DCBLD1
Discoidin, CUB and LCCL domain-containing protein 1
Gene Information Card
| Symbol | DCBLD1 |
|---|---|
| Full Name | Discoidin, CUB and LCCL domain containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q22.1 |
| NCBI Gene ID | 285761 ncbi.nlm.nih.gov/gene/285761 |
| Ensembl ID | ENSG00000164465 |
| UniProt ID | Q8N8Z6 |
| OMIM ID | 615745 |
| HGNC ID | 24632 |
| Aliases | FLJ11273, MGC131891 |
Description
DCBLD1 encodes a protein containing discoidin, CUB, and LCCL domains. It is involved in cell adhesion and signaling, with emerging roles in tumor progression and immune modulation. Expression is enriched in certain tissues and altered in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may promote tumor growth and metastasis | Expression profiling studies |
| Glioblastoma | Upregulation associated with poor prognosis | TCGA data analysis |
| Lung cancer | Potential oncogenic role via signaling pathways | Gene expression arrays |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Testis | 6.7 | Low |
| Brain | 4.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 15.2 | Moderate expression |
| U87MG (glioblastoma) | 22.1 | High expression |
| HEK293 | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A | Missense | 0.02% | Unknown significance |
| c.567_568del | Frameshift | 0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations may lead to truncated protein and loss of function.
Gain of Function (GOF)
Not well characterized; some missense variants may alter signaling.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion | • signal transduction |
| • extracellular region |
Pathways
• Integrin signaling
• ECM-receptor interaction
Protein Summary
DCBLD1 is a transmembrane protein with discoidin, CUB, and LCCL domains. It may mediate cell-matrix interactions and modulate signaling pathways relevant to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCBLD1 Knockout HEK293 Cell Line | EDJ-KQ13103 | Human | 285761 | Details Get a Quote |
| DCBLD1 Knockout A-549 Cell Line | EDJ-KQ42401 | Human | 285761 | Details Get a Quote |
| DCBLD1 Knockout HCT 116 Cell Line | EDJ-KQ42402 | Human | 285761 | Details Get a Quote |
| DCBLD1 Knockout HeLa Cell Line | EDJ-KQ42403 | Human | 285761 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
