DDX6

Chr 11q23.3

DEAD-box helicase 6

Aliases:: RCK, Rck/p54
MANE:: ENST00000534980.7

OMIM: 600326 ↗NCBI: 1656 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DDX6 · P26196

v62025-08-01

Predicted Aligned Error matrix for DDX6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.1/ 100

Confident

483 residues

Confidence breakdown

Very high(≥ 90)73%
Confident(70–90)11%
Low(50–70)1%
Very low(< 50)16%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

intellectual developmental disorder with impaired language and dysmorphic facies
0.65
Intellectual disability
0.55
neurodegenerative disease
0.46
lung carcinoma
0.37
Global developmental delay
0.37
Abnormality of the cardiovascular system
0.37
disease of genitourinary system
0.37
bile duct carcinoma
0.37
hemangioblastoma
0.37
Abnormality of limbs
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Probable ATP-dependent RNA helicase DDX6

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). Plays a role in P-bodies to coordinate the storage of translationally inactive mRNAs in the cytoplasm and prevent their degradation (PubMed:27342281). In the process of mRNA degradation, plays a role in mRNA decapping (PubMed:16364915). Blocks autophagy in nutrient-rich conditions by repressing the expression of ATG-related genes through degradation of their transcripts (PubMed:26098573)