Hs06336296_cn

• Gene Symbol: LRP5
• Assay Reference Genome Location: Chr.11:68301574 on build GRCh38
• Cytoband: 11q13.2

Target Gene Details

• Entrez Gene ID: 4041
• Gene Name: LDL receptor related protein 5
• Gene Aliases: BMND1, EVR1, EVR4, HBM, LR3, LRP-5, LRP7, OPPG, OPS, OPTA1, VBCH2
• Location: Chr.11:68298866-68449275 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LRP5	XM_011545029.1			XP_011543331.1
	XM_011545030.1			XP_011543332.1
	XM_011545031.1			XP_011543333.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv22055	Chr.11:68300373 - 68301582 on Build GRCh38	Loss	LRP5
nsv825963	Chr.11:67996205 - 68429586 on Build GRCh38	Gain	C11orf24 LRP5 MIR4691 UNC93B1 MIR7113 KMT5B CHKA ALDH3B1 MIR6753 NDUFS8 TCIRG1
esv3626736	Chr.11:68299773 - 68301695 on Build GRCh38	Loss	LRP5

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

transmembrane signal receptor

Gene Ontology Categories:

Process(es)

gastrulation with mouth forming second
positive regulation of mesenchymal cell proliferation
osteoblast development
glucose catabolic process
endocytosis
cholesterol metabolic process
regulation of blood pressure
positive regulation of cell proliferation
anterior/posterior pattern specification
Wnt signaling pathway
positive regulation of osteoblast proliferation
somatic stem cell population maintenance
extracellular matrix-cell signaling
cell migration involved in gastrulation
cholesterol homeostasis
embryonic digit morphogenesis
regulation of apoptotic process
Wnt signaling pathway involved in dorsal/ventral axis specification
positive regulation of fat cell differentiation
negative regulation of osteoblast differentiation
positive regulation of mitotic nuclear division
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
bone remodeling
regulation of bone remodeling
bone marrow development
positive regulation of sequence-specific DNA binding transcription factor activity
anatomical structure regression
retina morphogenesis in camera-type eye
canonical Wnt signaling pathway
bone morphogenesis
branching involved in mammary gland duct morphogenesis
adipose tissue development
cell-cell signaling involved in mammary gland development
regulation of canonical Wnt signaling pathway
regulation of insulin secretion involved in cellular response to glucose stimulus
retinal blood vessel morphogenesis
negative regulation of protein serine/threonine kinase activity
apoptotic process involved in patterning of blood vessels
beta-catenin destruction complex disassembly

Function(s)

protein binding
Wnt-protein binding
toxin transporter activity
Wnt-activated receptor activity
coreceptor activity involved in Wnt signaling pathway
coreceptor activity involved in canonical Wnt signaling pathway