LRRC58: Leucine-Rich Repeat Containing 58
A gene encoding a leucine-rich repeat protein with potential roles in cellular signaling and cancer.
Gene Information Card
| Symbol | LRRC58 |
|---|---|
| Full Name | Leucine Rich Repeat Containing 58 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q13.33 |
| NCBI Gene ID | 116064 ncbi.nlm.nih.gov/gene/116064 |
| Ensembl ID | ENSG00000163823 |
| UniProt ID | Q96JM4 |
| OMIM ID | 617870 |
| HGNC ID | 28673 |
| Aliases | MGC13170, bA350O14.1 |
Description
LRRC58 (Leucine Rich Repeat Containing 58) is a protein-coding gene located on chromosome 3q13.33. The encoded protein contains leucine-rich repeats (LRRs), which are typically involved in protein-protein interactions and signal transduction. LRRC58 is expressed in various tissues and has been implicated in cancer biology, though its precise functions remain under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression may influence tumor progression | COSMIC; NCBI Gene |
| Lung cancer | Mutations and expression changes observed | COSMIC |
| Colorectal cancer | Potential role in cell proliferation | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 10.2 | Medium |
| Prostate | 8.9 | Low |
| Lung | 7.1 | Low |
| Breast | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 12.3 | Medium expression |
| A549 | 9.8 | Low expression |
| MCF7 | 8.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Pro34Leu) | Missense | <0.01% | Unknown |
| c.205G>A (p.Gly69Ser) | Missense | <0.01% | Unknown |
| c.412_413insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.412_413insA) 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 | • leucine-rich repeat domain binding |
| • signal transduction |
Pathways
• PI3K-Akt signaling pathway
• Pathways in cancer
Protein Summary
The LRRC58 protein (UniProt Q96JM4) contains leucine-rich repeats (LRRs) that mediate protein-protein interactions. It is predicted to be involved in signal transduction and may play a role in cell proliferation and cancer. Subcellular localization is not fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRRC58 Knockout HEK293 Cell Line | EDJ-KQ2557 | Human | 116064 | Details Get a Quote |
| LRRC58 Knockout A-549 Cell Line | EDJ-KQ24597 | Human | 116064 | Details Get a Quote |
| LRRC58 Knockout HCT 116 Cell Line | EDJ-KQ24598 | Human | 116064 | Details Get a Quote |
| LRRC58 Knockout HeLa Cell Line | EDJ-KQ24599 | Human | 116064 | Details Get a Quote |
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