DDX6 (DEAD-box helicase 6)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1656
Gene name Gene Name - the full gene name approved by the HGNC.
DEAD-box helicase 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DDX6
Synonyms (NCBI Gene) Gene synonyms aliases
HLR2, IDDILF, P54, RCK, Rck/p54
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600326 2747 ENSG00000110367
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (10)
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
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Asthma Asthma N/A N/A GWAS
Biliary Cholangitis Primary biliary cholangitis N/A N/A GWAS
Biliary Cirrhosis Primary biliary cirrhosis N/A N/A GWAS
Show/Hide Text Mining Associations (28)
Associations from Text Mining Disease 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