GENE REFERENCE / HGNC:6697

LRP5

LDL receptor related protein 5

protein-coding gene11q13.2Gene information

What does this gene do?

The LRP5 gene provides instructions for making a protein that is embedded in the outer membrane of many types of cells. This protein is known as a co-receptor because it works with another receptor protein, frizzled-4 (produced from the FZD4 gene), to transmit chemical signals from outside the cell to the cell's nucleus. Frizzled-4 and the LRP5 protein participate in the Wnt signaling pathway, a series of steps that affect the way cells and tissues develop. Wnt signaling is important for cell division (proliferation), attachment of cells to one another (adhesion), cell movement (migration), and many other cellular activities.

The LRP5 protein plays an important role in the development and maintenance of several tissues. During early development, it helps guide the specialization of cells in the retina, which is the light-sensitive tissue that lines the back of the eye. The LRP5 protein is also involved in forming blood vessels in the retina and in the inner ear. Additionally, this protein helps regulate bone mineral density, which is a measure of the amount of calcium and other minerals in bones. The minerals give the bones strength, making them less likely to break.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-09-26. Source review: 2024-02.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
LRP5-related exudative vitreoretinopathyMONDO:0700228 · Evaluated 2023-03-02	Autosomal recessive	DefinitiveRetina Gene Curation Expert Panel
polycystic liver disease 4 with or without kidney cystsMONDO:0044327 · Evaluated 2023-11-13	Autosomal dominant	LimitedKidney Cystic and Ciliopathy Disorders Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 2,640
Submissions for variants in or overlapping this gene: 5,068
Submissions explicitly reporting this gene: 4,941
Alleles reported pathogenic / likely pathogenic: 229
VariationIDs with uncertain significance: 1,232
VariationIDs with conflicting classifications: 159

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about LRP5?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 229 alleles in LRP5 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in LRP5.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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