LRP2BP
LRP2 Binding Protein
Gene Information Card
| Symbol | LRP2BP |
|---|---|
| Full Name | LRP2 binding protein |
| Gene Type | protein-coding |
| Chromosomal Location | 4q35.1 |
| NCBI Gene ID | 55805 ncbi.nlm.nih.gov/gene/55805 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q9P2M1 |
| OMIM ID | 617507 |
| HGNC ID | 28955 |
| Aliases | MEGF10, FLJ10305 |
Description
LRP2BP (LRP2 binding protein) is a protein-coding gene located on chromosome 4q35.1. The encoded protein interacts with the cytoplasmic tail of LRP2 (megalin), a multiligand endocytic receptor, and may play a role in receptor-mediated endocytosis and intracellular trafficking. LRP2BP is expressed in various tissues, with highest levels in kidney and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Donnai-Barrow syndrome | LRP2BP variants may disrupt LRP2-mediated endocytosis, leading to developmental defects | Limited evidence from case reports; not yet confirmed in large cohorts |
| Focal segmental glomerulosclerosis | Altered LRP2BP expression may affect podocyte function | Observed in kidney expression studies; direct causal link not established |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 15.2 | Medium |
| Brain | 8.7 | Low |
| Liver | 3.1 | Low |
| Heart | 2.5 | Low |
| Lung | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | Moderate expression |
| HeLa | 6.8 | Low expression |
| HepG2 | 4.2 | Low expression |
| SH-SY5Y | 9.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown functional impact |
| c.567delG (p.Gly190Valfs*3) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • endocytosis |
| • intracellular protein transport | • plasma membrane |
Pathways
• Megalin-mediated endocytosis
• Clathrin-mediated endocytosis
Protein Summary
The LRP2BP protein is a 637-amino acid cytoplasmic protein that binds to the intracellular domain of LRP2. It contains a coiled-coil domain and is involved in endocytic trafficking. Expression is highest in kidney and brain, suggesting a role in renal and neural function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRP2BP Knockout HEK293 Cell Line | EDJ-KQ3580 | Human | 55805 | Details Get a Quote |
| LRP2BP Knockout HCT 116 Cell Line | EDJ-KQ25469 | Human | 55805 | Details Get a Quote |
| LRP2BP Knockout HeLa Cell Line | EDJ-KQ25470 | Human | 55805 | Details Get a Quote |
| LRP2BP Knockout A-549 Cell Line | EDJ-KQ65140 | Human | 55805 | Details Get a Quote |
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