PCOLCE2
Procollagen C-Endopeptidase Enhancer 2
Gene Information Card
| Symbol | PCOLCE2 |
|---|---|
| Full Name | Procollagen C-Endopeptidase Enhancer 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q23 |
| NCBI Gene ID | 26577 ncbi.nlm.nih.gov/gene/26577 |
| Ensembl ID | ENSG00000114520 |
| UniProt ID | Q9UKZ9 |
| OMIM ID | 607064 |
| HGNC ID | 8731 |
| Aliases | PCPE2, PCOLCE2, MGC138207 |
Description
PCOLCE2 encodes procollagen C-endopeptidase enhancer 2, a protein that binds to the C-terminal propeptide of type I procollagen and enhances the cleavage by bone morphogenetic protein 1 (BMP1). It is involved in collagen fibril assembly and extracellular matrix organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteogenesis Imperfecta | Impaired collagen processing due to reduced enhancer activity | ClinVar |
| Ehlers-Danlos Syndrome | Altered procollagen cleavage affecting connective tissue integrity | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 9.8 | Medium |
| Liver | 3.2 | Low |
| Lung | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 4.5 | Hepatocellular carcinoma |
| A549 | 3.8 | Lung carcinoma |
| K562 | 1.2 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.856C>T | Missense | 0.01% | p.Arg286Cys; potential loss of function |
| c.1123G>A | Missense | 0.005% | p.Gly375Ser; reduced binding affinity |
Mutation functional classification
Loss of Function (LOF)
Missense variants reducing enhancer activity or binding to procollagen.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • extracellular matrix (GO:0005578) |
| • positive regulation of endopeptidase activity (GO:0010951) |
Pathways
• Collagen biosynthesis and modifying enzymes (Reactome: R-HSA-1650814)
• Extracellular matrix organization (Reactome: R-HSA-1474244)
Protein Summary
PCOLCE2 is a 55 kDa secreted glycoprotein that enhances the activity of BMP1 in cleaving procollagen C-propeptides. It contains a CUB domain and a netrin-like domain, facilitating interaction with collagen and BMP1. Expressed in heart and skeletal muscle, it plays a role in collagen maturation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCOLCE2 Knockout HEK293 Cell Line | EDJ-KQ2655 | Human | 26577 | Details Get a Quote |
| PCOLCE2 Knockout A-549 Cell Line | EDJ-KQ23434 | Human | 26577 | Details Get a Quote |
| PCOLCE2 Knockout HCT 116 Cell Line | EDJ-KQ23435 | Human | 26577 | Details Get a Quote |
| PCOLCE2 Knockout HeLa Cell Line | EDJ-KQ23436 | Human | 26577 | Details Get a Quote |
