LRRC17: Leucine-Rich Repeat Containing 17
A secreted protein implicated in osteoclastogenesis, bone metabolism, and cancer progression.
Gene Information Card
| Symbol | LRRC17 |
|---|---|
| Full Name | Leucine Rich Repeat Containing 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 10234 ncbi.nlm.nih.gov/gene/10234 |
| Ensembl ID | ENSG00000128656 |
| UniProt ID | Q8N6Y2 |
| OMIM ID | 613586 |
| HGNC ID | 16997 |
| Aliases | P37NB, UNQ3030, MGC129609 |
Description
LRRC17 encodes a secreted protein containing leucine-rich repeats. It is involved in osteoclast differentiation and bone resorption, and has been associated with cancer cell proliferation and metastasis. The protein may function as a modulator of RANKL signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoporosis | LRRC17 promotes osteoclastogenesis via RANKL pathway modulation. | PMID: 19139201 |
| Breast cancer | Overexpression correlates with bone metastasis and poor prognosis. | PMID: 23542345 |
| Gastric cancer | Upregulation associated with tumor invasion and lymph node metastasis. | PMID: 25873156 |
| Osteosarcoma | LRRC17 expression linked to tumor growth and migration. | PMID: 27562873 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 8.3 | Low |
| Spleen | 6.7 | Low |
| Lung | 4.2 | Not detected |
| Breast | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | Moderate expression |
| MG63 (osteosarcoma) | 22.8 | High expression |
| K562 (leukemia) | 9.4 | Low expression |
| HEK293 (embryonic kidney) | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T | Missense | <0.1% | p.Arg163Trp; unknown significance |
| c.1024G>A | Missense | <0.1% | p.Gly342Ser; unknown significance |
| c.1345_1346insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift insertions likely cause premature truncation and loss of secreted protein function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not established.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RANKL/RANK signaling pathway (in osteoclastogenesis)
• NF-kappaB signaling pathway
• MAPK signaling pathway
Protein Summary
LRRC17 is a 37 kDa secreted protein with leucine-rich repeats. It is expressed in bone marrow and lymphoid tissues, and plays a role in osteoclast differentiation. In cancer, it may promote metastasis, particularly to bone. The protein interacts with RANKL and modulates downstream signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRRC17 Knockout HEK293 Cell Line | EDJ-KQ6335 | Human | 10234 | Details Get a Quote |
| LRRC17 Knockout HeLa Cell Line | EDJ-KQ55352 | Human | 10234 | Details Get a Quote |
| LRRC17 Knockout A-549 Cell Line | EDJ-KQ63833 | Human | 10234 | Details Get a Quote |
| LRRC17 Knockout HCT 116 Cell Line | EDJ-KQ72294 | Human | 10234 | Details Get a Quote |
