CUZD1 Gene - CUB And Zona Pellucida Like Domain 1
A gene encoding a protein with CUB and zona pellucida-like domains, involved in pancreatic and reproductive biology.
Gene Information Card
| Symbol | CUZD1 |
|---|---|
| Full Name | CUB And Zona Pellucida Like Domain 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q26.13 |
| NCBI Gene ID | 50624 ncbi.nlm.nih.gov/gene/50624 |
| Ensembl ID | ENSG00000138193 |
| UniProt ID | Q86UP6 |
| OMIM ID | 615146 |
| HGNC ID | 24291 |
| Aliases | DUOXA2, UO-44, UO44 |
Description
CUZD1 (CUB And Zona Pellucida Like Domain 1) is a protein-coding gene located on chromosome 10q26.13. The encoded protein contains both CUB and zona pellucida (ZP) domains, suggesting roles in extracellular matrix interactions and cell adhesion. CUZD1 is highly expressed in the pancreas and ovary, and has been implicated in pancreatic cancer and ovarian cancer as a potential biomarker.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pancreatic Cancer | Overexpression of CUZD1 in pancreatic ductal adenocarcinoma may promote tumor growth and invasion; used as a serum biomarker. | PMID: 23431173, PMID: 25670082 |
| Ovarian Cancer | CUZD1 is upregulated in ovarian cancer tissues and may serve as a diagnostic or prognostic marker. | PMID: 21799853 |
| Endometriosis | CUZD1 expression is altered in endometriotic lesions, suggesting a role in endometrial biology. | PMID: 23349080 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 112.8 | High |
| Ovary | 45.2 | Medium |
| Fallopian Tube | 30.1 | Medium |
| Testis | 12.5 | Low |
| Thyroid | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 (pancreatic cancer) | 85.6 | High expression |
| MIA PaCa-2 (pancreatic cancer) | 72.3 | High expression |
| OVCAR-3 (ovarian cancer) | 55.4 | Medium expression |
| HeLa (cervical cancer) | 10.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.452G>A (p.Arg151His) | Missense | <0.01% | Unknown; rare variant in population databases |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in CUZD1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CUZD1.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in CUZD1.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • extracellular matrix (GO:0031012) |
| • cell adhesion (GO:0007155) | • protein binding (GO:0005515) |
Pathways
• No specific curated pathways in Reactome or KEGG for CUZD1.
Protein Summary
The CUZD1 protein (UniProt Q86UP6) contains a signal peptide, a CUB domain, and a zona pellucida (ZP) domain. It is secreted and may function in extracellular matrix organization and cell-cell interactions. The protein is glycosylated and has been detected in serum, making it a candidate biomarker for pancreatic and ovarian cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CUZD1 Knockout HEK293 Cell Line | EDJ-KQ10787 | Human | 50624 | Details Get a Quote |
| CUZD1 Knockout HCT 116 Cell Line | EDJ-KQ37127 | Human | 50624 | Details Get a Quote |
| CUZD1 Knockout A-549 Cell Line | EDJ-KQ38420 | Human | 50624 | Details Get a Quote |
| CUZD1 Knockout HeLa Cell Line | EDJ-KQ38422 | Human | 50624 | Details Get a Quote |
