CD248

Chr 11

CD248 molecule

Also known as: CD164L1, TEM1

NCBI Gene: 57124ENSG00000174807UniProt: Q9HCU0

Predicted to enable extracellular matrix binding activity and extracellular matrix protein binding activity. Predicted to be involved in cell migration. Predicted to act upstream of or within several processes, including fibroblast migration; lymph node development; and positive regulation of endothelial cell apoptotic process. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]

140
ClinVar variants
11
Pathogenic / LP
0.06
pLI score
0
Active trials
Clinical Summary— CD248
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.29) despite low pLI — interpret in context.
📋
ClinVar Variants
11 Pathogenic / Likely Pathogenic· 108 VUS of 140 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
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.
0.57LOEUF
pLI 0.059
Z-score 2.98
OE 0.29 (0.16–0.57)
Moderately constrained

More LoF-intolerant than ~75% of genes

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.
1.21Z-score
OE missense 0.84 (0.77–0.92)
388 obs / 461.4 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.0.29 (0.16–0.57)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.84 (0.77–0.92)
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.0.96
0≤1.21.6
LoF obs/exp: 6 / 20.6Missense obs/exp: 388 / 461.4Syn Z: 0.46

ClinVar Variant Classifications

140 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic9
Likely Pathogenic2
VUS108
Likely Benign10
Benign11
9
Pathogenic
2
Likely Pathogenic
108
VUS
10
Likely Benign
11
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
9
0
9
Likely Pathogenic
0
0
2
0
2
VUS
0
102
6
0
108
Likely Benign
0
9
0
1
10
Benign
0
1
0
10
11
Total01121711140

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CD248 · 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
CD248 ANTIGEN; CD248
MIM #606064 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Targeting the activated microenvironment with endosialin (CD248)-directed CAR-T cells ablates perivascular cells to impair tumor growth and metastasis.
Ash SL et al.·J Immunother Cancer
2024
Fibroblast expression of CD248 may contribute to exacerbation of microvascular damage during systemic sclerosis.
Cipriani P et al.·Rheumatology (Oxford)
2023
CD248 interacts with ECM to promote hypertrophic scar formation and development.
Zhang L et al.·Gene
2024
Placental and plasma early predictive biomarkers for gestational diabetes mellitus.
Wei Y et al.·Proteomics Clin Appl
2022
CD248 and its cytoplasmic domain: a therapeutic target for arthritis.
Maia M et al.·Arthritis Rheum
2010
Lipid infiltration promotes trans-differentiation of vascular smooth muscle cells into macrophage-like cells in early lesions of human coronary atherosclerosis.
Hao J et al.·Lipids Health Dis
2025
Targeting tumor vasculature: expanding the potential of DNA cancer vaccines.
Ugel S et al.·Cancer Immunol Immunother
2015Review
CD248/endosialin critically regulates hepatic stellate cell proliferation during chronic liver injury via a PDGF-regulated mechanism.
Wilhelm A et al.·Gut
2016Functional
Fibroblast activation and inflammation in frozen shoulder.
Akbar M et al.·PLoS One
2019
A bioinformatics-driven approach to identify biomarkers and elucidate the pathogenesis of type 2 diabetes concurrent with pulmonary tuberculosis.
Liu Y et al.·Sci Rep
2025
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools