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
380132052024LRP4 mutations, dental anomalies, and oral exostoses.0
380652852024LRP4-related signalling pathways and their regulatory role in neurological diseases.0
381015652024LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17.0
380132052024LRP4 mutations, dental anomalies, and oral exostoses.0
380652852024LRP4-related signalling pathways and their regulatory role in neurological diseases.0
381015652024LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17.0
373567212023The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction.1
375638902023A variant in the LDL receptor-related protein encoding gene LRP4 underlying polydactyly and phalangeal synostosis in a family of Pakistani origin.0
373567212023The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction.1
375638902023A variant in the LDL receptor-related protein encoding gene LRP4 underlying polydactyly and phalangeal synostosis in a family of Pakistani origin.0
335767662022The VWF/LRP4/αVβ3-axis represents a novel pathway regulating proliferation of human vascular smooth muscle cells.11
348578852022Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome.4
352932862022Knockdown of long noncoding RNA HUMT inhibits the proliferation and metastasis by regulating miR-455-5p/LRP4 axis in hepatocellular carcinoma.0
353623242022Correlation between BTG3, CASP9 and LRP4 single-nucleotide polymorphisms and susceptibility to papillary thyroid carcinoma.1
335767662022The VWF/LRP4/αVβ3-axis represents a novel pathway regulating proliferation of human vascular smooth muscle cells.11

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-(ldl-receptor-related-protein-4)