYC MEF2D

Genomic Location for DHX40 Gene

59,565,525 bp from pter
59,608,352 bp from pter
42,828 bases
Plus strand

Genomic View for DHX40 Gene

Genes around DHX40 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DHX40 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DHX40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DHX40 Gene

Proteins for DHX40 Gene

  • Protein details for DHX40 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Probable ATP-dependent RNA helicase DHX40
    Protein Accession:
    Secondary Accessions:
    • B3KTJ5
    • C9JR60
    • Q5JPH4
    • Q8TC86
    • Q8WY53
    • Q9BXM1
    • Q9H6M9

    Protein attributes for DHX40 Gene

    779 amino acids
    Molecular mass:
    88560 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAF70326.1; Type=Frameshift; Positions=758; Evidence={ECO:0000305}; Sequence=AAK32122.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB15226.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for DHX40 Gene


neXtProt entry for DHX40 Gene

Selected DME Specific Peptides for DHX40 Gene


Post-translational modifications for DHX40 Gene

  • Ubiquitination at Lys387
  • Modification sites at PhosphoSitePlus

Domains & Families for DHX40 Gene

Gene Families for DHX40 Gene

Suggested Antigen Peptide Sequences for DHX40 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the DEAD box helicase family. DEAH subfamily.
  • Belongs to the DEAD box helicase family. DEAH subfamily.
genes like me logo Genes that share domains with DHX40: view

Function for DHX40 Gene

Molecular function for DHX40 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
Probable ATP-dependent RNA helicase.

Enzyme Numbers (IUBMB) for DHX40 Gene

Gene Ontology (GO) - Molecular Function for DHX40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0004004 ATP-dependent RNA helicase activity IBA --
GO:0004386 helicase activity IEA --
GO:0005524 ATP binding IEA --
GO:0008026 ATP-dependent helicase activity IEA --
genes like me logo Genes that share ontologies with DHX40: view
genes like me logo Genes that share phenotypes with DHX40: view

Animal Models for DHX40 Gene

MGI Knock Outs for DHX40:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DHX40 Gene

Localization for DHX40 Gene

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 DHX40 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for DHX40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005681 spliceosomal complex IBA --
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with DHX40: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DHX40 Gene

Pathways & Interactions for DHX40 Gene

SuperPathways for DHX40 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DHX40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome IBA --
GO:0006810 transport IEA --
genes like me logo Genes that share ontologies with DHX40: view

No data available for Pathways by source and SIGNOR curated interactions for DHX40 Gene

Drugs & Compounds for DHX40 Gene

(3) Drugs for DHX40 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 DHX40 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 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 DHX40: view

Transcripts for DHX40 Gene

Unigene Clusters for DHX40 Gene

DEAH (Asp-Glu-Ala-His) box polypeptide 40:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DHX40 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b
SP1: -
SP2: - -
SP3: -
SP5: -

Relevant External Links for DHX40 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DHX40 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DHX40 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DHX40 Gene

This gene is overexpressed in Breast (10.3), Fetal ovary (9.0), Peripheral blood mononuclear cells (7.0), Testis (6.7), and Adipocyte (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DHX40 Gene

Protein tissue co-expression partners for DHX40 Gene

NURSA nuclear receptor signaling pathways regulating expression of DHX40 Gene:


SOURCE GeneReport for Unigene cluster for DHX40 Gene:


mRNA Expression by UniProt/SwissProt for DHX40 Gene:

Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for DHX40 Gene

  • Nervous system(4.6)
  • Lymph node(4.2)
genes like me logo Genes that share expression patterns with DHX40: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DHX40 Gene

Orthologs for DHX40 Gene

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

Orthologs for DHX40 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DHX40 34 35
  • 98.31 (n)
(Canis familiaris)
Mammalia DHX40 34 35
  • 95.55 (n)
(Bos Taurus)
Mammalia DHX40 34 35
  • 94.05 (n)
(Rattus norvegicus)
Mammalia Dhx40 34
  • 91.66 (n)
(Mus musculus)
Mammalia Dhx40 34 16 35
  • 91.57 (n)
(Monodelphis domestica)
Mammalia DHX40 35
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia DHX40 35
  • 76 (a)
(Gallus gallus)
Aves DHX40 34 35
  • 70.63 (n)
(Anolis carolinensis)
Reptilia DHX40 35
  • 67 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dhx40 34
  • 68.23 (n)
Str.14904 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.21302 34
(Danio rerio)
Actinopterygii dhx40 34 35
  • 65.02 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP16 35
  • 24 (a)
Species where no ortholog for DHX40 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DHX40 Gene

Gene Tree for DHX40 (if available)
Gene Tree for DHX40 (if available)

Paralogs for DHX40 Gene

Paralogs for DHX40 Gene Pseudogenes for DHX40 Gene

genes like me logo Genes that share paralogs with DHX40: view

Variants for DHX40 Gene

Sequence variations from dbSNP and Humsavar for DHX40 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000083997 -- 59,568,458(+) GGAGA(A/T)GCCTT intron-variant
rs1000160867 -- 59,596,810(+) TAATC(A/C)AATTA intron-variant
rs1000296399 -- 59,597,162(+) ATCAA(A/G)TACAT intron-variant
rs1000425024 -- 59,573,840(+) ATTAG(C/G/T)CAAGC reference, missense
rs1000602625 -- 59,598,547(+) CTCCA(A/G)AGTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DHX40 Gene

Variant ID Type Subtype PubMed ID
dgv3272n100 CNV gain 25217958
nsv1067453 CNV gain 25217958
nsv575805 CNV gain 21841781
nsv960126 CNV duplication 23825009
nsv960127 CNV duplication 23825009

Variation tolerance for DHX40 Gene

Residual Variation Intolerance Score: 10.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.63; 13.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DHX40 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DHX40 Gene

Disorders for DHX40 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DHX40 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
norum disease
  • fish-eye disease
- elite association - COSMIC cancer census association via MalaCards
Search DHX40 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DHX40

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with DHX40: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DHX40 Gene

Publications for DHX40 Gene

  1. Identification of a novel human DDX40 gene, a new member of the DEAH- box protein family. (PMID: 12522690) Xu J. … Mao Y. (J. Hum. Genet. 2002) 3 4 22 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. Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration-associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways. (PMID: 25192599) Wang T. … Xu J. (Neurobiol. Aging 2015) 3 64
  5. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3 64

Products for DHX40 Gene

Sources for DHX40 Gene

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