LRP4

Chr 11p11.2

LDL receptor related protein 4

Aliases:: MEGF7, CLSS, LRP-4, SOST2
MANE:: ENST00000378623.6

OMIM: 604270 ↗NCBI: 4038 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

LRP4 · O75096

v62025-08-01

Predicted Aligned Error matrix for LRP4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.1/ 100

Confident

1,905 residues

Confidence breakdown

Very high(≥ 90)33%
Confident(70–90)42%
Low(50–70)11%
Very low(< 50)14%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

CAKUT
BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Limb disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Osteogenesis imperfecta

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Disease associations (Open Targets)

Cenani-Lenz syndactyly syndrome
0.82
sclerosteosis 2
0.74
Cenani-Lenz syndrome
0.72
congenital myasthenic syndrome 17
0.56
Congenital myasthenic syndromes
0.56
sclerosteosis
0.47
venous thromboembolism
0.38
postsynaptic congenital myasthenic syndrome
0.38
Postsynaptic congenital myasthenic syndromes
0.38
polydactyly
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Low-density lipoprotein receptor-related protein 4

Mediates SOST-dependent inhibition of bone formation. Functions as a specific facilitator of SOST-mediated inhibition of Wnt signaling. Plays a key role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between motor neuron and skeletal muscle. Directly binds AGRIN and recruits it to the MUSK signaling complex. Mediates the AGRIN-induced phosphorylation of MUSK, the kinase of the complex. The activation of MUSK in myotubes induces the formation of NMJ by regulating different processes including the transcription of specific genes and the clustering of AChR in the postsynaptic membrane. Alternatively, may be involved in the negative regulation of the canonical Wnt signaling pathway, being able to antagonize the LRP6-mediated activation of this pathway. More generally, has been proposed to function as a cell surface endocytic receptor binding and internalizing extracellular ligands for degradation by lysosomes. May play an essential role in the process of digit differentiation (By similarity)