HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
27 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LRP5
LDL receptor related protein 5
Chromosome 11 Β· 11q13.2
NCBI Gene: 4041Ensembl: ENSG00000162337.13HGNC: HGNC:6697UniProt: O75197
324PubMed Papers
29Diseases
0Drugs
216Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneReceptor
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
bone morphogenesisadipose tissue developmentregulation of blood pressureretinal blood vessel morphogenesisFamilial exudative vitreoretinopathyosteoporosis-pseudoglioma syndromeautosomal dominant osteosclerosis, Worth typepolycystic liver disease 4 with or without kidney cysts
✦AI Summary

LRP5 (LDL receptor related protein 5) is a transmembrane coreceptor that plays critical roles in Wnt signaling pathway activation and bone metabolism. LRP5 functions as a coreceptor with frizzled receptors to transduce canonical Wnt signals, promoting Ξ²-catenin stabilization and TCF/LEF-mediated transcription 1. The protein is essential for bone homeostasis, where it regulates osteoblast function and bone mineral density. Mutations in LRP5 are associated with diverse skeletal disorders, including osteoporosis-pseudoglioma syndrome in compound heterozygous patients, who exhibit severe bone loss and vitreoretinal abnormalities 2. Common polymorphisms, particularly rs3736228 C>T, increase susceptibility to osteoporosis and fractures across multiple populations 3. LRP5 variants also affect cortical bone architecture, with certain polymorphisms associated with reduced cortical bone area and thickness in women 4. Beyond skeletal functions, LRP5 contributes to retinal vascular development through norrin signaling and is implicated in familial exudative vitreoretinopathy 5. Recent studies reveal LRP5's role in metabolic regulation, with increased placental expression in gestational diabetes 6, and its interaction with SELENOP in colorectal cancer progression through Wnt pathway modulation 7. These findings establish LRP5 as a multifunctional coreceptor critical for skeletal, ocular, and metabolic health.

Sources cited
1
LRP5 functions as a coreceptor in Wnt signaling pathway activation through Ξ²-catenin stabilization
PMID: 35710882
2
Compound heterozygous LRP5 mutations cause osteoporosis-pseudoglioma syndrome with severe bone and eye abnormalities
PMID: 40794150
3
Common LRP5 polymorphism rs3736228 C>T increases risk of osteoporosis and fractures
PMID: 25580429
4
LRP5 polymorphisms affect cortical bone architecture parameters in women
PMID: 21116122
5
LRP5 mutations are associated with familial exudative vitreoretinopathy
PMID: 34860240
6
LRP5 expression is increased in placenta during gestational diabetes mellitus
PMID: 36947076
7
LRP5 interacts with SELENOP to modulate Wnt signaling in colorectal cancer progression
PMID: 37166989
Disease Associationsβ“˜29
Familial exudative vitreoretinopathyOpen Targets
0.85Strong
osteoporosis-pseudoglioma syndromeOpen Targets
0.84Strong
autosomal dominant osteosclerosis, Worth typeOpen Targets
0.81Strong
polycystic liver disease 4 with or without kidney cystsOpen Targets
0.78Strong
osteoporosisOpen Targets
0.78Strong
Autosomal dominant osteopetrosis type 1Open Targets
0.75Strong
Osteoporosis - pseudogliomaOpen Targets
0.73Strong
hyperostosis corticalis generalisataOpen Targets
0.69Moderate
autosomal dominant osteopetrosis 1Open Targets
0.68Moderate
exudative vitreoretinopathy 4Open Targets
0.65Moderate
Albers-SchΓΆnberg osteopetrosisOpen Targets
0.56Moderate
Retinal dystrophyOpen Targets
0.54Moderate
X-linked osteoporosis with fracturesOpen Targets
0.53Moderate
genetic disorderOpen Targets
0.53Moderate
osteosclerosisOpen Targets
0.51Moderate
osteogenesis imperfectaOpen Targets
0.50Moderate
exudative vitreoretinopathyOpen Targets
0.47Moderate
postmenopausal osteoporosisOpen Targets
0.47Moderate
eye diseaseOpen Targets
0.46Moderate
skeletal dysplasiaOpen Targets
0.46Moderate
Endosteal hyperostosis, Worth typeUniProt
High bone mass traitUniProt
Osteopetrosis, autosomal dominant 1UniProt
OsteoporosisUniProt
Osteoporosis-pseudoglioma syndromeUniProt
Polycystic liver disease 4 with or without kidney cystsUniProt
Van Buchem disease 2UniProt
Vitreoretinopathy, exudative 1UniProt
Vitreoretinopathy, exudative 4UniProt
Pathogenic Variants216
NM_002335.4(LRP5):c.2717_2718del (p.Cys906fs)Pathogenic
not provided|Autosomal dominant osteopetrosis 1
β˜…β˜…β˜†β˜†2026β†’ Residue 906
NM_002335.4(LRP5):c.4488+2T>GPathogenic
Exudative vitreoretinopathy 4, autosomal dominant|not provided|Familial exudative vitreoretinopathy|Inborn genetic diseases|Exudative vitreoretinopathy 4|Retinal dystrophy|Osteoporosis with pseudoglioma|Ovarian serous cystadenocarcinoma
β˜…β˜…β˜†β˜†2026
NM_002335.4(LRP5):c.1480C>T (p.Arg494Trp)Likely pathogenic
Osteoporosis with pseudoglioma|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 494
NM_002335.4(LRP5):c.1709G>A (p.Arg570Gln)Pathogenic
Exudative vitreoretinopathy 4, autosomal recessive|Inborn genetic diseases|not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 570
NM_002335.4(LRP5):c.685C>T (p.Arg229Trp)Pathogenic
not provided|6 conditions
β˜…β˜…β˜†β˜†2025β†’ Residue 229
NM_002335.4(LRP5):c.724G>A (p.Ala242Thr)Pathogenic
Autosomal dominant osteopetrosis 1|Worth disease|not provided|LRP5-related disorder|Skeletal dysplasia
β˜…β˜…β˜†β˜†2025β†’ Residue 242
NM_002335.4(LRP5):c.1270G>A (p.Asp424Asn)Pathogenic
not provided|Exudative vitreoretinopathy 4|Retinal dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 424
NM_002335.4(LRP5):c.4189_4192del (p.Leu1397fs)Pathogenic
Retinal dystrophy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1397
NM_002335.4(LRP5):c.442C>T (p.Gln148Ter)Pathogenic
not provided|Osteoporosis with pseudoglioma
β˜…β˜…β˜†β˜†2025β†’ Residue 148
NM_002335.4(LRP5):c.1210G>A (p.Gly404Arg)Likely pathogenic
not provided|6 conditions
β˜…β˜…β˜†β˜†2025β†’ Residue 404
NM_002335.4(LRP5):c.1042C>T (p.Arg348Trp)Likely pathogenic
not provided|Familial exudative vitreoretinopathy
β˜…β˜…β˜†β˜†2025β†’ Residue 348
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln)Pathogenic
Osteoporosis with pseudoglioma|not provided|Exudative vitreoretinopathy 1|LRP5-related disorder|6 conditions
β˜…β˜…β˜†β˜†2025β†’ Residue 494
NM_002335.4(LRP5):c.209_210delinsAA (p.Phe70Ter)Pathogenic
Retinal dystrophy|not provided|6 conditions
β˜…β˜…β˜†β˜†2025β†’ Residue 70
NM_002335.4(LRP5):c.2737dup (p.Cys913fs)Pathogenic
not provided|Exudative vitreoretinopathy 4|Osteoporosis with pseudoglioma|6 conditions
β˜…β˜…β˜†β˜†2025β†’ Residue 913
NM_002335.4(LRP5):c.1058G>A (p.Arg353Gln)Pathogenic
Osteoporosis with pseudoglioma|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 353
NM_002335.4(LRP5):c.2718_2721del (p.Met907fs)Pathogenic
Inborn genetic diseases|not provided|Retinal dystrophy|Exudative vitreoretinopathy 4
β˜…β˜…β˜†β˜†2025β†’ Residue 907
NM_002335.4(LRP5):c.640G>A (p.Ala214Thr)Pathogenic
Worth disease|Autosomal dominant osteopetrosis 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 214
NM_002335.4(LRP5):c.512G>T (p.Gly171Val)Pathogenic
High bone mass|not provided|Disorder of bone
β˜…β˜…β˜†β˜†2025β†’ Residue 171
NM_002335.4(LRP5):c.935del (p.Leu312fs)Pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 312
NM_002335.4(LRP5):c.1378G>A (p.Glu460Lys)Likely pathogenic
not provided|6 conditions
β˜…β˜…β˜†β˜†2025β†’ Residue 460
View on ClinVar β†—
Related Genes
FRZBProtein interaction100%PTK7Protein interaction100%NDPProtein interaction100%TSPAN12Protein interaction99%WNT1Protein interaction98%KREMEN1Protein interaction98%
Tissue Expression6 tissues
Liver
100%
Heart
38%
Ovary
35%
Lung
25%
Brain
8%
Bone Marrow
8%
Gene Interaction Network
Click a node to explore
LRP5FRZBPTK7NDPTSPAN12WNT1KREMEN1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O75197
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.48Moderately Constrained
pLIβ“˜
0.94Intolerant
Observed/Expected LoF0.39 [0.32–0.48]
RankingsWhere LRP5 stands among ~20K protein-coding genes
  • #1,017of 20,598
    Most Researched324 Β· top 5%
  • #305of 5,498
    Most Pathogenic Variants216 Β· top 10%
  • #2,821of 17,882
    Most Constrained (LOEUF)0.48 Β· top quartile
Genes detectedLRP5
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.
PMID: 34860240
Invest Ophthalmol Vis Sci Β· 2021
1.00
2
Human Placental LRP5 and Sclerostin are Increased in Gestational Diabetes Mellitus Pregnancies.
PMID: 36947076
J Clin Endocrinol Metab Β· 2023
0.90
3
LRP5, SLC6A3, and SOX10 Expression in Conventional Ameloblastoma.
PMID: 37628576
Genes (Basel) Β· 2023
0.84
4
Clinical, Biochemical and Radiological Features of LRP5 Gene Variants in Children.
PMID: 40794150
Calcif Tissue Int Β· 2025
0.80
5
LRP5-/6 gene polymorphisms and its association with risk of abnormal bone mass in postmenopausal women.
PMID: 37202775
J Orthop Surg Res Β· 2023
0.70