LRP12: Low-Density Lipoprotein Receptor-Related Protein 12
A member of the LDL receptor family involved in cell signaling and endocytosis, with implications in cancer and developmental disorders.
Gene Information Card
| Symbol | LRP12 |
|---|---|
| Full Name | Low density lipoprotein receptor-related protein 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q22.3 |
| NCBI Gene ID | 29967 ncbi.nlm.nih.gov/gene/29967 |
| Ensembl ID | ENSG00000147650 |
| UniProt ID | Q9Y561 |
| OMIM ID | 607747 |
| HGNC ID | 6698 |
| Aliases | ST7, LRP9, MEGF7, FLJ12986 |
Description
LRP12 (low-density lipoprotein receptor-related protein 12) encodes a member of the low-density lipoprotein (LDL) receptor family. The protein is involved in receptor-mediated endocytosis and cell signaling pathways, including Wnt signaling. It is expressed in various tissues and has been implicated in cancer progression and developmental disorders. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered LRP12 expression may affect cell proliferation and migration via Wnt/β-catenin signaling | PMID: 23455478, COSMIC |
| Developmental disorders | Mutations in LRP12 may disrupt endocytosis and signaling during embryogenesis | ClinVar, OMIM #607747 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 15.2 | Medium |
| Lung | 10.8 | Medium |
| Placenta | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.7 | High expression |
| HeLa | 9.2 | Moderate expression |
| HepG2 | 5.4 | Low expression |
| A549 | 11.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; predicted protein truncation |
| c.567G>A (p.Val189Met) | Missense | <0.01% | Unknown; likely benign |
| c.2345_2346insA | Frameshift | <0.05% | Loss of function; frameshift and premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*, c.2345_2346insA) are predicted to cause loss of function by truncating the protein or inducing nonsense-mediated decay.
Gain of Function (GOF)
No gain-of-function mutations have been reported for LRP12 in curated databases.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for LRP12.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• LDL receptor-mediated endocytosis (Reactome: R-HSA-8866423)
Protein Summary
LRP12 is a transmembrane protein of the LDL receptor family, characterized by ligand-binding repeats, EGF-like domains, and a cytoplasmic tail with NPxY motifs. It localizes to the plasma membrane and early endosomes, mediating endocytosis of ligands and modulating Wnt signaling. The protein is expressed in multiple tissues, with highest levels in placenta and kidney. Mutations and altered expression are associated with cancer and developmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRP12 Knockout HEK293 Cell Line | EDJ-KQ9115 | Human | 29967 | Details Get a Quote |
| LRP12 Knockout A-549 Cell Line | EDJ-KQ35626 | Human | 29967 | Details Get a Quote |
| LRP12 Knockout HCT 116 Cell Line | EDJ-KQ35627 | Human | 29967 | Details Get a Quote |
| LRP12 Knockout HeLa Cell Line | EDJ-KQ35628 | Human | 29967 | Details Get a Quote |
