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Aliases for DDX3X Gene

Aliases for DDX3X Gene

  • DEAD-Box Helicase 3, X-Linked 2 3
  • DEAD (Asp-Glu-Ala-Asp) Box Helicase 3, X-Linked 2 3 5
  • DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 3, X-Linked 2 3
  • DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 3 2 3
  • DEAD Box Protein 3, X-Chromosomal 3 4
  • Helicase-Like Protein 2 3 4
  • DEAD Box, X Isoform 3 4
  • DDX3 3 4
  • HLP2 3 4
  • DBX 3 4
  • DEAD/H Box-3 3
  • EC 3.6.4.13 4
  • EC 3.6.1 63
  • CAP-Rf 3
  • MRX102 3
  • DDX14 3

External Ids for DDX3X Gene

Previous HGNC Symbols for DDX3X Gene

  • DDX3

Previous GeneCards Identifiers for DDX3X Gene

  • GC0XP040037
  • GC0XP040223
  • GC0XP040948
  • GC0XP041077
  • GC0XP041192
  • GC0XP038924

Summaries for DDX3X Gene

Entrez Gene Summary for DDX3X Gene

  • The protein encoded by this gene is a member of the large DEAD-box protein family, that is defined by the presence of the conserved Asp-Glu-Ala-Asp (DEAD) motif, and has ATP-dependent RNA helicase activity. This protein has been reported to display a high level of RNA-independent ATPase activity, and unlike most DEAD-box helicases, the ATPase activity is thought to be stimulated by both RNA and DNA. This protein has multiple conserved domains and is thought to play roles in both the nucleus and cytoplasm. Nuclear roles include transcriptional regulation, mRNP assembly, pre-mRNA splicing, and mRNA export. In the cytoplasm, this protein is thought to be involved in translation, cellular signaling, and viral replication. Misregulation of this gene has been implicated in tumorigenesis. This gene has a paralog located in the nonrecombining region of the Y chromosome. Pseudogenes sharing similarity to both this gene and the DDX3Y paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

GeneCards Summary for DDX3X Gene

DDX3X (DEAD-Box Helicase 3, X-Linked) is a Protein Coding gene. Diseases associated with DDX3X include Mental Retardation, X-Linked 102 and Precursor T-Cell Acute Lymphoblastic Leukemia. Among its related pathways are RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways and TNF-alpha/NF-kB Signaling Pathway. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is DDX4.

UniProtKB/Swiss-Prot for DDX3X Gene

  • Multifunctional ATP-dependent RNA helicase. The ATPase activity can be stimulated by various ribo- and deoxynucleic acids indicative for a relaxed substrate specificity. In vitro can unwind partially double-stranded DNA with a preference for 5-single-stranded DNA overhangs. Is involved in several steps of gene expression, such as transcription, mRNA maturation, mRNA export and translation. However, the exact mechanisms are not known and some functions may be specific for a subset of mRNAs. Involved in transcriptional regulation. Can enhance transcription from the CDKN1A/WAF1 promoter in a SP1-dependent manner. Found associated with the E-cadherin promoter and can down-regulate transcription from the promoter. Involved in regulation of translation initiation. Proposed to be involved in positive regulation of translation such as of cyclin E1/CCNE1 mRNA and specifically of mRNAs containing complex secondary structures in their 5UTRs; these functions seem to require RNA helicase activity. Specifically promotes translation of a subset of viral and cellular mRNAs carrying a 5proximal stem-loop structure in their 5UTRs and cooperates with the eIF4F complex. Proposed to act prior to 43S ribosomal scanning and to locally destabilize these RNA structures to allow recognition of the mRNA cap or loading onto the 40S subunit. After association with 40S ribosomal subunits seems to be involved in the functional assembly of 80S ribosomes; the function seems to cover translation of mRNAs with structured and non-structured 5UTRs and is independent of RNA helicase activity. Also proposed to inhibit cap-dependent translation by competetive interaction with EIF4E which can block the EIF4E:EIF4G complex formation. Proposed to be involved in stress response and stress granule assembly; the function is independent of RNA helicase activity and seems to involve association with EIF4E. May be involved in nuclear export of specific mRNAs but not in bulk mRNA export via interactions with XPO1 and NXF1. Also associates with polyadenylated mRNAs independently of NXF1. Associates with spliced mRNAs in an exon junction complex (EJC)-dependent manner and seems not to be directly involved in splicing. May be involved in nuclear mRNA export by association with DDX5 and regulating its nuclear location. Involved in innate immune signaling promoting the production of type I interferon (IFN-alpha and IFN-beta); proposed to act as viral RNA sensor, signaling intermediate and transcriptional coactivator. Involved in TBK1 and IKBKE-dependent IRF3 activation leading to IFNB induction, plays a role of scaffolding adapter that links IKBKE and IRF3 and coordinates their activation. Also found associated with IFNB promoters; the function is independent of IRF3. Can bind to viral RNAs and via association with MAVS/IPS1 and DDX58/RIG-I is thought to induce signaling in early stages of infection. Involved in regulation of apoptosis. May be required for activation of the intrinsic but inhibit activation of the extrinsic apoptotic pathway. Acts as an antiapoptotic protein through association with GSK3A/B and BIRC2 in an apoptosis antagonizing signaling complex; activation of death receptors promotes caspase-dependent cleavage of BIRC2 and DDX3X and relieves the inhibition. May be involved in mitotic chromosome segregation. Appears to be a prime target for viral manipulations. Hepatitis B virus (HBV) polymerase and possibly vaccinia virus (VACV) protein K7 inhibit IFNB induction probably by dissociating DDX3X from TBK1 or IKBKE. Is involved in hepatitis C virus (HCV) replication; the function may involve the association with HCV core protein. HCV core protein inhibits the IPS1-dependent function in viral RNA sensing and may switch the function from a INFB inducing to a HCV replication mode. Involved in HIV-1 replication. Acts as a cofactor for XPO1-mediated nuclear export of incompletely spliced HIV-1 Rev RNAs.

Gene Wiki entry for DDX3X Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DDX3X Gene

Genomics for DDX3X Gene

Regulatory Elements for DDX3X Gene

Enhancers for DDX3X 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 DDX3X on UCSC Golden Path with GeneCards custom track

Promoters for DDX3X Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DDX3X on UCSC Golden Path with GeneCards custom track

Genomic Location for DDX3X Gene

Chromosome:
X
Start:
41,333,308 bp from pter
End:
41,364,472 bp from pter
Size:
31,165 bases
Orientation:
Plus strand

Genomic View for DDX3X Gene

Genes around DDX3X on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDX3X Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDX3X Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDX3X Gene

Proteins for DDX3X Gene

  • Protein details for DDX3X Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00571-DDX3X_HUMAN
    Recommended name:
    ATP-dependent RNA helicase DDX3X
    Protein Accession:
    O00571
    Secondary Accessions:
    • A8K538
    • B4E3E8
    • O15536

    Protein attributes for DDX3X Gene

    Size:
    662 amino acids
    Molecular mass:
    73243 Da
    Quaternary structure:
    • Interacts with XPO1, TDRD3, PABPC1, NXF1, EIF3C, MAVS, DDX58 and NCAPH. Interacts with DDX5; the interaction is regulated by the phosphorylation status of both proteins. Interacts with EIF4E; DDX3X competes with EIF4G1/EIF4G3 for interaction with EIF4E. Interacts with IKBKE; the interaction is direct, found to be induced upon virus infection. Interacts (when phosphorylated at Ser-102) with IRF3; the interaction allows the phosphorylation and activation of IRF3 by IKBKE. Interacts with TBK1. Associates with the eukaryotic translation initiation factor 3 (eIF-3) complex. Associates with the 40S ribosome. Identified in a mRNP complex, at least composed of DHX9, DDX3X, ELAVL1, HNRNPU, IGF2BP1, ILF3, PABPC1, PCBP2, PTBP2, STAU1, STAU2, SYNCRIP and YBX1. Interacts with HCV core protein. Interacts with vaccinia virus (VACV) protein K7. Found in a complex with HIV-1 Rev and XPO1. Interacts (when phosphorylated at Ser-102) with IRF3; the interaction allows the phosphorylation and activation of IRF3 by IKBKE.

    Three dimensional structures from OCA and Proteopedia for DDX3X Gene

    Alternative splice isoforms for DDX3X Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDX3X Gene

Proteomics data for DDX3X Gene at MOPED

Post-translational modifications for DDX3X Gene

  • Phosphorylated by TBK1; the phosphorylation is required to synergize with TBK1 in IFNB induction. Phosphorylated by IKBKE at Ser-102 after ssRNA viral infection; enhances the induction of INFB promoter by IRF3. The cytoplasmic form is highly phosphorylated in the G1/S phase and much lower phosphorylated in G2/M.
  • Ubiquitination at Lys 55 and Lys 554
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DDX3X (DDX3)
  • Abcam antibodies for DDX3

Domains & Families for DDX3X Gene

Gene Families for DDX3X Gene

Graphical View of Domain Structure for InterPro Entry

O00571

UniProtKB/Swiss-Prot:

DDX3X_HUMAN :
  • Contains 1 helicase ATP-binding domain.
  • Belongs to the DEAD box helicase family. DDX3/DED1 subfamily.
Domain:
  • Contains 1 helicase ATP-binding domain.
  • Contains 1 helicase C-terminal domain.
Family:
  • Belongs to the DEAD box helicase family. DDX3/DED1 subfamily.
genes like me logo Genes that share domains with DDX3X: view

Function for DDX3X Gene

Molecular function for DDX3X Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
Multifunctional ATP-dependent RNA helicase. The ATPase activity can be stimulated by various ribo- and deoxynucleic acids indicative for a relaxed substrate specificity. In vitro can unwind partially double-stranded DNA with a preference for 5-single-stranded DNA overhangs. Is involved in several steps of gene expression, such as transcription, mRNA maturation, mRNA export and translation. However, the exact mechanisms are not known and some functions may be specific for a subset of mRNAs. Involved in transcriptional regulation. Can enhance transcription from the CDKN1A/WAF1 promoter in a SP1-dependent manner. Found associated with the E-cadherin promoter and can down-regulate transcription from the promoter. Involved in regulation of translation initiation. Proposed to be involved in positive regulation of translation such as of cyclin E1/CCNE1 mRNA and specifically of mRNAs containing complex secondary structures in their 5UTRs; these functions seem to require RNA helicase activity. Specifically promotes translation of a subset of viral and cellular mRNAs carrying a 5proximal stem-loop structure in their 5UTRs and cooperates with the eIF4F complex. Proposed to act prior to 43S ribosomal scanning and to locally destabilize these RNA structures to allow recognition of the mRNA cap or loading onto the 40S subunit. After association with 40S ribosomal subunits seems to be involved in the functional assembly of 80S ribosomes; the function seems to cover translation of mRNAs with structured and non-structured 5UTRs and is independent of RNA helicase activity. Also proposed to inhibit cap-dependent translation by competetive interaction with EIF4E which can block the EIF4E:EIF4G complex formation. Proposed to be involved in stress response and stress granule assembly; the function is independent of RNA helicase activity and seems to involve association with EIF4E. May be involved in nuclear export of specific mRNAs but not in bulk mRNA export via interactions with XPO1 and NXF1. Also associates with polyadenylated mRNAs independently of NXF1. Associates with spliced mRNAs in an exon junction complex (EJC)-dependent manner and seems not to be directly involved in splicing. May be involved in nuclear mRNA export by association with DDX5 and regulating its nuclear location. Involved in innate immune signaling promoting the production of type I interferon (IFN-alpha and IFN-beta); proposed to act as viral RNA sensor, signaling intermediate and transcriptional coactivator. Involved in TBK1 and IKBKE-dependent IRF3 activation leading to IFNB induction, plays a role of scaffolding adapter that links IKBKE and IRF3 and coordinates their activation. Also found associated with IFNB promoters; the function is independent of IRF3. Can bind to viral RNAs and via association with MAVS/IPS1 and DDX58/RIG-I is thought to induce signaling in early stages of infection. Involved in regulation of apoptosis. May be required for activation of the intrinsic but inhibit activation of the extrinsic apoptotic pathway. Acts as an antiapoptotic protein through association with GSK3A/B and BIRC2 in an apoptosis antagonizing signaling complex; activation of death receptors promotes caspase-dependent cleavage of BIRC2 and DDX3X and relieves the inhibition. May be involved in mitotic chromosome segregation. Appears to be a prime target for viral manipulations. Hepatitis B virus (HBV) polymerase and possibly vaccinia virus (VACV) protein K7 inhibit IFNB induction probably by dissociating DDX3X from TBK1 or IKBKE. Is involved in hepatitis C virus (HCV) replication; the function may involve the association with HCV core protein. HCV core protein inhibits the IPS1-dependent function in viral RNA sensing and may switch the function from a INFB inducing to a HCV replication mode. Involved in HIV-1 replication. Acts as a cofactor for XPO1-mediated nuclear export of incompletely spliced HIV-1 Rev RNAs.
UniProtKB/Swiss-Prot Induction:
Regulated by the cell cycle. Maximally expressed din the cytoplasm uring G1/S phase and decreased expression during G2/M phase.

Enzyme Numbers (IUBMB) for DDX3X Gene

Gene Ontology (GO) - Molecular Function for DDX3X Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004003 ATP-dependent DNA helicase activity IDA 21589879
GO:0005515 protein binding IPI 10074132
GO:0008143 poly(A) binding IDA 18596238
GO:0031369 translation initiation factor binding IDA 22323517
GO:0043024 ribosomal small subunit binding IDA 22323517
genes like me logo Genes that share ontologies with DDX3X: view
genes like me logo Genes that share phenotypes with DDX3X: view

Human Phenotype Ontology for DDX3X Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for DDX3X Gene

miRTarBase miRNAs that target DDX3X

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for DDX3X Gene

Localization for DDX3X Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDX3X Gene

Nucleus speckle. Cytoplasm. Mitochondrion outer membrane. Note=Located predominantly in nuclear speckles and, at low levels, throughout the cytoplasm. Located to the outer side of nuclear pore complexes (NPC). Shuttles between the nucleus and the cytoplasm in a XPO1 and may be also in a NFX1-dependent manner. Associated with polyadenylated mRNAs in the cytoplasm and the nucleus. Predominantly located in nucleus during G(0) phase and in the cytoplasm during G1/S phase.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DDX3X Gene COMPARTMENTS Subcellular localization image for DDX3X gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
cytosol 3

No data available for Gene Ontology (GO) - Cellular Components for DDX3X Gene

Pathways & Interactions for DDX3X Gene

genes like me logo Genes that share pathways with DDX3X: view

Pathways by source for DDX3X Gene

1 GeneTex pathway for DDX3X Gene
2 Cell Signaling Technology pathways for DDX3X Gene
1 BioSystems pathway for DDX3X Gene

SIGNOR curated interactions for DDX3X Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for DDX3X Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006413 translational initiation IBA --
GO:0007059 chromosome segregation IMP 21730191
GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors IMP 18846110
GO:0010501 RNA secondary structure unwinding IDA 22872150
genes like me logo Genes that share ontologies with DDX3X: view

Drugs & Compounds for DDX3X Gene

(1) Drugs for DDX3X Gene - From: HMDB

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

(3) Additional Compounds for DDX3X Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 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]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with DDX3X: view

Transcripts for DDX3X Gene

Unigene Clusters for DDX3X Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DDX3X Gene

No ASD Table

Relevant External Links for DDX3X Gene

GeneLoc Exon Structure for
DDX3X
ECgene alternative splicing isoforms for
DDX3X

Expression for DDX3X Gene

mRNA expression in normal human tissues for DDX3X Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DDX3X Gene

This gene is overexpressed in Bone marrow stromal cell (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DDX3X Gene



SOURCE GeneReport for Unigene cluster for DDX3X Gene Hs.743263

genes like me logo Genes that share expression patterns with DDX3X: view

Protein tissue co-expression partners for DDX3X Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DDX3X Gene

Orthologs for DDX3X Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DDX3X Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DDX3X 35
  • 93.64 (n)
  • 97.88 (a)
DDX3X 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DDX3X 35
  • 94.65 (n)
  • 99.85 (a)
DDX3X 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ddx3x 35
  • 92.28 (n)
  • 98.64 (a)
Ddx3x 16
D1Pas1 36
  • 95 (a)
OneToMany
Ddx3x 36
  • 99 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 96 (a)
OneToMany
chicken
(Gallus gallus)
Aves DDX3X 35
  • 81.76 (n)
  • 92.43 (a)
DDX3X 36
  • 93 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 82 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ddx3x 35
  • 77.81 (n)
  • 87.42 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
ddx3 36
  • 73 (a)
ManyToMany
pl10 36
  • 76 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10835 35
fruit fly
(Drosophila melanogaster)
Insecta bel 35
  • 58.06 (n)
  • 63.23 (a)
bel 36
  • 51 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea laf-1 35
  • 56.33 (n)
  • 55.75 (a)
laf-1 36
  • 48 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DED1 36
  • 54 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G58570 35
  • 55.45 (n)
  • 55.89 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7412 35
barley
(Hordeum vulgare)
Liliopsida Hv.10750 35
rice
(Oryza sativa)
Liliopsida Os07g0202100 35
  • 55.7 (n)
  • 56.12 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.10226 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3988 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
ManyToMany
Species with no ortholog for DDX3X:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • 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 DDX3X Gene

ENSEMBL:
Gene Tree for DDX3X (if available)
TreeFam:
Gene Tree for DDX3X (if available)

Paralogs for DDX3X Gene

Paralogs for DDX3X Gene

(11) SIMAP similar genes for DDX3X Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for DDX3X Gene

genes like me logo Genes that share paralogs with DDX3X: view

Variants for DDX3X Gene

Sequence variations from dbSNP and Humsavar for DDX3X Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_035839 A breast cancer sample
VAR_075731 Mental retardation, X-linked 102 (MRX102)
VAR_075732 Mental retardation, X-linked 102 (MRX102)
VAR_075734 Mental retardation, X-linked 102 (MRX102)
VAR_075735 Mental retardation, X-linked 102 (MRX102)

Structural Variations from Database of Genomic Variants (DGV) for DDX3X Gene

Variant ID Type Subtype PubMed ID
esv33720 CNV Loss 17666407

Variation tolerance for DDX3X Gene

Residual Variation Intolerance Score: 19.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.08; 1.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DDX3X Gene

Human Gene Mutation Database (HGMD)
DDX3X

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDX3X Gene

Disorders for DDX3X Gene

MalaCards: The human disease database

(7) MalaCards diseases for DDX3X Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, x-linked 102
  • mrx102
precursor t-cell acute lymphoblastic leukemia
  • precursor t-cell acute lymphoblastic leukemia/lymphoma
unexplained intellectual disability
hepatitis b
  • chronic hepatitis b
hepatitis c virus
  • hepatitic c virus
- elite association - COSMIC cancer census association via MalaCards
Search DDX3X in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DDX3X_HUMAN
  • Mental retardation, X-linked 102 (MRX102) [MIM:300958]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX102 features include mild to severe intellectual disability, hypotonia, movement disorders, behavior problems, corpus callosum hypoplasia, and epilepsy. Additionally, patients manifest variable non-neurologic features such as joint hyperlaxity, skin pigmentary abnormalities, cleft lip and/or palate, hearing and visual impairment, and precocious puberty. {ECO:0000269 PubMed:26235985}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DDX3X

Genetic Association Database (GAD)
DDX3X
Human Genome Epidemiology (HuGE) Navigator
DDX3X
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DDX3X
genes like me logo Genes that share disorders with DDX3X: view

No data available for Genatlas for DDX3X Gene

Publications for DDX3X Gene

  1. Functional coherence of the human Y chromosome. (PMID: 9381176) Lahn B.T. … Page D.C. (Science 1997) 2 3 4 67
  2. DEAD/H BOX 3 (DDX3) helicase binds the RIG-I adaptor IPS-1 to up- regulate IFN-beta-inducing potential. (PMID: 20127681) Oshiumi H. … Seya T. (Eur. J. Immunol. 2010) 3 23
  3. Expression, purification, crystallization and preliminary X-ray diffraction analysis of the DDX3 RNA helicase domain. (PMID: 17401195) Rodamilans B. … Montoya G. (Acta Crystallogr. F 2007) 3 23
  4. DDX3, a DEAD box RNA helicase, is deregulated in hepatitis virus- associated hepatocellular carcinoma and is involved in cell growth control. (PMID: 16301996) Chang P.C. … Wu Lee Y.H. (Oncogene 2006) 3 23
  5. Transcriptional and post-transcriptional regulation of HIV-1 gene expression: role of cellular factors for Tat and Rev. (PMID: 17661632) Nekhai S. … Jeang K.T. (Future Microbiol 2006) 3 23

Products for DDX3X Gene

Sources for DDX3X Gene

Content