DCBLD2
Discoidin, CUB and LCCL domain-containing protein 2
Gene Information Card
| Symbol | DCBLD2 |
|---|---|
| Full Name | Discoidin, CUB and LCCL domain containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q12.1 |
| NCBI Gene ID | 131566 ncbi.nlm.nih.gov/gene/131566 |
| Ensembl ID | ENSG00000163874 |
| UniProt ID | Q96PD2 |
| OMIM ID | 608698 |
| HGNC ID | 24627 |
| Aliases | ESDN, CLCP1, DCBL |
Description
DCBLD2 (discoidin, CUB and LCCL domain containing 2) encodes a transmembrane protein involved in cell adhesion, migration, and receptor tyrosine kinase signaling. It is implicated in tumorigenesis and vascular development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung cancer | Overexpression promotes tumor growth and metastasis via EGFR/Akt signaling | PMID: 19584273 |
| Colorectal cancer | Upregulation correlates with poor prognosis and enhanced cell proliferation | PMID: 23361059 |
| Glioma | High expression associated with malignant progression and shorter survival | PMID: 25605248 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Colon | 8.3 | Low |
| Brain | 6.1 | Low |
| Heart | 4.2 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 15.2 | High expression |
| HCT116 (colorectal cancer) | 10.7 | Moderate expression |
| U87MG (glioma) | 9.4 | Moderate expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Cys) | Missense | 0.02% (COSMIC) | Unknown functional impact |
| c.1246G>A (p.Gly416Ser) | Missense | 0.01% (COSMIC) | Unknown functional impact |
| c.1472_1473insA (p.Asn491Lysfs*5) | Frameshift | <0.01% (COSMIC) | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Asn491Lysfs*5) likely result in truncated protein and loss of normal function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
No evidence for dominant-negative effects in current literature.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • receptor tyrosine kinase signaling pathway (GO:0007169) |
| • plasma membrane (GO:0005886) | • extracellular region (GO:0005576) |
Pathways
• EGFR signaling pathway
• Integrin signaling pathway
Protein Summary
DCBLD2 is a 795-amino-acid transmembrane protein containing discoidin, CUB, and LCCL domains. It localizes to the plasma membrane and extracellular space, modulating cell adhesion and growth factor signaling. Overexpression in several cancers suggests a role in tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCBLD2 Knockout HEK293 Cell Line | EDJ-KQ9271 | Human | 131566 | Details Get a Quote |
| DCBLD2 Knockout A-549 Cell Line | EDJ-KQ35873 | Human | 131566 | Details Get a Quote |
| DCBLD2 Knockout HCT 116 Cell Line | EDJ-KQ35874 | Human | 131566 | Details Get a Quote |
| DCBLD2 Knockout HeLa Cell Line | EDJ-KQ35875 | Human | 131566 | Details Get a Quote |
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