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Aliases for DHX8 Gene

Aliases for DHX8 Gene

  • DEAH-Box Helicase 8 2 3 5
  • DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 8 (RNA Helicase) 2 3
  • DEAH (Asp-Glu-Ala-His) Box Polypeptide 8 2 3
  • DEAH Box Protein 8 3 4
  • RNA Helicase HRH1 3 4
  • DDX8 3 4
  • ATP-Dependent RNA Helicase DHX8 3
  • EC 3.6.4.13 4
  • PRPF22 3
  • PRP22 3
  • Dhr2 3
  • HRH1 3

External Ids for DHX8 Gene

Previous HGNC Symbols for DHX8 Gene

  • DDX8

Previous GeneCards Identifiers for DHX8 Gene

  • GC17P041572
  • GC17P042036
  • GC17P038916
  • GC17P037326
  • GC17P041569

Summaries for DHX8 Gene

Entrez Gene Summary for DHX8 Gene

  • This gene is a member of the DEAH box polypeptide family. The encoded protein contains the DEAH (Asp-Glu-Ala-His) motif which is characteristic of all DEAH box proteins, and is thought to function as an ATP-dependent RNA helicase that regulates the release of spliced mRNAs from spliceosomes prior to their export from the nucleus. This protein may be required for the replication of human immunodeficiency virus type 1 (HIV-1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

GeneCards Summary for DHX8 Gene

DHX8 (DEAH-Box Helicase 8) is a Protein Coding gene. Diseases associated with DHX8 include Human Immunodeficiency Virus Type 1. Among its related pathways are mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and identical protein binding. An important paralog of this gene is DHX38.

UniProtKB/Swiss-Prot for DHX8 Gene

  • Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346). Facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome (PubMed:8608946).

Additional gene information for DHX8 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DHX8 Gene

Genomics for DHX8 Gene

GeneHancer (GH) Regulatory Elements for DHX8 Gene

Promoters and enhancers for DHX8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J043481 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 667.2 -0.2 -172 3.5 MLX ZFP64 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC DHX8 TMUB2 ETV4 HMGN1P29 NBR2 RETREG3 ENSG00000267340 ASB16-AS1 LINC00910 UBTF
GH17J043322 Enhancer 1.5 Ensembl ENCODE dbSUPER 202.3 -160.7 -160702 1.6 CLOCK MLX ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF213 ZNF416 ZNF143 UBTF ASB16-AS1 ENSG00000267340 DHX8 ENSG00000267002 HMGN1P29 TMUB2 NBR2 LINC00910 PLEKHH3
GH17J043366 Enhancer 1.5 Ensembl ENCODE dbSUPER 91.9 -115.2 -115151 4 ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC LOC105371785 DHX8 NBR2 HMGN1P29 ASB16-AS1 LINC00910 TMUB2 UBTF PSME3 ENSG00000267340
GH17J043124 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 59.9 -358.3 -358284 2.8 MLX DMAP1 YY1 E2F8 ZNF143 SP3 NFYC ZC3H11A ZNF610 GLIS1 NBR2 PIR61659 PIR48082 BRCA1 NBR1 DHX8 HMGN1P29 ENSG00000267758 LINC00910 RETREG3
GH17J043543 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 52.4 +62.1 62134 4.8 MLX ZFP64 FEZF1 DMAP1 YY1 E2F8 MCM3 SP3 NFYC PPARGC1A ETV4 ENSG00000267747 DHX8 ASB16-AS1 HMGN1P29 LINC00910 UBTF ENSG00000267604 TMUB2 RPL27
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DHX8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DHX8 gene promoter:
  • Ik-1
  • Tal-1beta
  • E47
  • LCR-F1
  • AREB6
  • ITF-2
  • AML1a
  • STAT1
  • STAT1alpha

Genomic Locations for DHX8 Gene

Genomic Locations for DHX8 Gene
chr17:43,483,865-43,544,463
(GRCh38/hg38)
Size:
60,599 bases
Orientation:
Plus strand
chr17:41,561,233-41,621,831
(GRCh37/hg19)
Size:
60,599 bases
Orientation:
Plus strand

Genomic View for DHX8 Gene

Genes around DHX8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DHX8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DHX8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DHX8 Gene

Proteins for DHX8 Gene

  • Protein details for DHX8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14562-DHX8_HUMAN
    Recommended name:
    ATP-dependent RNA helicase DHX8
    Protein Accession:
    Q14562

    Protein attributes for DHX8 Gene

    Size:
    1220 amino acids
    Molecular mass:
    139315 Da
    Quaternary structure:
    • Identified in the spliceosome C complex (PubMed:11991638, PubMed:28502770, PubMed:28076346). Interacts with ARRB2; the interaction is detected in the nucleus upon OR1D2 stimulation (PubMed:16820410).

    Three dimensional structures from OCA and Proteopedia for DHX8 Gene

neXtProt entry for DHX8 Gene

Post-translational modifications for DHX8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DHX8 Gene

Domains & Families for DHX8 Gene

Gene Families for DHX8 Gene

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

Graphical View of Domain Structure for InterPro Entry

Q14562

UniProtKB/Swiss-Prot:

DHX8_HUMAN :
  • The RS domain confers a nuclear localization signal, and appears to facilitate the interaction with the spliceosome.
  • Belongs to the DEAD box helicase family. DEAH subfamily. DDX8/PRP22 sub-subfamily.
Domain:
  • The RS domain confers a nuclear localization signal, and appears to facilitate the interaction with the spliceosome.
Family:
  • Belongs to the DEAD box helicase family. DEAH subfamily. DDX8/PRP22 sub-subfamily.
genes like me logo Genes that share domains with DHX8: view

Function for DHX8 Gene

Molecular function for DHX8 Gene

UniProtKB/Swiss-Prot Function:
Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346). Facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome (PubMed:8608946).
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.

Enzyme Numbers (IUBMB) for DHX8 Gene

Phenotypes From GWAS Catalog for DHX8 Gene

Gene Ontology (GO) - Molecular Function for DHX8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IBA --
GO:0004004 ATP-dependent RNA helicase activity TAS 7935475
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 16820410
genes like me logo Genes that share ontologies with DHX8: view
genes like me logo Genes that share phenotypes with DHX8: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHX8

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DHX8 Gene

Localization for DHX8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DHX8 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 DHX8 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DHX8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,TAS 28076346
GO:0005654 nucleoplasm IDA --
GO:0005681 spliceosomal complex TAS 7935475
GO:0005737 cytoplasm IBA --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with DHX8: view

Pathways & Interactions for DHX8 Gene

SuperPathway Contained pathways
1 mRNA Splicing - Major Pathway
genes like me logo Genes that share pathways with DHX8: view

Pathways by source for DHX8 Gene

1 BioSystems pathway for DHX8 Gene
1 KEGG pathway for DHX8 Gene

Gene Ontology (GO) - Biological Process for DHX8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome IBA,IDA 28076346
GO:0006396 RNA processing TAS 7935475
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing TAS 7935475
genes like me logo Genes that share ontologies with DHX8: view

No data available for SIGNOR curated interactions for DHX8 Gene

Drugs & Compounds for DHX8 Gene

(4) Drugs for DHX8 Gene - From: HMDB and Novoseek

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, Potentiation, Pore Blocker 0

(1) Additional Compounds for DHX8 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 DHX8: view

Transcripts for DHX8 Gene

Unigene Clusters for DHX8 Gene

DEAH (Asp-Glu-Ala-His) box polypeptide 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHX8

Alternative Splicing Database (ASD) splice patterns (SP) for DHX8 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20a ·
SP1: - -
SP2: -
SP3:
SP4:
SP5:

ExUns: 20b ^ 21 ^ 22 ^ 23 ^ 24
SP1:
SP2:
SP3: -
SP4:
SP5:

Relevant External Links for DHX8 Gene

GeneLoc Exon Structure for
DHX8
ECgene alternative splicing isoforms for
DHX8

Expression for DHX8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DHX8 Gene

Protein differential expression in normal tissues from HIPED for DHX8 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.6) and CD8 Tcells (15.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DHX8 Gene



Protein tissue co-expression partners for DHX8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DHX8 Gene:

DHX8

SOURCE GeneReport for Unigene cluster for DHX8 Gene:

Hs.463105

Evidence on tissue expression from TISSUES for DHX8 Gene

  • Liver(4.3)
  • Nervous system(3.3)
genes like me logo Genes that share expression patterns with DHX8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DHX8 Gene

Orthologs for DHX8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DHX8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DHX8 34 33
  • 99.89 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DHX8 34
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DHX8 34 33
  • 91.96 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DHX8 34 33
  • 91.51 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dhx8 33
  • 91.07 (n)
mouse
(Mus musculus)
Mammalia Dhx8 16 34 33
  • 89.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 40 (a)
ManyToMany
chicken
(Gallus gallus)
Aves DHX8 34 33
  • 80.59 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DHX8 34
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC733563 33
  • 76.79 (n)
Str.6061 33
zebrafish
(Danio rerio)
Actinopterygii dhx8 34 33
  • 78.21 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4139 33
fruit fly
(Drosophila melanogaster)
Insecta pea 34
  • 70 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007212 33
  • 65.87 (n)
worm
(Caenorhabditis elegans)
Secernentea mog-5 34 33
  • 62.35 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR020W 33
  • 56.41 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B11638g 33
  • 55.65 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP22 36 33
  • 55.17 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G26560 33
  • 59.47 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.8910 33
rice
(Oryza sativa)
Liliopsida Os06g0343100 33
  • 60.6 (n)
Os.6639 33
corn
(Zea mays)
Liliopsida Zm.3754 33
wheat
(Triticum aestivum)
Liliopsida Ta.26697 33
barley
(Hordeum vulgare)
Liliopsida Hv.5274 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 70 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU06318 33
  • 58.84 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes prp22 33
  • 56.84 (n)
Species where no ortholog for DHX8 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for DHX8 Gene

ENSEMBL:
Gene Tree for DHX8 (if available)
TreeFam:
Gene Tree for DHX8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DHX8: view image

Paralogs for DHX8 Gene

Paralogs for DHX8 Gene

(9) SIMAP similar genes for DHX8 Gene using alignment to 9 proteins:

  • DHX8_HUMAN
  • F5H658_HUMAN
  • K7EJH9_HUMAN
  • K7END7_HUMAN
  • K7EQH7_HUMAN
  • Q05CV4_HUMAN
  • Q86X36_HUMAN
  • Q86YB2_HUMAN
  • S4R3S0_HUMAN
genes like me logo Genes that share paralogs with DHX8: view

Variants for DHX8 Gene

Sequence variations from dbSNP and Humsavar for DHX8 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000053527 -- 43,493,996(+) G/A intron_variant
rs1000107458 -- 43,523,129(+) T/C intron_variant
rs1000113620 -- 43,522,615(+) G/A intron_variant
rs1000120669 -- 43,542,923(+) C/A genic_downstream_transcript_variant, intron_variant
rs1000169011 -- 43,540,181(+) G/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DHX8 Gene

Variant ID Type Subtype PubMed ID
esv2761959 CNV gain 21179565
esv3640625 CNV gain 21293372
esv3640630 CNV gain 21293372
nsv1060861 CNV gain 25217958
nsv1065802 CNV gain 25217958
nsv1146669 OTHER inversion 26484159
nsv470588 CNV gain 18288195
nsv833451 CNV loss 17160897
nsv833453 CNV gain+loss 17160897

Variation tolerance for DHX8 Gene

Residual Variation Intolerance Score: 2.92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.40; 27.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DHX8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DHX8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DHX8 Gene

Disorders for DHX8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DHX8 Gene - From: GeneCards

Disorder Aliases PubMed IDs
human immunodeficiency virus type 1
  • human immunodeficiency virus type 1, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search DHX8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DHX8

genes like me logo Genes that share disorders with DHX8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DHX8 Gene

Publications for DHX8 Gene

  1. Identification of a putative RNA helicase (HRH1), a human homolog of yeast Prp22. (PMID: 7935475) Ono Y … Shimura Y (Molecular and cellular biology 1994) 2 3 4 22 58
  2. A human RNA helicase-like protein, HRH1, facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome. (PMID: 8608946) Ohno M … Shimura Y (Genes & development 1996) 3 4 22 58
  3. Cryo-EM structure of a human spliceosome activated for step 2 of splicing. (PMID: 28076346) Bertram K … Lührmann R (Nature 2017) 3 4 58
  4. Structural analysis of the C-terminal domain of the spliceosomal helicase Prp22. (PMID: 23096351) Kudlinzki D … Ficner R (Biological chemistry 2012) 3 4 58
  5. Novel function of beta-arrestin2 in the nucleus of mature spermatozoa. (PMID: 16820410) Neuhaus EM … Hatt H (Journal of cell science 2006) 3 4 58

Products for DHX8 Gene

Sources for DHX8 Gene

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