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Gene

LAMP2

lysosome associated membrane protein 2

Summary

Cytogenetic location
Xq24
Coordinates
Chromosome X: 120,426,148–120,469,296 (GRCh38)
Exons
9 exons across 43.1 kb
Protein
410 amino acids
Inheritance
X-linked dominant
Also known as
CD107b
MANE Select transcript
ENST00000200639.9NM_002294.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Danon Disease

    • X-linked dominant

      Hypertrophic cardiomyopathy, heart rhythm problems including Wolff-Parkinson-White pattern, muscle weakness, intellectual disability and retinal changes; affected males usually develop severe heart disease in adolescence or early adulthood, and females later.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Close cardiac surveillance, defibrillator implantation and early heart transplant evaluation are often needed, and family members can be tested.

Broader groupings

  • Lysosomal Storage Disease

    • Lysosomal storage disease (other and unspecified types)

      One of 59 genes linked to it

      Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong

Inheritance

X-linked dominant
The change is on the X chromosome, and one copy is enough. A mother who has it passes it on to each child with a one-in-two chance; a father, to all of his daughters and none of his sons.

How LAMP2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where LAMP2 sits. LAMP2 and 16 genes near it on chromosome X, from 119,947,722 to 120,947,721.Chromosome XXq24p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q28120 Mb120.2 Mb120.4 Mb120.6 Mb120.8 MbRHOXF1P3: 119,942,834–119,992,838, forward strandRHOXF1P3RHOXF2B: 120,072,264–120,077,748, reverse strandRHOXF2BRHOXF1: 120,109,049–120,245,290, reverse strandRHOXF1RHOXF2: 120,158,536–120,165,630, forward strandRHOXF2ZBTB33: 120,250,712–120,259,741, forward strandZBTB33TMEM255A: 120,258,650–120,311,556, reverse strandTMEM255AATP1B4: 120,362,085–120,383,249, forward strandATP1B4LAMP2: 120,426,148–120,469,296, reverse strandLAMP2CUL4B: 120,505,920–120,604,074, reverse strandCUL4BMCTS1: 120,594,010–120,621,159, forward strandMCTS1C1GALT1C1: 120,614,846–120,630,115, reverse strandC1GALT1C1CT47B1: 120,872,607–120,875,877, reverse strandCT47B1: 120,877,496–120,878,924, reverse strandCT47A12: 120,930,250–120,932,301, reverse strandCT47A12CT47A11: 120,933,840–120,937,158, reverse strandCT47A11CT47A10: 120,938,701–120,942,023, reverse strandCT47A10CT47A9: 120,943,561–120,946,883, reverse strandCT47A9Diagram of LAMP2: 9 exons on the reverse strand of chromosome XExon 8: 12 known disease-causing sitesExon 7: 4 known disease-causing sitesExon 6: 10 known disease-causing sitesExon 5: 12 known disease-causing sitesExon 4: 11 known disease-causing sitesExon 3: 14 known disease-causing sitesExon 2: 13 known disease-causing sitesExon 1: 7 known disease-causing sitesExon 9: 120,426,148–120,431,462, 5,315 basesExon 8: 120,441,730–120,441,894, 165 basesExon 7: 120,442,599–120,442,662, 64 basesExon 6: 120,446,305–120,446,427, 123 basesExon 5: 120,447,841–120,448,025, 185 basesExon 4: 120,448,970–120,449,128, 159 basesExon 3: 120,455,357–120,455,570, 214 basesExon 2: 120,456,651–120,456,769, 119 basesExon 1: 120,469,106–120,469,296, 191 bases9876543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 6.5 kb of the gene's 43.1 kb; 1,233 of those bases code for the protein.

How a genome test reads LAMP2

96

positions in LAMP2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 43.1 kb of LAMP2, introns included, not only the 6.5 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). LAMP2 gene: lysosome associated membrane protein 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/lamp2

Vancouver

Dante Labs. LAMP2 gene: lysosome associated membrane protein 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/lamp2

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