METTL23

Chr 17q25.2

methyltransferase 23, arginine

Aliases:: LOC124512
MANE:: ENST00000341249.11

OMIM: 615262 ↗NCBI: 124512 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

METTL23 · Q86XA0

v62025-08-01

Predicted Aligned Error matrix for METTL23 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.9/ 100

Very high

190 residues

Confidence breakdown

Very high(≥ 90)84%
Confident(70–90)14%
Low(50–70)2%
Very low(< 50)0%

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
Clefting
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

autosomal recessive non-syndromic intellectual disability
0.64
Intellectual disability
0.54
hereditary disease
0.51
retinitis pigmentosa
0.09
Cone rod dystrophy
0.09
pigment dispersion syndrome
0.09
auditory neuropathy-optic atrophy syndrome
0.08
optic atrophy 13 with retinal and foveal abnormalities
0.08
Leber hereditary optic neuropathy
0.08
Leber congenital amaurosis
0.08

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

Protein function (UniProt)

Histone-arginine methyltransferase METTL23

Histone methyltransferase that dimethylates histone H3 at 'Arg-17', forming asymmetric dimethylarginine (H3R17me2a), leading to activate transcription via chromatin remodeling (By similarity). Maternal factor involved in epigenetic chromatin reprogramming of the paternal genome in the zygote: mediates H3R17me2a, promoting histone H3.3 incorporation in the male pronucleus, leading to TET3 recruitment and subsequent DNA demethylation (By similarity)