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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DPH3
diphthamide biosynthesis 3
Chromosome 3 · 3p25.1
NCBI Gene: 285381Ensembl: ENSG00000154813.11HGNC: HGNC:27717UniProt: Q96FX2
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of protein secretionpositive regulation of bindingcytosolnucleusgastric cancerjaw diseasemelanomahypertension
✦AI Summary

DPH3 (diphthamide biosynthesis 3) encodes an essential enzyme required for diphthamide synthesis, a critical post-translational modification of eukaryotic translation elongation factor 2 (eEF2) that ensures reading-frame fidelity during protein translation 1. DPH3 functions as an electron donor and iron chaperone, maintaining the iron-sulfur clusters in DPH1-DPH2 complexes in their active, reduced state by donating iron atoms to reform degraded [4Fe-4S] clusters [UniProt]. The protein also associates with the elongator complex and contributes to tRNA wobble base modifications [UniProt]. Clinically, DPH3 has significant relevance in cancer, particularly skin cancers. Frequent somatic mutations occur in the DPH3 promoter region in melanoma (10%), basal cell carcinoma (42-49%), and squamous cell carcinoma (39%), displaying typical UV-signature mutations 234. These promoter mutations show increased activity in reporter assays, though their functional impact on transcription remains unclear 2. Additionally, DPH3 promotes melanoma cell migration and metastasis through AKT signaling pathway activation 5. The gene's involvement in diphthamide synthesis also makes it relevant for understanding viral infections, as diphthamide may restrict viral propagation 1.

Sources cited
1
DPH3 is required for diphthamide synthesis, a modification of eEF2 that ensures translation fidelity, and may restrict viral propagation
PMID: 38097404
2
Frequent DPH3 promoter mutations occur in skin cancers with UV-signature patterns, showing increased promoter activity
PMID: 26416425
3
DPH3 promoter mutations found in 38.2% of basal cell carcinomas, co-occurring with other cancer-associated mutations
PMID: 32409749
4
DPH3 promoter mutations detected in 49.1% of BCCs, with high mutation rates across BCC subtypes
PMID: 34168209
5
DPH3 promotes melanoma cell migration, invasion and metastasis through AKT signaling pathway
PMID: 23185508
Disease Associationsⓘ20
gastric cancerOpen Targets
0.16Weak
jaw diseaseOpen Targets
0.11Weak
melanomaOpen Targets
0.09Suggestive
hypertensionOpen Targets
0.07Suggestive
nephrotic syndromeOpen Targets
0.07Suggestive
pregnancy disorderOpen Targets
0.07Suggestive
essential hypertensionOpen Targets
0.07Suggestive
osteitis deformansOpen Targets
0.06Suggestive
pyelonephritisOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
major salivary gland cancerOpen Targets
0.05Suggestive
COVID-19Open Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
skin basal cell carcinomaOpen Targets
0.03Suggestive
renal osteodystrophyOpen Targets
0.02Suggestive
refractive errorOpen Targets
0.02Suggestive
HypercholesterolemiaOpen Targets
0.02Suggestive
skin cancerOpen Targets
0.02Suggestive
squamous cell carcinomaOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EEF2Protein interaction99%ELP1Protein interaction93%ELP4Protein interaction93%ELP3Protein interaction93%KTI12Protein interaction93%DPH1Protein interaction81%
Tissue Expression6 tissues
Heart
100%
Lung
64%
Brain
62%
Liver
54%
Bone Marrow
41%
Ovary
31%
Gene Interaction Network
Click a node to explore
DPH3EEF2ELP1ELP4ELP3KTI12DPH1
PROTEIN STRUCTURE
Preparing viewer…
PDB2JR7 · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.44LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.77 [0.44–1.44]
RankingsWhere DPH3 stands among ~20K protein-coding genes
  • #13,891of 20,598
    Most Researched21
  • #14,774of 17,882
    Most Constrained (LOEUF)1.44
Genes detectedDPH3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Diphthamide - a conserved modification of eEF2 with clinical relevance.
PMID: 38097404
Trends Mol Med · 2024
1.00
2
Frequent DPH3 promoter mutations in skin cancers.
PMID: 26416425
Oncotarget · 2015
0.90
3
Understanding the Molecular Genetics of Basal Cell Carcinoma.
PMID: 29165358
Int J Mol Sci · 2017
0.80
4
Genetic alterations in seborrheic keratoses.
PMID: 28410231
Oncotarget · 2017
0.70
5
Coding and noncoding somatic mutations in candidate genes in basal cell carcinoma.
PMID: 32409749
Sci Rep · 2020
0.60