LRP4 (LDL receptor related protein 4)

2019-04-01  

Identity

HGNC
LOCATION
11p11.2
LOCUSID
ALIAS
CLSS,CMS17,LRP-4,LRP10,MEGF7,SOST2
FUSION GENES

Other Information

Locus ID:

NCBI: 4038
MIM: 604270
HGNC: 6696
Ensembl: ENSG00000134569

Variants:

dbSNP: 4038
ClinVar: 4038
TCGA: ENSG00000134569
COSMIC: LRP4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134569ENST00000378623O75096
ENSG00000134569ENST00000534404E9PNJ5

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
ECM proteoglycansREACTOMER-HSA-3000178

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
190792622009New sequence variants associated with bone mineral density.123
214712022011Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function.76
227942642012Distinct roles of muscle and motoneuron LRP4 in neuromuscular junction formation.57
203810062010LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.52
242978912013MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4.50
219693642011Agrin binds to the N-terminal region of Lrp4 protein and stimulates association between Lrp4 and the first immunoglobulin-like domain in muscle-specific kinase (MuSK).49
245302332014Diagnostic and clinical classification of autoimmune myasthenia gravis.45
253196862014LRP4 is critical for neuromuscular junction maintenance.36
242447072013MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters.35
242346522014LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.26

Citation

Dessen P

LRP4 (LDL receptor related protein 4)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57973/lrp4