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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DCBLD2
discoidin, CUB and LCCL domain containing 2
Chromosome 3 · 3q12.1|3
NCBI Gene: 131566Ensembl: ENSG00000057019.17HGNC: HGNC:24627UniProt: B7Z7Y3
52PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingwound healingplasma membranecell surfacepreeclampsiaAbnormality of the skeletal systemovarian neoplasmcervical carcinoma
✦AI Summary

DCBLD2 (discoidin, CUB and LCCL domain containing 2) is a transmembrane protein that functions as a key regulator of cellular signaling pathways and receptor endocytosis. The protein acts as a modulator of PDGFR-β endocytosis in vascular smooth muscle cells by interacting with Caveolin-1, preventing excessive receptor internalization and thereby controlling vascular hyperplasia 1. DCBLD2 serves as a downstream target of EGFR signaling, undergoing tyrosine phosphorylation in response to EGF stimulation 2. The protein plays complex roles in cancer biology, where its dysregulation contributes to malignant progression through multiple mechanisms. In breast phyllodes tumors, DCBLD2 interacts with CD146 to activate the PI3K/AKT pathway, promoting tumor growth 3. In glioblastoma, elevated DCBLD2 expression correlates with poor prognosis and enhances epithelial-mesenchymal transition by modulating E-cadherin, vimentin, and transcription factors like Snail and Twist 4. Conversely, DCBLD2 functions as a tumor suppressor in gastric cancer, where its expression is frequently downregulated through promoter hypermethylation, and restoration inhibits cell proliferation and invasion 5. The protein is also regulated by miR-451a in papillary thyroid cancer 6 and represents a potential therapeutic target, as demonstrated by siRNA-mediated silencing approaches 7. Recent genetic studies have identified ultra-rare DCBLD2 variants associated with relapsing polychondritis, suggesting broader roles in inflammatory diseases 8.

Sources cited
1
DCBLD2 regulates PDGFR-β endocytosis in vascular smooth muscle cells through Caveolin-1 interaction and controls vascular hyperplasia
PMID: 35929441
2
DCBLD2 is a tyrosine phosphorylation target of EGFR signaling
PMID: 17570516
3
DCBLD2 interacts with CD146 to activate PI3K/AKT pathway in breast phyllodes tumors
PMID: 37856423
4
DCBLD2 overexpression in glioblastoma correlates with poor prognosis and promotes epithelial-mesenchymal transition
PMID: 33788813
5
DCBLD2 functions as tumor suppressor in gastric cancer, frequently silenced by promoter hypermethylation
PMID: 18314483
6
DCBLD2 is regulated by miR-451a in papillary thyroid cancer
PMID: 36252912
7
DCBLD2 represents a therapeutic target for siRNA-mediated cancer treatment
PMID: 37477789
8
Ultra-rare DCBLD2 variants are associated with relapsing polychondritis
PMID: 37292664
Disease Associationsⓘ20
preeclampsiaOpen Targets
0.33Weak
Abnormality of the skeletal systemOpen Targets
0.32Weak
ovarian neoplasmOpen Targets
0.30Weak
cervical carcinomaOpen Targets
0.29Weak
ovarian dysfunctionOpen Targets
0.29Weak
open-angle glaucomaOpen Targets
0.28Weak
iron metabolism diseaseOpen Targets
0.27Weak
liver diseaseOpen Targets
0.27Weak
spontaneous abortionOpen Targets
0.26Weak
glaucomaOpen Targets
0.22Weak
heart diseaseOpen Targets
0.22Weak
placenta praeviaOpen Targets
0.20Weak
Abnormality of refractionOpen Targets
0.20Weak
metabolic diseaseOpen Targets
0.17Weak
pernicious anemiaOpen Targets
0.17Weak
myopathyOpen Targets
0.15Weak
refractive errorOpen Targets
0.12Weak
neoplasmOpen Targets
0.10Weak
cancerOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SEMA4BProtein interaction91%NAIF1Shared pathway33%ST7LShared pathway33%OSGIN1Shared pathway33%SERTAD3Shared pathway33%SERTAD2Shared pathway33%
Tissue Expression6 tissues
Heart
100%
Ovary
42%
Liver
21%
Lung
17%
Brain
16%
Bone Marrow
5%
Gene Interaction Network
Click a node to explore
DCBLD2SEMA4BNAIF1ST7LOSGIN1SERTAD3SERTAD2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96PD2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.64 [0.51–0.81]
RankingsWhere DCBLD2 stands among ~20K protein-coding genes
  • #8,544of 20,598
    Most Researched52
  • #6,770of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedDCBLD2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CD146 promotes malignant progression of breast phyllodes tumor through suppressing DCBLD2 degradation and activating the AKT pathway.
PMID: 37856423
Cancer Commun (Lond) · 2023
1.00
2
Transmembrane protein DCBLD2 is correlated with poor prognosis and affects phenotype by regulating epithelial-mesenchymal transition in human glioblastoma cells.
PMID: 33788813
Neuroreport · 2021
0.90
3
Engineering siRNA-loaded and RGDfC-targeted selenium nanoparticles for highly efficient silencing of DCBLD2 gene for colorectal cancer treatment.
PMID: 37477789
Discov Nano · 2023
0.80
4
miR-451a suppresses papillary thyroid cancer cell proliferation and invasion and facilitates apoptosis through targeting DCBLD2 and AKT1.
PMID: 36252912
Mol Cell Probes · 2022
0.70
5
Phosphoproteomics identified Endofin, DCBLD2, and KIAA0582 as novel tyrosine phosphorylation targets of EGF signaling and Iressa in human cancer cells.
PMID: 17570516
Proteomics · 2007
0.60