Gene
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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IDDILF
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.
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.
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.
GO ID Ontology Definition Evidence Reference
GO:0000792 Component Heterochromatin IEA
GO:0000932 Component P-body IBA 21873635
GO:0000932 Component P-body IDA 16699599, 20616046, 20826699, 22915799, 23125361, 25995375, 31422817
GO:0000932 Component P-body IMP 22022269
GO:0001520 Component Outer dense fiber IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600326 2747 ENSG00000110367
Protein
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
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autoimmune diseases Autoimmune Diseases rs869025224 21383967
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
31422817
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
31422817
Rheumatoid arthritis Rheumatoid Arthritis rs587776843 23143596
Unknown
Disease term Disease name Evidence References Source
Celiac disease Celiac disease GWAS
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Endometriosis Endometriosis GWAS
Biliary Cholangitis Biliary Cholangitis GWAS
Associations from Text Mining
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