LAMP3

Chr 3

lysosome associated membrane protein 3

Also known as: CD208, DC LAMP, DC-LAMP, DCLAMP, LAMP, LAMP-3, TSC403

This gene encodes lysosome-associated membrane glycoprotein 3, a type 1 integral membrane protein that belongs to a family of lysosome associated membrane proteins which form part of the glycoconjugate coat present on the inside of the lysosomal membrane. It is predominantly expressed in mature dendritic cells and serves as a marker of dendritic cell maturation. The encoded protein localizes primarily to late endosomes/lysosomes and the MHC class II compartment, where it contributes to antigen processing and presentation during adaptive immune responses. The expression of this gene is inducible under hypoxic conditions via hypoxia-inducible factor 1-alpha signaling. In cancer, this gene is frequently overexpressed and is associated with tumor progression, metastasis, therapy resistance, and poor clinical prognosis in multiple malignancies including breast, cervical, and ovarian cancers. [provided by RefSeq, Feb 2026]

OMIMResearchGenerating clinical summary…
DNmechanismLOEUF 0.96
Clinical SummaryLAMP3
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.96LOEUF
pLI 0.000
Z-score 1.68
OE 0.53 (0.310.96)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.28Z-score
OE missense 0.95 (0.851.06)
221 obs / 233.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.53 (0.310.96)
00.351.4
Missense OE?0.95 (0.851.06)
00.61.4
Synonymous OE?0.89
01.21.6
LoF obs/exp: 8 / 15.0Missense obs/exp: 221 / 233.2Syn Z: 0.85

This gene — mechanism propensity

DN
0.6938th %ile
GOF
0.5856th %ile
LOF
0.2679th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

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

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

LAMP3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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