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Gene

LRP5

LDL receptor related protein 5

Summary

Cytogenetic location
11q13.2
Coordinates
Chromosome 11: 68,312,591–68,449,275 (GRCh38)
Exons
23 exons across 136.7 kb
Protein
1,615 amino acids
Inheritance
Autosomal dominant
Also known as
LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4
Previous symbols
LRP7, OPPG, EVR1
MANE Select transcript
ENST00000294304.12NM_002335.4
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

  • Osteogenesis Imperfecta

    • A group of inherited connective tissue disorders causing fragile bones that break easily, often with blue sclerae, hearing loss and dental problems.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Cyclic IV bisphosphonates (pamidronate, zoledronate); orthopedic rodding of long bones; physical therapy; denosumab (in clinical use for pediatric OI); romosozumab (in development); hearing monitoring; dental management for dentinogenesis imperfecta

  • Osteopetrosis

    • Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.

      • 1 GenCC submitter rates it definitive or strong

  • Polycystic Liver Disease (1 and 2)

    • Polycystic Liver Disease 4Autosomal dominant

      A dominantly inherited condition caused by LRP5 variants, with multiple liver cysts and sometimes kidney cysts.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing can prompt liver and kidney imaging when symptoms arise.

  • Sclerosing Bone Dysplasias (High Bone Mass)

    • Autosomal dominant osteosclerosis, Worth typeAutosomal dominant

      A high bone mass condition caused by LRP5 variants, usually with few symptoms apart from a prominent jaw and bony growths in the mouth.

      • 2 GenCC submitters rate it definitive or strong

  • Vitreoretinopathy

    • Vitreoretinal Degeneration
      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How LRP5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where LRP5 sits. LRP5 and 12 genes near it on chromosome 11, from 67,880,933 to 68,880,932.Chromosome 1111q13.2p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2568 Mb68.2 Mb68.4 Mb68.6 Mb68.8 MbUNC93B1: 67,991,100–68,004,982, reverse strandUNC93B1ALDH3B1: 68,008,543–68,029,282, forward strandALDH3B1NDUFS8: 68,030,617–68,036,649, forward strandNDUFS8TCIRG1: 68,038,977–68,050,899, forward strandTCIRG1CHKA: 68,052,848–68,121,449, reverse strandCHKAKMT5B: 68,154,863–68,214,134, reverse strandKMT5BC11orf24: 68,261,335–68,272,001, reverse strandC11orf24LRP5: 68,312,591–68,449,275, forward strandLRP5PPP6R3: 68,460,475–68,615,343, forward strandPPP6R3GAL: 68,683,020–68,691,205, forward strandGALTESMIN: 68,705,313–68,751,569, reverse strandTESMINCPT1A: 68,754,620–68,844,410, reverse strandCPT1AMRPL21: 68,862,382–68,903,841, reverse strandMRPL21Diagram of LRP5: 23 exons on the forward strand of chromosome 11Exon 1: 1 known disease-causing siteExon 2: 5 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 6: 17 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 9: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 11: 3 known disease-causing sitesExon 12: 6 known disease-causing sitesExon 14: 3 known disease-causing sitesExon 16: 2 known disease-causing sitesExon 17: 2 known disease-causing sitesExon 18: 4 known disease-causing sitesExon 19: 2 known disease-causing sitesExon 20: 2 known disease-causing sitesExon 21: 2 known disease-causing sitesExon 1: 68,312,591–68,312,805, 215 basesExon 2: 68,347,847–68,348,243, 397 basesExon 3: 68,357,650–68,357,847, 198 basesExon 4: 68,363,747–68,363,943, 197 basesExon 5: 68,365,571–68,365,702, 132 basesExon 6: 68,386,316–68,386,712, 397 basesExon 7: 68,389,881–68,390,052, 172 basesExon 8: 68,403,483–68,403,699, 217 basesExon 9: 68,406,524–68,406,813, 290 basesExon 10: 68,409,914–68,410,140, 227 basesExon 11: 68,411,436–68,411,620, 185 basesExon 12: 68,413,689–68,414,012, 324 basesExon 13: 68,416,328–68,416,527, 200 basesExon 14: 68,423,489–68,423,697, 209 basesExon 15: 68,425,102–68,425,292, 191 basesExon 16: 68,425,978–68,426,187, 210 basesExon 17: 68,429,575–68,429,700, 126 basesExon 18: 68,433,602–68,433,838, 237 basesExon 19: 68,436,889–68,436,999, 111 basesExon 20: 68,438,446–68,438,682, 237 basesExon 21: 68,439,777–68,439,916, 140 basesExon 22: 68,446,436–68,446,533, 98 basesExon 23: 68,448,809–68,449,275, 467 bases15101520235′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 5.2 kb of the gene's 136.7 kb; 4,848 of those bases code for the protein.

How a genome test reads LRP5

67

positions in LRP5 where ClinVar classes a change as pathogenic or likely pathogenic

30 of them (45%) fall in regions short reads find hard.

  • Segmental duplications (30 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 136.7 kb of LRP5, introns included, not only the 5.2 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.). LRP5 gene: LDL receptor related protein 5. Retrieved 17 October 2026, from https://dantelabs.com/genes/lrp5

Vancouver

Dante Labs. LRP5 gene: LDL receptor related protein 5 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/lrp5

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