LRP5 Chromosome 11
LDL receptor related protein 5
Upload your DNA to see your personal genotypes for variants in LRP5.
What This Gene Does
This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Gene Info
Gene Group
Low density lipoprotein receptors
Locus Type
gene with protein product
Location
11q13.2
Ensembl
ENSG00000162337
Associated Conditions (40)
Inborn genetic diseases
LRP5-related disorder
6 conditions
Osteoporosis with pseudoglioma
8 conditions
Osteogenesis imperfecta
Exudative vitreoretinopathy 4
autosomal recessive
Microcephaly
Retinal dystrophy
Uterine corpus endometrial carcinoma
Gastric cancer
Acute myeloid leukemia
Lung cancer
Cervical cancer
Polycystic kidney disease
adult type
Autosomal dominant polycystic liver disease
Clear cell carcinoma of kidney
Ovarian serous cystadenocarcinoma
+20 more conditions
Key Variants
RS1029914579
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS113315676
Conflicting classifications of pathogenicity
LRP5-related disorder, LRP5-related disorder
Health Risk
RS113804402
Conflicting classifications of pathogenicity
6 conditions, LRP5-related disorder, 6 conditions
Health Risk
RS1158745675
Conflicting classifications of pathogenicity
Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
Health Risk
RS1177481438
Conflicting classifications of pathogenicity
6 conditions, 6 conditions
Health Risk
RS1197978360
Conflicting classifications of pathogenicity
6 conditions, 6 conditions
Health Risk
RS1215728276
Conflicting classifications of pathogenicity
8 conditions, 8 conditions
Health Risk
RS121908665
Conflicting classifications of pathogenicity
Osteoporosis with pseudoglioma, Osteogenesis imperfecta, Osteoporosis with pseudoglioma
Health Risk
RS121908674
Conflicting classifications of pathogenicity
Exudative vitreoretinopathy 4, autosomal recessive, Exudative vitreoretinopathy 4
Health Risk
RS1251382942
Conflicting classifications of pathogenicity
6 conditions, 6 conditions
Health Risk
RS1273567061
Conflicting classifications of pathogenicity
6 conditions, 6 conditions
Health Risk
RS1284857527
Conflicting classifications of pathogenicity
6 conditions, 6 conditions
Health Risk
All Variants (283)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS765402802 | Health Risk | Pathogenic | Inborn genetic diseases, Retinal dystrophy, Exudative vitreoretinopathy 1 |
| RS769348608 | Health Risk | Pathogenic | — |
| RS770383372 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS771043544 | Health Risk | Pathogenic | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS771082674 | Health Risk | Pathogenic | — |
| RS778930556 | Health Risk | Pathogenic | Exudative vitreoretinopathy 4, Exudative vitreoretinopathy 4 |
| RS779303324 | Health Risk | Pathogenic | — |
| RS80358305 | Health Risk | Pathogenic | Exudative vitreoretinopathy 4, autosomal dominant, Osteoporosis with pseudoglioma |
| RS80358307 | Health Risk | Pathogenic | Exudative vitreoretinopathy 4, autosomal recessive, Exudative vitreoretinopathy 4 |
| RS80358308 | Health Risk | Pathogenic | Exudative vitreoretinopathy 4, digenic, LRP5-related disorder |
| RS80358309 | Health Risk | Pathogenic | — |
| RS80358319 | Health Risk | Pathogenic | Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma |
| RS80358321 | Health Risk | Pathogenic | Exudative vitreoretinopathy 4, autosomal dominant, Exudative vitreoretinopathy 4 |
| RS886043590 | Health Risk | Pathogenic | Exudative vitreoretinopathy 4, Osteoporosis with pseudoglioma, 6 conditions |
| RS1085307078 | Health Risk | Pathogenic/Likely pathogenic | Bone mineral density quantitative trait locus 1, 6 conditions, Bone mineral density quantitative trait locus 1 |
| RS1200833757 | Health Risk | Pathogenic/Likely pathogenic | Osteoporosis, Osteoporosis |
| RS121908664 | Health Risk | Pathogenic/Likely pathogenic | Osteoporosis with pseudoglioma, Exudative vitreoretinopathy 1, LRP5-related disorder |
| RS121908670 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant osteopetrosis 1, Worth disease, LRP5-related disorder |
| RS1311935185 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta, 6 conditions, Osteogenesis imperfecta |
| RS1398692057 | Health Risk | Pathogenic/Likely pathogenic | 9 conditions, Exudative vitreoretinopathy 4, LRP5-related disorder |
| RS1460396716 | Health Risk | Pathogenic/Likely pathogenic | 6 conditions, 6 conditions |
| RS2098614719 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, 6 conditions, Retinal dystrophy |
| RS2098673217 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS2098676296 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2098677212 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2153153067 | Health Risk | Pathogenic/Likely pathogenic | Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma |
| RS2496600373 | Health Risk | Pathogenic/Likely pathogenic | Exudative vitreoretinopathy 4, Osteoporosis with pseudoglioma, Polycystic liver disease 4 with or without kidney cysts |
| RS376152274 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS761131376 | Health Risk | Pathogenic/Likely pathogenic | Exudative vitreoretinopathy 4, Retinal dystrophy, Exudative vitreoretinopathy 4 |
| RS766589610 | Health Risk | Pathogenic/Likely pathogenic | 6 conditions, 6 conditions |
| RS80358312 | Health Risk | Pathogenic/Likely pathogenic | Exudative vitreoretinopathy 4, autosomal recessive, Inborn genetic diseases |
| RS80358322 | Health Risk | Pathogenic/Likely pathogenic | Exudative vitreoretinopathy 4, autosomal dominant, Familial exudative vitreoretinopathy |
| RS936998542 | Health Risk | Pathogenic/Likely pathogenic | 6 conditions, 6 conditions |