DPH5

Chr 1p21.2

diphthamide biosynthesis 5

Aliases:: CGI-30
MANE:: ENST00000370109.8

OMIM: 611075 ↗NCBI: 51611 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DPH5 · Q9H2P9

v62025-08-01

Predicted Aligned Error matrix for DPH5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.1/ 100

Very high

285 residues

Confidence breakdown

Very high(≥ 90)81%
Confident(70–90)15%
Low(50–70)1%
Very low(< 50)4%

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
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
0.70
neurodegenerative disease
0.37
ovarian dysfunction
0.25
neurodevelopmental disorder
0.19
multiple sclerosis
0.04
hyperaldosteronism
0.02
type 2 diabetes mellitus
0.02
hypertrophic cardiomyopathy
0.02
methicillin-resistant staphylococcus aureus infectious disease
0.02
neoplasm
0.01

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

Protein function (UniProt)

Diphthine methyl ester synthase

S-adenosyl-L-methionine-dependent methyltransferase that catalyzes four methylations of the modified target histidine residue in translation elongation factor 2 (EF-2), to form an intermediate called diphthine methyl ester. The four successive methylation reactions represent the second step of diphthamide biosynthesis