CD14
Chr 5CD14 molecule
The protein encoded by this gene is a surface antigen that is preferentially expressed on monocytes/macrophages. It cooperates with other proteins to mediate the innate immune response to bacterial lipopolysaccharide, and to viruses. This gene has been identified as a target candidate in the treatment of SARS-CoV-2-infected patients to potentially lessen or inhibit a severe inflammatory response. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2020]
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
72 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 | 12 | 0 | 12 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 48 | 5 | 0 | 53 |
Likely Benign | 0 | 4 | 1 | 0 | 5 |
Benign | 0 | 1 | 0 | 1 | 2 |
| Total | 0 | 53 | 18 | 1 | 72 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CD14 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
The Microbial Impact on Intestinal Fibrosis and the Associated Immune Microenvironment in Crohn's Disease
NOT YET RECRUITINGChimeric Antigen Receptor T Cell Therapy Redirected to CD4 (CD4CAR)as a Second Line Treatment for Chronic Myelomonocytic Leukemia, CMML.
RECRUITINGEffect of Inulin on Gut Microbiota and Gut Barrier in Chronic Kidney Disease
RECRUITINGModeling Macrophages Activation Pattern in X-linked Adrenoleukodystrophy, Metachromatic Leukodystrophy and Adult Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia
RECRUITINGNext-gen Flow Cytometry to Find Immune Profiles, Treatment Response, and Toxicity Markers in Skin Cancer Patients Treated With Cemiplimab.
RECRUITINGDairy Lipids and Cardiometabolic Risk
RECRUITINGLong-term, Substantial Weight Loss and Insulin Regulation of Lipolysis
RECRUITINGStem Cell Transplant From Donors After Alpha Beta Cell Depletion in Children and Adults With T-allo10 Cells Addback
RECRUITINGEarly Life Malnutrition, Environmental Enteric Dysfunction and Microbiome Trajectories
RECRUITINGEarly Rebiopsy to Identify Biomarkers of Tumor Cell Survival Following EGFR, ALK, ROS1 or BRAF TKI Therapy
RECRUITINGCOVID-19 Transmission and Morbidity in Malawi
RECRUITINGRole of Adrenomedullin in Leukemic Endosteal/Vascular Niches
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools