Gene Gene information from NCBI Gene database.
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
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
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
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.
MIM HGNC e!Ensembl
600326 2747 ENSG00000110367
Protein Protein information from UniProt database.
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
QMIVLDEADKLLSQDFVQIMEDIILTLPKNRQILLYSATFPLSVQKF
MNSHLQKPYEINL
MEELTLKGVTQYYAYVTERQKVHCLNTLFSRLQINQSIIFCNSSQRVELLAKKISQLGYS
CFYIHAKMRQEHRNRVFHDFRNGLCRNLVCTDLFTRGIDIQAVNVVINFDFPKLAETYLH
RIGRSGRFG
HLGLAINLITYDDRFNLKSIEEQLGTEIKPIPSNIDKSLYVAEYHSEPVED
EKP
Sequence length 483
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  RNA degradation   mRNA decay by 5' to 3' exoribonuclease
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual developmental disorder with impaired language and dysmorphic facies Likely pathogenic; Pathogenic rs2501296630, rs1591885383, rs1591885305, rs1591885290, rs1591885297, rs1591885401, rs1860933779 RCV002468696
RCV000855695
RCV000855696
RCV000855697
RCV000855698
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autoimmune Diseases Autoimmune Diseases GWASDB_DG 21383967
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 10360675, 11751426, 12823589, 29314290, 8108133
★☆☆☆☆
Found in Text Mining only
Body Weight Body weight Pubtator 31422817 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Abnormalities Cardiovascular Abnormalities GENOMICS_ENGLAND_DG 31422817
★☆☆☆☆
Found in Text Mining only
Cartilage Diseases Cartilage disease Pubtator 27701424 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 29314290
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 29987267 Associate
★☆☆☆☆
Found in Text Mining only
Congenital Abnormalities Congenital abnormalities Pubtator 31422817 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 31422817 Associate
★☆☆☆☆
Found in Text Mining only
Dysmorphic features Dysmorphic Features BEFREE 31422817
★☆☆☆☆
Found in Text Mining only