METTL5

Chr 2q31.1

methyltransferase 5, N6-adenosine

Aliases:: HSPC133
MANE:: ENST00000260953.10

OMIM: 618628 ↗NCBI: 29081 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

METTL5 · Q9NRN9

v62025-08-01

Predicted Aligned Error matrix for METTL5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.6/ 100

Very high

209 residues

Confidence breakdown

Very high(≥ 90)81%
Confident(70–90)12%
Low(50–70)6%
Very low(< 50)1%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

intellectual developmental disorder, autosomal recessive 72
0.70
Severe intellectual disability
0.43
microcephaly with intellectual disability
0.37
autosomal recessive primary microcephaly
0.37
neurodegenerative disease
0.32
hereditary disease
0.19
hepatocellular carcinoma
0.11
gastric cancer
0.10
preeclampsia
0.09
diabetes mellitus
0.09

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

Protein function (UniProt)

rRNA N(6)-adenosine-methyltransferase METTL5

Catalytic subunit of a heterodimer with TRMT112, which specifically methylates the 6th position of adenine in position 1832 of 18S rRNA (PubMed:31328227, PubMed:32217665, PubMed:33357433, PubMed:33428944, PubMed:35033535). N6-methylation of adenine(1832) in 18S rRNA resides in the decoding center of 18S rRNA and is required for translation and embryonic stem cells (ESCs) pluripotency and differentiation (PubMed:33357433)