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] See more...

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
  • Probable ATP-Dependent RNA Helicase DHX40 3 4
  • DEAH Box Protein 40 3 4
  • ARG147 2 3
  • DDX40 3 4
  • PAD 2 3
  • Protein PAD 4
  • EC 3.6.4.13 4
  • FLJ22060 2
  • EC 3.6.1 51
  • DHX40 5

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 Lecithin:Cholesterol Acyltransferase Deficiency and Congenital Fiber-Type Disproportion. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and helicase activity. An important paralog of this gene is DHX8.

UniProtKB/Swiss-Prot Summary for DHX40 Gene

Additional gene information for DHX40 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DHX40 Gene

Genomics for DHX40 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DHX40 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 DHX40 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DHX40

Top Transcription factor binding sites by QIAGEN in the DHX40 gene promoter:
  • aMEF-2
  • C/EBPalpha
  • FOXF2
  • MEF-2A
  • NRSF form 1
  • NRSF form 2
  • POU2F1
  • POU2F1a

Genomic Locations for DHX40 Gene

Genomic Locations for DHX40 Gene
chr17:59,565,558-59,608,345
(GRCh38/hg38)
Size:
42,788 bases
Orientation:
Plus strand
chr17:57,642,886-57,685,713
(GRCh37/hg19)
Size:
42,828 bases
Orientation:
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:
    Q8IX18-DHX40_HUMAN
    Recommended name:
    Probable ATP-dependent RNA helicase DHX40
    Protein Accession:
    Q8IX18
    Secondary Accessions:
    • B3KTJ5
    • C9JR60
    • Q5JPH4
    • Q8TC86
    • Q8WY53
    • Q9BXM1
    • Q9H6M9

    Protein attributes for DHX40 Gene

    Size:
    779 amino acids
    Molecular mass:
    88560 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF70326.1; Type=Frameshift; 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

    UniProtKB/Swiss-Prot:

neXtProt entry for DHX40 Gene

Selected DME Specific Peptides for DHX40 Gene

Q8IX18:
  • LDEAHERT
  • RKCVISTNI
  • TDILFGL
  • QRSGRAGRT
  • TSLTIDGIRYV
  • DEAHERTL
  • IKYMTDG
  • TGSGKTTQ

Post-translational modifications for DHX40 Gene

  • Ubiquitination at Lys387
  • Modification sites at PhosphoSitePlus

Domains & Families for DHX40 Gene

Gene Families for DHX40 Gene

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

Protein Domains for DHX40 Gene

InterPro:
Blocks:
  • ATP-dependent helicase, DEAH-box
  • Helicase-associated region
ProtoNet:

Suggested Antigen Peptide Sequences for DHX40 Gene

GenScript: Design optimal peptide antigens:
  • Protein PAD (DHX40_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IX18

UniProtKB/Swiss-Prot:

DHX40_HUMAN :
  • Belongs to the DEAD box helicase family. DEAH subfamily.
Family:
  • 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 Function:
Probable ATP-dependent RNA helicase.
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 DHX40 Gene

Phenotypes From GWAS Catalog for DHX40 Gene

Gene Ontology (GO) - Molecular Function for DHX40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IBA 21873635
GO:0003724 RNA helicase activity IEA --
GO:0004386 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:
  • Dhx40 Dhx40<tm1b(KOMP)Wtsi>
  • Dhx40 Dhx40<tm1(NCOM)Cmhd>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHX40

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

Localization for DHX40 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 DHX40 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DHX40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA 21873635
GO:0005681 spliceosomal complex 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

PathCards logo

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 --
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
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for DHX40 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
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with DHX40: view

Transcripts for DHX40 Gene

mRNA/cDNA for DHX40 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
10 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 DHX40

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: -
SP4:
SP5: -
SP6:

Relevant External Links for DHX40 Gene

GeneLoc Exon Structure for
DHX40

Expression for DHX40 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for DHX40 Gene



Protein tissue co-expression partners for DHX40 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DHX40

SOURCE GeneReport for Unigene cluster for DHX40 Gene:

Hs.29403

mRNA Expression by UniProt/SwissProt for DHX40 Gene:

Q8IX18-DHX40_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for DHX40 Gene

  • Nervous system(4.7)
  • Lymph node(4.2)
  • Kidney(2.4)
genes like me logo Genes that share expression patterns with DHX40: view

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
Chimpanzee
(Pan troglodytes)
Mammalia DHX40 30 31
  • 98.31 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DHX40 30 31
  • 95.55 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DHX40 30 31
  • 94.05 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dhx40 30
  • 91.66 (n)
Mouse
(Mus musculus)
Mammalia Dhx40 30 17 31
  • 91.57 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DHX40 31
  • 76 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DHX40 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DHX40 30 31
  • 70.63 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DHX40 31
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dhx40 30
  • 68.23 (n)
Str.14904 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.21302 30
Zebrafish
(Danio rerio)
Actinopterygii dhx40 30 31
  • 65.02 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP16 31
  • 24 (a)
OneToMany
Species where no ortholog for DHX40 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for DHX40 (if available)
TreeFam:
Gene Tree for DHX40 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DHX40: view image

Paralogs for DHX40 Gene

(10) SIMAP similar genes for DHX40 Gene using alignment to 8 proteins:

  • DHX40_HUMAN
  • C9JEW8_HUMAN
  • F5H625_HUMAN
  • J3KS08_HUMAN
  • J3KSW6_HUMAN
  • J3KSX9_HUMAN
  • J3KTK0_HUMAN
  • L8EAD7_HUMAN

Pseudogenes.org Pseudogenes for DHX40 Gene

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

Variants for DHX40 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DHX40 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
786951 Benign: not provided 59,573,835(+) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for DHX40 Gene

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)

Additional Variant Information for DHX40 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DHX40

SNP Genotyping and Copy Number Assay Products

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

Disorders for DHX40 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search DHX40 in MalaCards View complete list of genes associated with diseases
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 DDX40gene, a new member of the DEAH-box protein family. (PMID: 12522690) Xu J … Mao Y (Journal of human genetics 2002) 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Proteomic Analysis Reveals a Role for RSK in p120-catenin Phosphorylation and Melanoma Cell-Cell Adhesion. (PMID: 31678930) Méant A … Roux PP (Molecular & cellular proteomics : MCP 2020) 3

Products for DHX40 Gene

Sources for DHX40 Gene