DPH2

Chr 1p34.1

diphthamide biosynthesis 2

MANE:: ENST00000255108.8

OMIM: 603456 ↗NCBI: 1802 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DPH2 · Q9BQC3

v62025-08-01

Predicted Aligned Error matrix for DPH2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.3/ 100

Confident

489 residues

Confidence breakdown

Very high(≥ 90)53%
Confident(70–90)28%
Low(50–70)12%
Very low(< 50)7%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

developmental delay with short stature, dysmorphic facial features, and sparse hair 2
0.54
neurodegenerative disease
0.45
developmental delay with short stature, dysmorphic facial features, and sparse hair 1
0.37
Global developmental delay
0.16
Short stature
0.14
ventricular septal defect
0.14
Intellectual disability
0.12
Macrocephaly
0.12
hepatocellular carcinoma
0.08
cancer
0.08

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

Protein function (UniProt)

2-(3-amino-3-carboxypropyl)histidine synthase subunit 2

Required for the first step of diphthamide biosynthesis, a post-translational modification of histidine which occurs in elongation factor 2 (PubMed:32576952). DPH1 and DPH2 transfer a 3-amino-3-carboxypropyl (ACP) group from S-adenosyl-L-methionine (SAM) to a histidine residue, the reaction is assisted by a reduction system comprising DPH3 and a NADH-dependent reductase (By similarity). Facilitates the reduction of the catalytic iron-sulfur cluster found in the DPH1 subunit (By similarity)