AlphaFold predicted structure
TNRC6B · Q9UPQ9

Mean pLDDT
39.1/ 100
Very low
1,833 residues
Confidence breakdown
- Very high(≥ 90)5%
- Confident(70–90)3%
- Low(50–70)3%
- Very low(< 50)89%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
trinucleotide repeat containing adaptor 6B
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedglobal developmental delay with speech and behavioral abnormalities
hereditary disease
complex neurodevelopmental disorder
autism spectrum disorder
Global developmental delay
Autistic behavior
neurodevelopmental disorder
uterine corpus leiomyoma
Abnormality of the skeletal system
alcohol drinking
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Trinucleotide repeat-containing gene 6B protein
Plays a role in RNA-mediated gene silencing by both micro-RNAs (miRNAs) and short interfering RNAs (siRNAs) (PubMed:16289642, PubMed:19167051, PubMed:19304925, PubMed:32354837). Required for miRNA-dependent translational repression and siRNA-dependent endonucleolytic cleavage of complementary mRNAs by argonaute family proteins (PubMed:16289642, PubMed:19167051, PubMed:19304925, PubMed:32354837). As scaffolding protein associates with argonaute proteins bound to partially complementary mRNAs and simultaneously can recruit CCR4-NOT and PAN deadenylase complexes (PubMed:21981923)
TNRC6B · Q9UPQ9

Mean pLDDT
39.1/ 100
Very low
1,833 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0