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7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DBNDD1
dysbindin domain containing 1
Chromosome 16 · 16q24.3
NCBI Gene: 79007Ensembl: ENSG00000003249.15HGNC: HGNC:28455UniProt: D3DX86
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of signal transductioncytoplasmhair colorbasal cell carcinomaskin neoplasmskin carcinoma in situ
✦AI Summary

DBNDD1 (dysbindin domain containing 1) is a conserved eukaryotic protein with an intrinsically disordered structure 1. While its precise molecular mechanisms remain poorly characterized, emerging evidence implicates DBNDD1 in signal transduction regulation and cancer pathogenesis. In colorectal cancer, DBNDD1 functions as a key driver of disease progression through a synergistic signaling pathway. DBNDD1 promotes GDF15 induction, which activates NF-κB/RELA signaling to enhance cancer cell proliferation, migration, and invasion 2. DBNDD1 knockdown inhibits these malignant phenotypes in vitro and reduces tumor growth in vivo 2. Higher DBNDD1 expression correlates with worse overall survival in colorectal cancer patients 2. Machine learning models identify DBNDD1 as one of the top predictive genes for colorectal cancer diagnosis 3. Beyond colorectal cancer, DBNDD1 is associated with melanoma susceptibility as a genome-wide significant locus 4. In prostate cancer, upregulated DBNDD1 correlates with cell cycle and mitotic pathways, while its expression associates with immunosuppressive immune infiltration patterns (elevated MDSCs, M2 macrophages; reduced CD8+ T cells, M1 macrophages) 5. DBNDD1 was additionally identified as a feature gene in keratoconus, a corneal disease 6. These findings position DBNDD1 as a promising therapeutic target for precision medicine approaches in multiple cancer types.

Sources cited
1
DBNDD1 is an intrinsically disordered protein with poorly investigated structure and function
PMID: 35474152
2
DBNDD1 promotes GDF15 induction leading to NF-κB activation in colorectal cancer; DBNDD1 knockdown inhibits cancer cell proliferation, migration, invasion in vitro and tumor growth in vivo; higher DBNDD1 expression correlates with worse overall survival
PMID: 41182793
3
DBNDD1 is among the top five genes predicted by XGBoost machine learning for colorectal cancer diagnosis
PMID: 41595533
4
DBNDD1 is a genome-wide significant melanoma susceptibility gene identified through functional annotation of GWAS
PMID: 31630191
5
DBNDD1 upregulation in prostate cancer correlates with cell cycle and mitotic pathways; associated with immunosuppressive immune infiltration patterns
PMID: 37569304
6
DBNDD1 identified as a feature gene in keratoconus through Lasso regression analysis
PMID: 39300613
Disease Associationsⓘ20
hair colorOpen Targets
0.38Weak
basal cell carcinomaOpen Targets
0.35Weak
skin neoplasmOpen Targets
0.35Weak
skin carcinoma in situOpen Targets
0.33Weak
melanomaOpen Targets
0.32Weak
cancerOpen Targets
0.32Weak
suntanOpen Targets
0.32Weak
melanocytic nevusOpen Targets
0.32Weak
skin diseaseOpen Targets
0.30Weak
cutaneous melanomaOpen Targets
0.29Weak
skin cancerOpen Targets
0.28Weak
hemangioma of subcutaneous tissueOpen Targets
0.23Weak
androgenetic alopeciaOpen Targets
0.22Weak
eye inflammationOpen Targets
0.21Weak
lip cancerOpen Targets
0.20Weak
neurodegenerative diseaseOpen Targets
0.17Weak
radiodermatitisOpen Targets
0.15Weak
neoplasmOpen Targets
0.15Weak
Abnormality of skin pigmentationOpen Targets
0.13Weak
mathematical abilityOpen Targets
0.13Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HPCAL1Shared pathway100%VSNL1Shared pathway100%PPP6R2Shared pathway100%PPP6R1Shared pathway100%RGS22Shared pathway100%PPP6R3Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Liver
17%
Heart
12%
Lung
9%
Ovary
8%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
DBNDD1HPCAL1VSNL1PPP6R2PPP6R1RGS22PPP6R3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H9R9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.46LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.90 [0.58–1.46]
RankingsWhere DBNDD1 stands among ~20K protein-coding genes
  • #16,433of 20,598
    Most Researched12
  • #14,935of 17,882
    Most Constrained (LOEUF)1.46
Genes detectedDBNDD1
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Backbone and side chain resonance assignment of the intrinsically disordered human DBNDD1 protein.
PMID: 35474152
Biomol NMR Assign · 2022
1.00
2
Multi-dataset identification of innovative feature genes and molecular mechanisms in keratoconus.
PMID: 39300613
J Cell Mol Med · 2024
0.86
3
Synergistic DBNDD1-GDF15 Signaling Activates the NF-κB Pathway to Promote Colorectal Cancer Progression.
PMID: 41182793
Mol Cancer Res · 2026
0.71
4
Functional annotation of melanoma risk loci identifies novel susceptibility genes.
PMID: 31630191
Carcinogenesis · 2020
0.57
5
Gene Expression-Based Colorectal Cancer Prediction Using Machine Learning and SHAP Analysis.
PMID: 41595533
Genes (Basel) · 2026
0.43