CPED1: Cadherin-Like and PC-Esterase Domain Containing 1
A gene encoding a protein with cadherin-like and esterase domains, implicated in bone mineral density regulation and Wnt signaling.
Gene Information Card
| Symbol | CPED1 |
|---|---|
| Full Name | Cadherin-Like and PC-Esterase Domain Containing 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 7q31.31 |
| NCBI Gene ID | 124976 ncbi.nlm.nih.gov/gene/124976 |
| Ensembl ID | ENSG00000106034 |
| UniProt ID | Q5T8A9 |
| OMIM ID | 614052 |
| HGNC ID | 26169 |
| Aliases | C7orf58, DCST1, FLJ20171 |
Description
CPED1 (Cadherin-Like and PC-Esterase Domain Containing 1) is a protein-coding gene located on chromosome 7q31.31. The encoded protein contains a cadherin-like domain and a PC-esterase domain, suggesting roles in cell adhesion and lipid metabolism. CPED1 has been associated with bone mineral density and may modulate Wnt signaling. Expression is enriched in bone, brain, and reproductive tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoporosis | CPED1 variants are associated with reduced bone mineral density, potentially through altered Wnt/β-catenin signaling. | GWAS (PMID: 22504420, 30595370) |
| Bone mineral density variation | Regulatory variants in CPED1 influence bone mass and fracture risk. | GWAS (PMID: 30595370) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | 12.5 | Medium |
| Brain | 8.3 | Low |
| Testis | 15.2 | Medium |
| Ovary | 10.1 | Medium |
| Lung | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 9.8 | Retinal pigment epithelial cells |
| MCF7 | 6.2 | Breast cancer cell line |
| HepG2 | 3.1 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs10263111 | SNV | 0.35 (G allele) | Intronic; associated with bone mineral density in GWAS |
| rs7812088 | SNV | 0.28 (A allele) | Intergenic; linked to osteoporosis risk |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in CPED1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • hydrolase activity (GO:0016787) |
| • plasma membrane (GO:0005886) | • homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156) |
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
Protein Summary
The CPED1 protein (UniProt Q5T8A9) is a 1,009-amino-acid transmembrane protein with an N-terminal cadherin-like domain and a C-terminal PC-esterase domain. It is predicted to localize to the plasma membrane and may participate in cell adhesion and lipid processing. Expression data suggest a role in bone metabolism and reproductive function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPED1 Knockout HEK293 Cell Line | EDJ-KQ12988 | Human | 79974 | Details Get a Quote |
| CPED1 Knockout HCT 116 Cell Line | EDJ-KQ42227 | Human | 79974 | Details Get a Quote |
| CPED1 Knockout HeLa Cell Line | EDJ-KQ42228 | Human | 79974 | Details Get a Quote |
| CPED1 Knockout A-549 Cell Line | EDJ-KQ65779 | Human | 79974 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
