AlphaFold predicted structure
NSUN6 · Q8TEA1
Mean pLDDT
94.2/ 100
Very high
469 residues
Confidence breakdown
- Very high(≥ 90)88%
- Confident(70–90)10%
- Low(50–70)2%
- Very low(< 50)0%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
NSUN6
Chr 10p12.31NOP2/Sun RNA methyltransferase 6
- Aliases:
- FLJ23743
- MANE:
- ENST00000377304.7
Annotations refreshed 7 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
intellectual developmental disorder, autosomal recessive 82
0.56glomerulonephritis
0.36jaw disease
0.29pulmonary edema
0.26Dental malocclusion
0.21placental retention
0.19adolescent idiopathic scoliosis
0.19upper respiratory tract disorder
0.14liver disorder
0.14alcohol drinking
0.13
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
tRNA (cytosine(72)-C(5))-methyltransferase NSUN6
S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C5 position of cytosine 72 in tRNA(Thr)(TGT) and tRNA(Cys)(GCA) (PubMed:26160102, PubMed:27703015, PubMed:28531330). In vitro also methylates tRNA(Thr)(AGT) (PubMed:26160102, PubMed:27703015). Methylation requires, in the acceptor stem region, the presence of the 3'-CCA terminus, the target site C72, the discriminator base U73, and the second and third base pairs (2:71 and 3:70) in the tRNA substrates (PubMed:26160102, PubMed:27703015)
Diseases associated with NSUN6
Curated MONDO disease pages that list NSUN6 among their top associated genes.