CD68
Chr 17CD68 molecule
Also known as: GP110, LAMP4, SCARD1
This gene encodes a transmembrane glycoprotein that functions as a scavenger receptor on macrophages, mediating phagocytosis, lysosomal metabolism, and macrophage homing to specific tissues through binding to lectins and selectins. The gene is not highly constrained against loss-of-function variants and has not been established as a cause of Mendelian disease. CD68 serves primarily as a macrophage marker in clinical and research settings.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
111 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 19 | 0 | 19 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 60 | 9 | 0 | 69 |
Likely Benign | 0 | 2 | 1 | 3 | 6 |
Benign | 0 | 2 | 0 | 2 | 4 |
| Total | 0 | 64 | 30 | 5 | 99 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CD68 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Airway Remodeling and Rhinovirus in Asthmatics
RECRUITINGSpatiotemporal Single-cell Atlas of Peri-implant Soft Tissue Healing
NOT YET RECRUITINGA Study of Adipose Tissue in Adaptive Responses to Exercise
ACTIVE NOT RECRUITINGPredicting Response In Cervical Intraepithelial Neoplasia to Topical Imiquimod Treatment
RECRUITINGHematopoietic Stem Cell Transplantation Gene Therapy for Treatment of Severe Hemophilia A
NOT YET RECRUITINGDapagliflozin on Renal Morphology and Renal Perfusion in Patients One Year After Kidney Transplantation
RECRUITINGIMAT Quality in Aging
NOT YET RECRUITINGA Study of ILB2109 and Toripalimab in Patients With Advanced Solid Malignancies
RECRUITINGPrediction of Malignant Transformation of Oral Leukoplakia Using a MAGE-A-based Immunoscore
RECRUITINGPembrolizumab Plus CA-4948 for the Treatment of Patients With Progressive Metastatic Urothelial Cancer Despite Prior Immunotherapy
RECRUITINGExternal Resources
Links to major genomics databases and tools