CD163 Gene - Macrophage Scavenger Receptor
A comprehensive guide to CD163, a hemoglobin scavenger receptor and macrophage marker, including gene structure, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | CD163 |
|---|---|
| Full Name | CD163 molecule |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 9332 ncbi.nlm.nih.gov/gene/9332 |
| Ensembl ID | ENSG00000177575 |
| UniProt ID | Q86VB7 |
| OMIM ID | 605545 |
| HGNC ID | 1631 |
| Aliases | M130, MM130, SCARI1, Hemoglobin scavenger receptor |
Description
CD163 is a transmembrane glycoprotein belonging to the scavenger receptor cysteine-rich (SRCR) superfamily. It is primarily expressed on the surface of monocytes and macrophages and functions as a scavenger receptor for hemoglobin-haptoglobin complexes, facilitating the clearance of free hemoglobin and modulating inflammatory responses. CD163 also plays roles in anti-inflammatory signaling and tissue repair, and its soluble form (sCD163) is a biomarker for macrophage activation in various diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atherosclerosis | CD163-mediated clearance of hemoglobin-haptoglobin complexes reduces oxidative stress and inflammation in atherosclerotic plaques; altered expression may affect plaque stability. | Multiple studies (e.g., PubMed) show CD163 expression in plaque macrophages and correlation with disease severity. |
| Sepsis | Elevated soluble CD163 (sCD163) reflects macrophage activation and is associated with poor prognosis in sepsis. | Clinical studies demonstrate increased sCD163 levels in septic patients. |
| Rheumatoid Arthritis | CD163+ macrophages are abundant in inflamed synovium; sCD163 levels correlate with disease activity. | Evidence from clinical cohorts and animal models. |
| Cancer | Tumor-associated macrophages (TAMs) express CD163; high expression is linked to poor prognosis in various cancers (e.g., breast, lung, colorectal). | Meta-analyses and immunohistochemical studies. |
| Hemophagocytic Lymphohistiocytosis (HLH) | CD163 is a marker of activated macrophages; sCD163 is elevated in HLH and used as a diagnostic biomarker. | Clinical studies and case reports. |
| Liver Fibrosis | CD163+ macrophages contribute to fibrogenesis; sCD163 levels correlate with fibrosis stage in chronic liver diseases. | Studies in hepatitis and NASH patients. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | High | High |
| Liver | High | High |
| Lung | Medium | Medium |
| Bone Marrow | Medium | Medium |
| Blood | Medium | Medium |
| Brain | Low | Low |
| Kidney | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Monocytes | High | CD163 is highly expressed on circulating monocytes. |
| Macrophages (M2 type) | High | CD163 is a marker for M2 macrophages. |
| Dendritic cells (subsets) | Medium | Some dendritic cell subsets express CD163. |
| Hepatocytes | Low | Minimal expression; mainly in Kupffer cells. |
| T cells | Low | Not typically expressed on T cells. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs7136716 | SNP (intronic) | ~30% (global) | Associated with altered CD163 expression and soluble CD163 levels; may influence inflammatory disease risk. |
| rs61729511 | Missense (p.Arg499Cys) | ~1% | Potential effect on protein structure; clinical significance uncertain. |
| rs1140023 | SNP (5' UTR) | ~20% | May affect gene regulation; linked to soluble CD163 levels in some studies. |
| Somatic mutations in cancer | Various (e.g., missense, frameshift) | Low (<5%) | Rare somatic mutations in CD163 have been reported in some cancers; functional impact unclear. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CD163 are rare and not well characterized. Complete deficiency may impair hemoglobin clearance and exacerbate oxidative stress, but no germline loss-of-function variants have been clinically described.
Gain of Function (GOF)
No gain-of-function mutations have been reported. Overexpression of CD163 is observed in certain conditions (e.g., M2 macrophages in tumors), but this is not due to mutations.
Dominant Negative (DN)
No dominant-negative mutations have been identified for CD163.
View complete mutation data：
Gene Ontology (GO)
| • Scavenger receptor activity | • Haptoglobin binding |
| • Hemoglobin binding | • Protein homodimerization activity |
| • Innate immune response | • Inflammatory response |
| • Endocytosis | • Receptor-mediated endocytosis |
| • Cell surface receptor signaling pathway | • Response to oxidative stress |
Pathways
• Scavenging of heme from plasma
• Innate Immune System
• IL-4 and IL-13 signaling (M2 macrophage polarization)
• CD163-mediated anti-inflammatory response
Protein Summary
CD163 is a 130 kDa type I transmembrane protein with an extracellular region containing nine scavenger receptor cysteine-rich (SRCR) domains. It binds hemoglobin-haptoglobin complexes with high affinity, mediating their endocytosis and degradation, thereby preventing heme-induced oxidative damage. CD163 also acts as a receptor for TWEAK (TNF-like weak inducer of apoptosis) and various bacteria and viruses. Its expression is upregulated by anti-inflammatory cytokines (e.g., IL-10, glucocorticoids) and downregulated by pro-inflammatory stimuli. The soluble form (sCD163) is generated by proteolytic cleavage and serves as a biomarker for macrophage activation in inflammatory and infectious diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD163 Knockout HEK293 Cell Line | EDJ-KQ169 | Human | 9332 | Details Get a Quote |
| CD163L1 Knockout HEK293 Cell Line | EDJ-KQ12826 | Human | 283316 | Details Get a Quote |
| CD163L1 Knockout HeLa Cell Line | EDJ-KQ41967 | Human | 283316 | Details Get a Quote |
| CD163 Knockout A-549 Cell Line | EDJ-KQ26272 | Human | 9332 | Details Get a Quote |
| CD163L1 Knockout HCT 116 Cell Line | EDJ-KQ40719 | Human | 283316 | Details Get a Quote |
| CD163 Knockout HeLa Cell Line | EDJ-KQ55130 | Human | 9332 | Details Get a Quote |
| CD163L1 Knockout A-549 Cell Line | EDJ-KQ67854 | Human | 283316 | Details Get a Quote |
| CD163 Knockout HCT 116 Cell Line | EDJ-KQ72073 | Human | 9332 | Details Get a Quote |
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