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Aliases for DHX40 Gene

Aliases for DHX40 Gene

  • DEAH-Box Helicase 40 2 3
  • DEAH (Asp-Glu-Ala-His) Box Polypeptide 40 2 3 5
  • DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 40 (RNA Helicase) 2 3
  • DEAH Box Protein 40 3 4
  • DDX40 3 4
  • Protein PAD 4
  • EC 4
  • EC 3.6.1 63
  • 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 DHX16.

UniProtKB/Swiss-Prot for DHX40 Gene

  • Probable ATP-dependent RNA helicase.

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around DHX40 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for DHX40 Gene at MOPED

Selected DME Specific Peptides for DHX40 Gene

Post-translational modifications for DHX40 Gene

  • Ubiquitination at Lys 387
  • 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



  • Contains 1 helicase ATP-binding domain.
  • Belongs to the DEAD box helicase family. DEAH subfamily.
  • Contains 1 helicase ATP-binding domain.
  • Contains 1 helicase C-terminal domain.
  • 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:0004004 ATP-dependent RNA helicase activity IBA --
GO:0005524 ATP binding IEA --
GO:0008026 ATP-dependent helicase activity IEA --
GO:0044822 poly(A) RNA binding IBA --
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

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

Localization for DHX40 Gene

Subcellular locations from

Jensen Localization Image for DHX40 Gene COMPARTMENTS Subcellular localization image for DHX40 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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:0008152 metabolic process 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

(1) Drugs for DHX40 Gene - From: HMDB

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

(3) 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
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
  • Dihydrogen oxide
  • Steam
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:

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 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, MOPED, and MaxQB for DHX40 Gene

SOURCE GeneReport for Unigene cluster for DHX40 Gene Hs.29403

mRNA Expression by UniProt/SwissProt for DHX40 Gene

Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with DHX40: view

Protein tissue co-expression partners for DHX40 Gene

Primer Products

No data available for mRNA differential expression in normal tissues 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
(Bos Taurus)
Mammalia DHX40 35
  • 94.05 (n)
  • 98.59 (a)
DHX40 36
  • 99 (a)
(Canis familiaris)
Mammalia DHX40 35
  • 95.55 (n)
  • 98.72 (a)
DHX40 36
  • 98 (a)
(Mus musculus)
Mammalia Dhx40 35
  • 91.57 (n)
  • 97.56 (a)
Dhx40 16
Dhx40 36
  • 98 (a)
(Pan troglodytes)
Mammalia DHX40 35
  • 98.31 (n)
  • 97.87 (a)
DHX40 36
  • 98 (a)
(Rattus norvegicus)
Mammalia Dhx40 35
  • 91.66 (n)
  • 97.56 (a)
(Monodelphis domestica)
Mammalia DHX40 36
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia DHX40 36
  • 76 (a)
(Gallus gallus)
Aves DHX40 35
  • 70.63 (n)
  • 71.68 (a)
DHX40 36
  • 70 (a)
(Anolis carolinensis)
Reptilia DHX40 36
  • 67 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dhx40 35
  • 68.23 (n)
  • 67.36 (a)
Str.14904 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.21302 35
(Danio rerio)
Actinopterygii dhx40 35
  • 65.02 (n)
  • 66.53 (a)
dhx40 36
  • 66 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP16 36
  • 24 (a)
Species with no ortholog for DHX40:
  • 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
rs1140061 -- 59,608,346(+) Caaaa(A/G/T)acaaa utr-variant-3-prime
rs2523371 -- 59,573,785(+) AGTCT(C/G)CTAAT reference, missense
rs2523372 -- 59,574,467(+) CATAT(A/G)TTTAT intron-variant
rs2523378 -- 59,576,697(+) TTCAC(C/T)GATGC intron-variant
rs2523380 -- 59,577,947(+) ATCCA(A/G)TGTTT intron-variant

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for DHX40 Gene

Disorders for DHX40 Gene

MalaCards: The human disease database

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

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 23 67
  2. 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
  3. 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
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for DHX40 Gene

Sources for DHX40 Gene