DDX3X Chromosome X
DEAD-box helicase 3 X-linked
Upload your DNA to see your personal genotypes for variants in DDX3X.
What This Gene Does
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]
Gene Info
Gene Group
DEAD-box helicases
Locus Type
gene with protein product
Location
Xp11.4
Ensembl
ENSG00000215301
Associated Conditions (33)
Poly (ADP-Ribose) polymerase inhibitor response
Inborn genetic diseases
DDX3X-related X-linked intellectual disability
Intellectual disability
X-linked 102
X-linked syndromic intellectual disability
Lymphoma
DDX3X-related disorder
Nonpapillary renal cell carcinoma
Medulloblastoma WNT activated
Neurodevelopmental delay
Medulloblastoma
Marfanoid habitus and intellectual disability
Rare genetic intellectual disability
Thyroid cancer
nonmedullary
1
See cases
DDX3X-Related Neurodevelopmental Disorder
EBV-positive nodal T- and NK-cell lymphoma
+13 more conditions
Key Variants
RS1555951992
drug response
Poly (ADP-Ribose) polymerase inhibitor response, Poly (ADP-Ribose) polymerase inhibitor response
Drug Response
RS1057523822
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1064794993
Conflicting classifications of pathogenicity
DDX3X-related X-linked intellectual disability, DDX3X-related X-linked intellectual disability
Health Risk
RS1064795323
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 102, Intellectual disability
Health Risk
RS1188370836
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1302694358
Conflicting classifications of pathogenicity
Health Risk
RS1307578363
Conflicting classifications of pathogenicity
X-linked syndromic intellectual disability, X-linked syndromic intellectual disability
Health Risk
RS1555953527
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, X-linked 102
Health Risk
RS2063889864
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 102, Intellectual disability
Health Risk
RS2063923789
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 102, Intellectual disability
Health Risk
RS2063940085
Conflicting classifications of pathogenicity
Health Risk
RS2147356713
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 102, Intellectual disability
Health Risk
All Variants (289)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1569240005 | Health Risk | Pathogenic | Intellectual disability, X-linked 102, Cerebellar vermis hypoplasia |
| RS1602119305 | Health Risk | Pathogenic | Intellectual disability, X-linked 102, Intellectual disability |
| RS1602126956 | Health Risk | Pathogenic | — |
| RS1602127262 | Health Risk | Pathogenic | Intellectual disability, X-linked 102, Intellectual disability |
| RS1602129221 | Health Risk | Pathogenic | — |
| RS1602129242 | Health Risk | Pathogenic | — |
| RS1602131321 | Health Risk | Pathogenic | — |
| RS1602131859 | Health Risk | Pathogenic | Intellectual disability, X-linked 102, Neurodevelopmental disorder |
| RS1602134248 | Health Risk | Pathogenic | Intellectual disability, X-linked 102, Intellectual disability |
| RS1602134459 | Health Risk | Pathogenic | Intellectual disability, X-linked 102, Intellectual disability |
| RS1602135698 | Health Risk | Pathogenic | Intellectual disability, X-linked 102, Intellectual disability |
| RS1602135779 | Health Risk | Pathogenic | — |
| RS1602136301 | Health Risk | Pathogenic | — |
| RS200427211 | Health Risk | Pathogenic | — |
| RS2063787069 | Health Risk | Pathogenic | — |
| RS2063787500 | Health Risk | Pathogenic | — |
| RS2063787817 | Health Risk | Pathogenic | Intellectual disability, Lymphoma, Intellectual disability |
| RS2063787844 | Health Risk | Pathogenic | — |
| RS2063850491 | Health Risk | Pathogenic | — |
| RS2063866727 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2063867157 | Health Risk | Pathogenic | — |
| RS2063875918 | Health Risk | Pathogenic | — |
| RS2063876114 | Health Risk | Pathogenic | Intellectual disability, X-linked 102, Intellectual disability |
| RS2063876197 | Health Risk | Pathogenic | Intellectual disability, X-linked 102, Intellectual disability |
| RS2063876594 | Health Risk | Pathogenic | Intellectual disability, X-linked 102, Intellectual disability |
| RS2063885834 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2063889019 | Health Risk | Pathogenic | Intellectual disability, X-linked 102, Intellectual disability |
| RS2063893070 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2063908570 | Health Risk | Pathogenic | Intellectual disability, X-linked 102, Intellectual disability |
| RS2063910538 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2063910640 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2063911610 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2063922977 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2063923605 | Health Risk | Pathogenic | Intellectual disability, X-linked 102, Intellectual disability |
| RS2063923749 | Health Risk | Pathogenic | Intellectual disability, X-linked 102, Intellectual disability |
| RS2063927503 | Health Risk | Pathogenic | Intellectual disability, X-linked 102, Intellectual disability |
| RS2063927827 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2063928899 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS2063932925 | Health Risk | Pathogenic | — |
| RS2063933550 | Health Risk | Pathogenic | Intellectual disability, X-linked 102, Intellectual disability |
| RS2063933817 | Health Risk | Pathogenic | Global developmental delay, Microcephaly, Delayed speech and language development |
| RS2063939905 | Health Risk | Pathogenic | Intellectual disability, Inborn genetic diseases, Intellectual disability |
| RS2147340483 | Health Risk | Pathogenic | Intellectual disability, X-linked 102, Intellectual disability |
| RS2147340518 | Health Risk | Pathogenic | — |
| RS2147343930 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2147348607 | Health Risk | Pathogenic | — |
| RS2147348697 | Health Risk | Pathogenic | Intellectual disability, X-linked 102, Intellectual disability |
| RS2147350816 | Health Risk | Pathogenic | Rare genetic intellectual disability, Intellectual disability, X-linked 102 |
| RS2147350843 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2147351713 | Health Risk | Pathogenic | — |