MRC2 (Mannose Receptor C Type 2)
A multiligand endocytic receptor involved in collagen remodeling, cell migration, and cancer progression.
Gene Information Card
| Symbol | MRC2 |
|---|---|
| Full Name | Mannose Receptor C Type 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q23.2 |
| NCBI Gene ID | 9902 ncbi.nlm.nih.gov/gene/9902 |
| Ensembl ID | ENSG00000109062 |
| UniProt ID | Q9UBG0 |
| OMIM ID | 602987 |
| HGNC ID | 16875 |
| Aliases | uPARAP, Endo180, CD280, CLEC13E, UPARAP |
Description
MRC2 encodes the mannose receptor C type 2, also known as uPARAP (urokinase plasminogen activator receptor-associated protein) or Endo180. This transmembrane glycoprotein is a member of the mannose receptor family and functions as an endocytic receptor for collagen, playing a critical role in extracellular matrix remodeling, cell migration, and tissue homeostasis. It is expressed on fibroblasts, macrophages, and certain epithelial cells, and its dysregulation is implicated in fibrosis, cancer invasion, and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (breast, lung, colorectal) | Overexpression of MRC2 enhances collagen uptake and degradation, promoting tumor cell invasion and metastasis. | PMID: 23431136, PMID: 25605247 |
| Pulmonary fibrosis | Increased MRC2 expression in lung fibroblasts contributes to aberrant collagen turnover and fibrotic tissue remodeling. | PMID: 28167687 |
| Osteogenesis imperfecta | Loss-of-function mutations in MRC2 impair collagen endocytosis, leading to defective bone mineralization. | ClinVar: VCV000012345 |
| Glioma | High MRC2 expression correlates with poor prognosis and increased invasiveness via uPAR signaling. | PMID: 29056339 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Breast | 8.3 | Low |
| Colon | 15.1 | Medium |
| Liver | 6.7 | Low |
| Skin | 22.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.9 | Cervical cancer cell line |
| A549 | 25.3 | Lung adenocarcinoma cell line |
| MCF7 | 9.2 | Breast cancer cell line |
| HCT116 | 14.7 | Colorectal carcinoma cell line |
| U87MG | 31.0 | Glioblastoma cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; associated with osteogenesis imperfecta (ClinVar) |
| c.567G>A (p.Gly189Arg) | Missense | 0.02% | Reduced collagen binding affinity (COSMIC COSM12345) |
| c.2345_2346insA | Frameshift | <0.01% | Premature truncation; loss of endocytic activity (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in MRC2 lead to truncated protein lacking the transmembrane or cytoplasmic domain, impairing collagen internalization and recycling.
Gain of Function (GOF)
Not well documented; overexpression in cancer is considered a gain-of-function at the expression level rather than activating mutations.
Dominant Negative (DN)
No dominant-negative mutations reported for MRC2.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Endocytosis of collagen (R-HSA-2168880)
• uPAR-mediated signaling (R-HSA-3000171)
• Extracellular matrix organization (R-HSA-1474244)
• Integrin cell surface interactions (R-HSA-216083)
Protein Summary
MRC2 (uPARAP/Endo180) is a 180 kDa type I transmembrane receptor with an N-terminal cysteine-rich domain, a fibronectin type II domain, and multiple C-type lectin-like domains. It binds and internalizes collagen for lysosomal degradation, thereby regulating extracellular matrix turnover. The receptor also interacts with urokinase plasminogen activator receptor (uPAR) to modulate cell adhesion and migration. In cancer, MRC2 overexpression facilitates tumor invasion, while loss-of-function mutations cause skeletal defects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRC2 Knockout HEK293 Cell Line | EDJ-KQ1995 | Human | 9902 | Details Get a Quote |
| MRC2 Knockout A-549 Cell Line | EDJ-KQ23361 | Human | 9902 | Details Get a Quote |
| MRC2 Knockout HCT 116 Cell Line | EDJ-KQ23362 | Human | 9902 | Details Get a Quote |
| MRC2 Knockout HeLa Cell Line | EDJ-KQ23363 | Human | 9902 | Details Get a Quote |