LOXL2: Lysyl Oxidase Like 2
A key enzyme in extracellular matrix remodeling, fibrosis, and cancer progression
Gene Information Card
| Symbol | LOXL2 |
|---|---|
| Full Name | Lysyl Oxidase Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p21.3 |
| NCBI Gene ID | 4017 ncbi.nlm.nih.gov/gene/4017 |
| Ensembl ID | ENSG00000134013 |
| UniProt ID | Q9Y4K0 |
| OMIM ID | 606663 |
| HGNC ID | 6666 |
| Aliases | LYSYL OXIDASE-LIKE 2, LOR2, LOR-2, LOXL |
Description
LOXL2 encodes a member of the lysyl oxidase family of copper-dependent amine oxidases. The enzyme catalyzes the oxidative deamination of lysine and hydroxylysine residues in collagen and elastin, initiating cross-linking essential for extracellular matrix stability. LOXL2 is involved in developmental processes, tissue repair, and fibrosis, and its overexpression is linked to tumor progression, metastasis, and poor prognosis in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (breast, lung, colorectal, gastric, hepatocellular) | Overexpression promotes EMT, invasion, and metastasis via collagen cross-linking and integrin signaling | PMID: 23431171, PMID: 27149846 |
| Pulmonary fibrosis | Increased LOXL2 activity drives aberrant collagen deposition and fibrotic remodeling | PMID: 28011865 |
| Liver fibrosis | LOXL2 upregulation in hepatic stellate cells contributes to extracellular matrix accumulation | PMID: 26965626 |
| Cardiovascular fibrosis | LOXL2-mediated elastin and collagen cross-linking contributes to arterial stiffness | PMID: 29127259 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.3 | Medium |
| Heart | 8.7 | Medium |
| Liver | 6.5 | Low |
| Kidney | 9.1 | Medium |
| Breast | 7.8 | Medium |
| Colon | 10.2 | Medium |
| Skin | 14.5 | High |
| Placenta | 11.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.2 | High expression |
| MCF7 (breast carcinoma) | 9.8 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 7.3 | Low expression |
| HT-29 (colorectal adenocarcinoma) | 11.5 | Moderate expression |
| BJ (fibroblast) | 18.0 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.1% | Unknown functional effect |
| c.567_568insA | Frameshift | <0.1% | Predicted loss of function |
| c.890C>T (p.Thr297Met) | Missense | <0.1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein and abolish catalytic activity.
Gain of Function (GOF)
Not well characterized; overexpression in tumors suggests potential gain-of-function via increased cross-linking.
Dominant Negative (DN)
No dominant negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005507 – copper ion binding | • GO:0004720 – protein-lysine 6-oxidase activity |
| • GO:0005576 – extracellular region | • GO:0005615 – extracellular space |
| • GO:0030198 – extracellular matrix organization | • GO:0048146 – positive regulation of fibroblast proliferation |
| • GO:0010632 – regulation of epithelial cell migration |
Pathways
• ECM-receptor interaction (KEGG hsa04512)
• Focal adhesion (KEGG hsa04510)
• Lysyl oxidase pathway (Reactome R-HSA-2022090)
• Collagen formation (Reactome R-HSA-1474290)
Protein Summary
LOXL2 is a 774-amino acid secreted protein containing a copper-binding domain, a lysyl tyrosylquinone cofactor, and a scavenger receptor cysteine-rich domain. It oxidizes lysine residues in collagen and elastin, forming cross-links that stabilize the extracellular matrix. The protein is highly expressed in fibroblasts and certain epithelial cells, and its dysregulation is implicated in fibrosis and cancer metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LOXL2 Knockout HEK293 Cell Line | EDJ-KQ17787 | Human | 4017 | Details Get a Quote |
| LOXL2 Knockout HCT 116 Cell Line | EDJ-KQ18544 | Human | 4017 | Details Get a Quote |
| LOXL2 Knockout A-549 Cell Line | EDJ-KQ19870 | Human | 4017 | Details Get a Quote |
| LOXL2 Knockout HeLa Cell Line | EDJ-KQ19871 | Human | 4017 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
