Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1654
Gene name Gene Name - the full gene name approved by the HGNC.
DEAD-box helicase 3 X-linked
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DDX3X
Synonyms (NCBI Gene) Gene synonyms aliases
CAP-Rf, DBX, DDX14, DDX3, HLP2, MRX102, MRXSSB
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.4
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs200427211 C>A,T Pathogenic Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs752738546 G>A,T Pathogenic Missense variant, coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs769546741 C>G,T Likely-pathogenic Coding sequence variant, non coding transcript variant, stop gained, synonymous variant, genic downstream transcript variant, 5 prime UTR variant
rs796052226 T>C Pathogenic Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs796052227 G>- Pathogenic Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004132 hsa-miR-192-5p Microarray 16822819
MIRT016125 hsa-miR-421 Sequencing 20371350
MIRT022863 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT024813 hsa-miR-215-5p Microarray 19074876
MIRT025200 hsa-miR-181a-5p Sequencing 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002376 Process Immune system process IEA
GO:0002753 Process Cytoplasmic pattern recognition receptor signaling pathway IDA 23478265
GO:0003676 Function Nucleic acid binding IEA
GO:0003677 Function DNA binding IDA 21589879
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300160 2745 ENSG00000215301
Protein
UniProt ID O00571
Protein name ATP-dependent RNA helicase DDX3X (EC 3.6.4.13) (CAP-Rf) (DEAD box protein 3, X-chromosomal) (DEAD box, X isoform) (DBX) (Helicase-like protein 2) (HLP2)
Protein function Multifunctional ATP-dependent RNA helicase (PubMed:17357160, PubMed:21589879, PubMed:31575075). The ATPase activity can be stimulated by various ribo-and deoxynucleic acids indicative for a relaxed substrate specificity (PubMed:29222110). In vit
PDB 2I4I , 2JGN , 3JRV , 4O2C , 4O2E , 4O2F , 4PX9 , 4PXA , 5E7I , 5E7J , 5E7M , 6CZ5 , 6O5F , 7LIU , 8SSW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00270 DEAD 204 392 DEAD/DEAH box helicase Domain
PF00271 Helicase_C 426 536 Helicase conserved C-terminal domain Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed (PubMed:15294876). In testis, expressed in spermatids (PubMed:15294876). Expressed in epidermis and liver (at protein level) (PubMed:16301996, PubMed:16818630). {ECO:0000269|PubMed:15294876, ECO:0000269|PubMed:16301996
Sequence
MSHVAVENALGLDQQFAGLDLNSSDNQSGGSTASKGRYIPPHLRNREATKGFYDKDSSGW
SSSKDKDAYSSFGSRSDSRGKSSFFSDRGSGSRGRFDDRGRSDYDGIGSRGDRSGFGKFE
RGGNSRWCDKSDEDDWSKPLPPSERLEQELFSGGNTGINFEKYDDIPVEATGNNCPPHIE
SFSDVEMGEIIMGNIELTRYTRPTPVQKHAIPIIKEKRDLMACAQTGSGKTAAFLLPILS
QIYSDGPGEALRAMKENGRYGRRKQYPISLVLAPTRELAVQIYEEARKFSYRSRVRPCVV
YGGADIGQQIRDLERGCHLLVATPGRLVDMMERGKIGLDFCKYLVLDEADRMLDMGFEPQ
IRRIVEQDTMPPKGVRHTMMFSATFPKEIQML
ARDFLDEYIFLAVGRVGSTSENITQKVV
WVEESDKRSFLLDLLNATGKDSLTLVFVETKKGADSLEDFLYHEGYACTSIHGDRSQRDR
EEALHQFRSGKSPILVATAVAARGLDISNVKHVINFDLPSDIEEYVHRIGRTGRVG
NLGL
ATSFFNERNINITKDLLDLLVEAKQEVPSWLENMAYEHHYKGSSRGRSKSSRFSGGFGAR
DYRQSSGASSSSFSSSRASSSRSGGGGHGSSRGFGGGGYGGFYNSDGYGGNYNSQGVDWW
GN
Sequence length 662
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  RIG-I-like receptor signaling pathway
Hepatitis B
Viral carcinogenesis
  Neutrophil degranulation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation intellectual disability rs886041705, rs1555950676, rs1555954380 N/A
Mental Retardation, X-Linked Intellectual disability, X-linked 102, Syndromic X-linked intellectual disability Claes-Jensen type rs875989803, rs1602132216, rs2063927503, rs1064796827, rs796052236, rs1555954284, rs875989802, rs1602136369, rs2063923605, rs1064795387, rs796052230, rs1555951993, rs886041705, rs1602134468, rs2063876114
View all (40 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Intellectual Disability-Hypotonia-Movement Disorder Syndrome, X-Linked X-linked intellectual disability-hypotonia-movement disorder syndrome N/A N/A GenCC
Medulloblastoma medulloblastoma N/A N/A ClinVar
Toriello-Carey Syndrome Toriello-Carey syndrome N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 23330003
Altitude Sickness Inhibit 33393628
Alzheimer Disease Associate 36928034
Anxiety Stimulate 35536379
Apraxias Associate 36117209
Astrocytoma Associate 30936465
Autism Spectrum Disorder Associate 35123134, 35536379
Brain Diseases Associate 27999982, 30936465
Brain Neoplasms Associate 30936465
Breast Neoplasms Associate 18264132, 23696831, 27999982, 28138868, 28869602, 29782654, 33974127, 35121200