CD248

Chr 11

CD248 molecule

Also known as: CD164L1, TEM1

NCBI Gene: 57124 ENSG00000174807 UniProt: Q9HCU0 OMIM: 606064

CD248 encodes a cell surface glycoprotein that binds extracellular matrix proteins and regulates angiogenesis, immune responses, coagulation, and tissue remodeling through interactions with multiple signaling pathways including PDGF receptor and insulin receptor. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.575), but no established Mendelian disease associations have been reported to date. Clinical significance of CD248 variants in pediatric neurogenetic conditions remains to be determined.

OMIM ResearchSummary from RefSeq, UniProt

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 anatomical structure regression; lymph node development; and positive regulation of endothelial cell apoptotic process. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.57

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

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?

1.21Z-score

OE missense 0.84 (0.77–0.92)

388 obs / 461.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.29 (0.16–0.57)

0≤0.351.4

Missense OE?0.84 (0.77–0.92)

0≤0.61.4

Synonymous OE?0.96

0≤1.21.6

LoF obs/exp: 6 / 20.6Missense obs/exp: 388 / 461.4Syn Z: 0.46

Background carrier burden — how many people carry a rare variant somewhere in CD248?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 46

974 rare PASS variants

Rare truncating (LoF)

1 in 3,800

71 rare PASS variants

Rare synonymous (reference)

1 in 88

443 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CD248. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 86	1 in 5,300
South Asian	~43k	1 in 52	1 in 7,000
Remaining (unassigned)	~30k	1 in 50	≈ 1 in 7,400
European (Finnish)	~27k	1 in 120	1 in 1,400
Admixed American	~22k	1 in 54	1 in 1,300
African / African American	~21k	1 in 51	1 in 2,900
East Asian	~20k	1 in 70	≈ 1 in 9,400
Ashkenazi Jewish	~13k	1 in 140	none seen
Middle Eastern	~2,884	1 in 55	≈ 1 in 2,500

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓