DDX6 (DEAD-box helicase 6)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1656
Gene name DEAD-box helicase 6
Gene symbol DDX6
Synonyms (NCBI Gene)
HLR2IDDILFP54RCKRck/p54
Chromosome 11
Chromosome location 11q23.3
Summary This gene encodes a member of the DEAD box protein family. The protein is an RNA helicase found in P-bodies and stress granules, and functions in translation suppression and mRNA degradation. It is required for microRNA-induced gene silencing. Multiple al
SNPs SNP information provided by dbSNP.
5
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs1591885290 G>A Pathogenic Missense variant, coding sequence variant
rs1591885297 T>G Pathogenic Missense variant, coding sequence variant
rs1591885305 A>G Pathogenic Missense variant, coding sequence variant
rs1591885383 C>T Pathogenic Missense variant, coding sequence variant
rs1591885401 T>C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1634
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1634)
miRTarBase ID miRNA Experiments Reference
MIRT016661 hsa-miR-425-5p Sequencing 20371350
MIRT020341 hsa-miR-130b-3p Sequencing 20371350
MIRT022934 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT023959 hsa-miR-1-3p Proteomics 18668040
MIRT030008 hsa-miR-26b-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (53)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000792 Component Heterochromatin IEA
GO:0000932 Component P-body IBA
GO:0000932 Component P-body IDA 16699599, 20616046, 20826699, 22915799, 23125361, 25995375, 31422817
GO:0000932 Component P-body IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600326 2747 ENSG00000110367
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P26196
Protein name Probable ATP-dependent RNA helicase DDX6 (EC 3.6.4.13) (ATP-dependent RNA helicase p54) (DEAD box protein 6) (Oncogene RCK)
Protein function Essential for the formation of P-bodies, cytosolic membrane-less ribonucleoprotein granules involved in RNA metabolism through the coordinated storage of mRNAs encoding regulatory functions (PubMed:25995375, PubMed:27342281, PubMed:31422817). Pl
PDB 1VEC , 2WAX , 2WAY , 4CRW , 4CT4 , 4CT5 , 5ANR , 6F9S , 6S8S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00270 DEAD 120 → 287 DEAD/DEAH box helicase Domain
PF00271 Helicase_C 320 → 429 Helicase conserved C-terminal domain Family
Tissue specificity TISSUE SPECIFICITY: Abundantly expressed in most tissues.
Sequence 
MSTARTENPVIMGLSSQNGQLRGPVKPTGGPGGGGTQTQQQMNQLKNTNTINNGTQQQAQ
SMTTTIKPGDDWKKTLKLPPKDLRIKTSDVTSTKGNEFEDYCLKRELLMGIFEMGWEKPS
PIQEESIPIALSGRDILARAKNGTGKSGAYLIPLLERLDLKKDNIQAMVIVPTRELALQV
SQICIQVSKHMGGAKVMATTGGTNLRDDIMRLDDTVHVVIATPGRILDLIKKGVAKVDHV
QMIVLDEADKLLSQDFVQIMEDIILTLPKNRQILLYSATFPLSVQKFMNSHLQKPYEINL
MEELTLKGVTQYYAYVTERQKVHCLNTLFSRLQINQSIIFCNSSQRVELLAKKISQLGYS
CFYIHAKMRQEHRNRVFHDFRNGLCRNLVCTDLFTRGIDIQAVNVVINFDFPKLAETYLH
RIGRSGRFGHLGLAINLITYDDRFNLKSIEEQLGTEIKPIPSNIDKSLYVAEYHSEPVED
EKP
Sequence length 483
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  RNA degradation   mRNA decay by 5' to 3' exoribonuclease
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual developmental disorder with impaired language and dysmorphic facies Likely pathogenic; Pathogenic rs2501296630, rs1591885383, rs1591885305, rs1591885290, rs1591885297, rs1591885401, rs1860933779 RCV002468696
RCV000855695
RCV000855696
RCV000855697
RCV000855698
RCV000855699
RCV002280167
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DDX6-related disorder Uncertain significance; Likely benign; Benign rs2501296946, rs2501404361, rs551201488, rs200755405 RCV003408368
RCV003408371
RCV003974380
RCV003940680
Teratoma Uncertain significance rs2501319751 RCV003221375
Show/Hide Text Mining Associations (28)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anorchia Associate 29769412
Body Weight Associate 31422817
Cartilage Diseases Associate 27701424
Colorectal Neoplasms Associate 29987267
Congenital Abnormalities Associate 31422817
Developmental Disabilities Associate 31422817
Glioma Associate 26610392
Hypoxia Inhibit 23293030
Hypoxia Associate 34374627
Hypoxia Brain Associate 34374627