NSUN3

Chr 3q11.2

NOP2/Sun RNA methyltransferase 3

Aliases:: FLJ22609
MANE:: ENST00000314622.9

OMIM: 617491 ↗NCBI: 63899 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

NSUN3 · Q9H649

v62025-08-01

Predicted Aligned Error matrix for NSUN3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.9/ 100

Very high

340 residues

Confidence breakdown

Very high(≥ 90)78%
Confident(70–90)15%
Low(50–70)2%
Very low(< 50)5%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

combined oxidative phosphorylation deficiency 48
0.71
hereditary disease
0.41
clear cell renal carcinoma
0.33
deep vein thrombosis
0.32
renal carcinoma
0.27
venous thromboembolism
0.27
Thromboembolism
0.26
type 2 diabetes mellitus
0.23
diabetes mellitus
0.19
esophageal cancer
0.19

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

Protein function (UniProt)

tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial

Mitochondrial tRNA methyltransferase that mediates methylation of cytosine to 5-methylcytosine (m5C) at position 34 of mt-tRNA(Met) (PubMed:27214402, PubMed:27356879, PubMed:27497299). mt-tRNA(Met) methylation at cytosine(34) takes place at the wobble position of the anticodon and initiates the formation of 5-formylcytosine (f(5)c) at this position (PubMed:27214402, PubMed:27356879, PubMed:27497299). mt-tRNA(Met) containing the f(5)c modification at the wobble position enables recognition of the AUA codon in addition to the AUG codon, expanding codon recognition in mitochondrial translation (PubMed:27356879, PubMed:27497299)