LAMP2

Chr X

lysosome associated membrane protein 2

Also known as: CD107b, DND, LAMP-2, LAMPB, LGP-96, LGP110

NCBI Gene: 3920ENSG00000005893UniProt: P13473

The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDanon disease

Clinical highlights

Gene-disease validity (ClinGen)
Danon disease · XLDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
3
Active trials
222
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.64
LOEUF
LOF
Mechanism· G2P
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GeneReview available — LAMP2
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.64LOEUF
pLI 0.267
Z-score 2.42
OE 0.25 (0.11–0.64)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.84Z-score
OE missense 0.80 (0.69–0.94)
116 obs / 144.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.25 (0.11–0.64)
0≤0.351.4
Missense OE?0.80 (0.69–0.94)
0≤0.61.4
Synonymous OE?0.81
0≤1.21.6
LoF obs/exp: 3 / 12.1Missense obs/exp: 116 / 144.4Syn Z: 1.06

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LAMP2 · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients