CD93: A C-Type Lectin Domain Family Member with Roles in Cell Adhesion and Immune Regulation
Comprehensive genomic and proteomic overview of CD93, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | CD93 |
|---|---|
| Full Name | CD93 molecule |
| Gene Type | protein-coding |
| Chromosomal Location | 20p11.21 |
| NCBI Gene ID | 22918 ncbi.nlm.nih.gov/gene/22918 |
| Ensembl ID | ENSG00000125826 |
| UniProt ID | Q9NPY3 |
| OMIM ID | 606043 |
| HGNC ID | 1690 |
| Aliases | C1qRP, C1qR(P), C1qRp, dJ737E23.1, MXRA4 |
Description
CD93 encodes a transmembrane glycoprotein belonging to the C-type lectin domain family. The protein functions as a receptor for C1q, mannose-binding lectin, and other ligands, playing roles in cell adhesion, phagocytosis, angiogenesis, and immune regulation. It is expressed on endothelial cells, monocytes, and hematopoietic stem cells, and is implicated in inflammation, vascular development, and tumor biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | CD93 overexpression promotes tumor angiogenesis and immune evasion; altered expression correlates with poor prognosis. | Multiple studies in COSMIC and literature (e.g., PMID: 25605274, 30348676) |
| Inflammatory disorders | CD93 mediates leukocyte adhesion and migration; dysregulation linked to chronic inflammation. | Functional studies (e.g., PMID: 12421930, 19124732) |
| Cardiovascular disease | CD93 involved in endothelial cell function and vascular remodeling; associated with atherosclerosis. | Association studies (e.g., PMID: 21536682) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 24.5 | High |
| Spleen | 20.1 | High |
| Bone marrow | 18.7 | High |
| Heart | 12.3 | Medium |
| Liver | 8.9 | Medium |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 35.2 | High expression; used in angiogenesis studies |
| THP-1 (monocyte) | 28.6 | High expression; role in phagocytosis |
| HeLa (cervical) | 12.1 | Moderate expression |
| MCF7 (breast) | 9.8 | Moderate expression |
| A549 (lung) | 15.4 | Moderate-high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124G>A (p.Gly42Arg) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.568C>T (p.Arg190Trp) | Missense | <0.01% | Unknown; reported in ClinVar as uncertain significance |
| c.1021_1023del (p.Leu341del) | In-frame deletion | <0.01% | Unknown; rare in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in CD93; knockout models show impaired phagocytosis and angiogenesis.
Gain of Function (GOF)
Overexpression of wild-type CD93 in tumors is associated with enhanced angiogenesis and metastasis; no activating mutations described.
Dominant Negative (DN)
No dominant-negative mutations reported for CD93.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Complement cascade (C1q-mediated)
• Angiogenesis (VEGF-independent)
• Cell adhesion and migration
Protein Summary
CD93 is a 652-amino-acid type I transmembrane protein with an N-terminal C-type lectin-like domain, a mucin-like stalk, a transmembrane region, and a short cytoplasmic tail. It is heavily glycosylated and localizes to the plasma membrane. The protein binds C1q and other ligands, mediating phagocytosis in myeloid cells and promoting endothelial cell adhesion, migration, and tube formation. CD93 is a key regulator of vascular integrity and immune surveillance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD93 Knockout HEK293 Cell Line | EDJ-KQ1973 | Human | 22918 | Details Get a Quote |
| CD93 Knockout HeLa Cell Line | EDJ-KQ55657 | Human | 22918 | Details Get a Quote |
| CD93 Knockout A-549 Cell Line | EDJ-KQ64156 | Human | 22918 | Details Get a Quote |
| CD93 Knockout HCT 116 Cell Line | EDJ-KQ72602 | Human | 22918 | Details Get a Quote |
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