CD68

Chr 17

CD68 molecule

NCBI Gene: 968ENSG00000129226UniProt: P34810

Could play a role in phagocytic activities of tissue macrophages, both in intracellular lysosomal metabolism and extracellular cell-cell and cell-pathogen interactions. Binds to tissue- and organ-specific lectins or selectins, allowing homing of macrophage subsets to particular sites. Rapid recirculation of CD68 from endosomes and lysosomes to the plasma membrane may allow macrophages to crawl over selectin-bearing substrates or other cells

96
ClinVar variants
20
Pathogenic / LP
0.00
pLI score
9
Active trials
Clinical Summary— CD68
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
20 Pathogenic / Likely Pathogenic· 66 VUS of 96 total submissions
💊
Clinical Trials
9 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.19LOEUF
pLI 0.000
Z-score 1.01
OE 0.72 (0.45–1.19)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.37Z-score
OE missense 0.93 (0.82–1.05)
187 obs / 201.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.72 (0.45–1.19)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.93 (0.82–1.05)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.09
0≤1.21.6
LoF obs/exp: 11 / 15.3Missense obs/exp: 187 / 201.6Syn Z: -0.63

ClinVar Variant Classifications

96 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic19
Likely Pathogenic1
VUS66
Likely Benign6
Benign4
19
Pathogenic
1
Likely Pathogenic
66
VUS
6
Likely Benign
4
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
19
0
19
Likely Pathogenic
0
0
1
0
1
VUS
0
57
9
0
66
Likely Benign
0
2
1
3
6
Benign
0
2
0
2
4
Total06130596

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.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Ultrasound reduces inflammation by modulating M1/M2 polarization of microglia through STAT1/STAT6/PPARγ signaling pathways.
Hsu CH et al.·CNS Neurosci Ther
2023
Targeting lipophagy in macrophages improves repair in multiple sclerosis.
Haidar M et al.·Autophagy
2022
Cutaneous histiocytoses in children.
Fraitag S et al.·Histopathology
2022Review
Hepatobiliary pathology.
Taylor SL et al.·Curr Opin Gastroenterol
2011Review
Inflammatory macrophages can transdifferentiate into myofibroblasts during renal fibrosis.
Meng XM et al.·Cell Death Dis
2016
Macrophage-Myofibroblast Transition Contributes to Myofibroblast Formation in Proliferative Vitreoretinal Disorders.
Abu El-Asrar AM et al.·Int J Mol Sci
2023
Scalloped cell xanthogranuloma.
Zelger BG et al.·Histopathology
1998
CCL2 expression predicts clinical outcomes and regulates E-cadherin and angiogenesis in pituitary tumours.
Silva AL et al.·Endocr Relat Cancer
2025
Alzheimer's disease clinical variants show distinct neuroinflammatory profiles with neuropathology.
Boon BDC et al.·Neuropathol Appl Neurobiol
2024
3-Dimensional morphological characterization of neuroretinal microglia in Alzheimer's disease via machine learning.
Nassrallah WB et al.·Acta Neuropathol Commun
2024
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Immunohistochemical Profiling of CD68 and VEGF in First-Trimester ‎Miscarriage Placentas.
Shanyoor GJ et al.·Iran J Immunol
2026
Increased Infiltration of CD4+, CD8+, and CD68+ Cells at the Invasive Front Is Associated With Favorable Prognosis in Obstructive Colorectal Cancer: A Retrospective Observational Study.
Takahashi G et al.·Cancer Rep (Hoboken)
2026🔓 Open Access
CD68 Identified as a Regulator of Human Melanocyte Development and Function.
Liu Y et al.·J Invest Dermatol
2026
Agomelatine Alleviates Methotrexate-Induced Lung Injury by Concurrently Inhibiting CD45/CD68-Positive Immune Cell Infiltration and Modulating the BAX/BCL2 Apoptosis Pathway.
Usta Z et al.·J Appl Toxicol
2026
JAK3 Staining and CD68+ Macrophage Counts Are Increased in Patients with IgA Nephropathy.
Luvizotto MJ et al.·Diagnostics (Basel)
2026🔓 Open AccessCohort
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Oral LeukoplakiaOral Leukoplakia of TongueOral Leukoplakia of Gingiva

Prediction of Malignant Transformation of Oral Leukoplakia Using a MAGE-A-based Immunoscore

RECRUITING
NCT03975322University of Erlangen-Nürnberg Medical SchoolStarted 2019-12-01
AsthmaRespiratory Disease

Airway Remodeling and Rhinovirus in Asthmatics

RECRUITING
NCT05775952University of CalgaryStarted 2011-09-01
HRV-39
Metastatic Urothelial CarcinomaUnresectable Urothelial Carcinoma

Pembrolizumab Plus CA-4948 for the Treatment of Patients With Progressive Metastatic Urothelial Cancer Despite Prior Immunotherapy

RECRUITING
NCT06439836Phase PHASE1National Cancer Institute (NCI)Started 2025-05-05
Biopsy ProcedureBiospecimen CollectionComputed Tomography
HealthyObesity

A Study of Adipose Tissue in Adaptive Responses to Exercise

ACTIVE NOT RECRUITING
NCT06053125Phase NAMayo ClinicStarted 2023-11-09
Adipose Tissue BiopsyExercise
Peri-implant Soft Tissue Healing

Spatiotemporal Single-cell Atlas of Peri-implant Soft Tissue Healing

NOT YET RECRUITING
NCT07279090Phase NAStomatological Hospital Affiliated with Fujian Medical UniversityStarted 2025-12-20
Healing Abutment Gingival Healing Post-Implantation
Hemophilia A

Hematopoietic Stem Cell Transplantation Gene Therapy for Treatment of Severe Hemophilia A

NOT YET RECRUITING
NCT04418414Phase PHASE1Expression Therapeutics, LLCStarted 2024-09-01
Gene therapyBiological
Cervical High Grade Squamous Intraepithelial LesionCervical Intraepithelial Neoplasia Grade 2/3CIN 2/3

Predicting Response In Cervical Intraepithelial Neoplasia to Topical Imiquimod Treatment

RECRUITING
NCT05405270Catharina Ziekenhuis EindhovenStarted 2022-06-01
Imiquimod3x vaginal swab for microbiome analysisExpectative management
Head and Neck CancerCervical CancerEndometrial Cancer

A Study of ILB2109 and Toripalimab in Patients With Advanced Solid Malignancies

RECRUITING
NCT05955105Phase PHASE1, PHASE2Innolake BiopharmStarted 2023-07-25
ILB-2109Toripalimab
Chronic Kidney Diseases

Dapagliflozin on Renal Morphology and Renal Perfusion in Patients One Year After Kidney Transplantation

RECRUITING
NCT06560801Phase PHASE4University of Erlangen-Nürnberg Medical SchoolStarted 2023-07-28
Dapagliflozin 10mg Tab

External Resources

Links to major genomics databases and tools