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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HDDC3
HD domain containing 3
Chromosome 15 · 15q26.1
NCBI Gene: 374659Ensembl: ENSG00000184508.12HGNC: HGNC:30522UniProt: Q8N4P3
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingguanosine-3',5'-bis(diphosphate) 3'-diphosphatase activitytype 2 diabetes mellitusneoplasmHyperlipoproteinemia type 1leukemia
✦AI Summary

HDDC3 (HD domain containing 3) encodes a ppGpp hydrolase enzyme, the metazoan ortholog of bacterial SpoT protein 1. The protein contains an active site for ppGpp hydrolysis and a conserved His-Asp-box motif for Mn2+ binding, efficiently catalyzing guanosine 3',5'-diphosphate (ppGpp) hydrolysis both in vitro and in vivo 1. HDDC3 functions in starvation response pathways; deletion in Drosophila induces retarded body growth and impaired starvation resistance 1. Recent evidence demonstrates that ppGpp accumulates in animal cells and triggers metabolic changes, cell death, and lethality, establishing a ppGpp-dependent stringent response in metazoans 2. Beyond metabolic regulation, HDDC3 demonstrates clinical relevance as a differentially expressed gene associated with ischemic stroke risk, identified as a feature gene in predictive nomograms 3, and serves as a diagnostic biomarker for polycystic ovary syndrome (PCOS) with high discriminatory power (AUC: 0.918) 4. In PCOS, HDDC3 expression positively correlates with immune regulatory cells including T regulatory cells, activated mast cells, and monocytes 4. The gene is also upregulated in stress-responsive fibroblasts deficient for NOX4 5, suggesting broader roles in cellular stress adaptation beyond canonical starvation responses.

Sources cited
1
HDDC3 encodes Mesh1, the functional SpoT ortholog in metazoa with ppGpp hydrolase activity and roles in starvation responses
PMID: 20818390
2
ppGpp detection in animal cells and Mesh1-mediated stringent response, establishing physiological relevance of ppGpp in metazoans
PMID: 33188280
3
HDDC3 identified as feature gene for ischemic stroke risk prediction in nomogram based on causal associations with blood pressure and circulating lipids
PMID: 38591222
4
HDDC3 serves as diagnostic biomarker for PCOS (AUC: 0.918) and correlates with immune cell infiltration patterns
PMID: 35794640
5
HDDC3 upregulation in stress-responsive fibroblasts under NOX4-deficient conditions, indicating role in cellular stress adaptation
PMID: 36708644
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.30Weak
neoplasmOpen Targets
0.08Suggestive
Hyperlipoproteinemia type 1Open Targets
0.05Suggestive
leukemiaOpen Targets
0.04Suggestive
acute myeloid leukemiaOpen Targets
0.04Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.04Suggestive
sideroblastic anemia 3Open Targets
0.04Suggestive
hemochromatosis type 2BOpen Targets
0.04Suggestive
polycystic ovary syndromeOpen Targets
0.04Suggestive
familial apolipoprotein C-II deficiencyOpen Targets
0.04Suggestive
congenital bile acid synthesis defect 5Open Targets
0.03Suggestive
Congenital bile acid synthesis defect type 1Open Targets
0.03Suggestive
Senior-Boichis syndromeOpen Targets
0.03Suggestive
progressive familial intrahepatic cholestasisOpen Targets
0.03Suggestive
cholestasis, progressive familial intrahepatic, 12Open Targets
0.03Suggestive
severe congenital hypochromic anemia with ringed sideroblastsOpen Targets
0.03Suggestive
progressive familial intrahepatic cholestasis type 3Open Targets
0.03Suggestive
cholestasis, progressive familial intrahepatic, 7, with or without hearing lossOpen Targets
0.03Suggestive
CCDC115-CDGOpen Targets
0.03Suggestive
congenital disorder of glycosylation type IIOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MRPL19Protein interaction100%MRPL27Protein interaction100%MRPL20Protein interaction100%MRPS16Protein interaction100%RPS18Protein interaction100%MRPS12Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
99%
Brain
77%
Bone Marrow
71%
Ovary
52%
Lung
49%
Gene Interaction Network
Click a node to explore
HDDC3MRPL19MRPL27MRPL20MRPS16RPS18MRPS12
PROTEIN STRUCTURE
Preparing viewer…
PDB3NR1 · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.49LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.99 [0.68–1.49]
RankingsWhere HDDC3 stands among ~20K protein-coding genes
  • #13,672of 20,598
    Most Researched22
  • #15,088of 17,882
    Most Constrained (LOEUF)1.49
Genes detectedHDDC3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Exploring Genetic Associations of 3 Types of Risk Factors With Ischemic Stroke: An Integrated Bioinformatics Study.
PMID: 38591222
Stroke · 2024
1.00
2
MESH1 is a cytosolic NADPH phosphatase that regulates ferroptosis.
PMID: 32462112
Nat Metab · 2020
0.90
3
Identification of novel candidate biomarkers and immune infiltration in polycystic ovary syndrome.
PMID: 35794640
J Ovarian Res · 2022
0.80
4
NADPH oxidase 4 is dispensable for skin myofibroblast differentiation and wound healing.
PMID: 36708644
Redox Biol · 2023
0.70
5
MicroRNA related polymorphisms and breast cancer risk.
PMID: 25390939
PLoS One · 2014
0.60