LANCL3 Gene - Lanthionine Synthetase C-Like 3
Comprehensive genomic and functional overview of LANCL3
Gene Information Card
| Symbol | LANCL3 |
|---|---|
| Full Name | Lanthionine synthetase C-like 3 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.11 |
| NCBI Gene ID | 100506658 ncbi.nlm.nih.gov/gene/100506658 |
| Ensembl ID | ENSG00000204054 |
| UniProt ID | A6NKD2 |
| OMIM ID | 300987 |
| HGNC ID | 37243 |
| Aliases | C6orf209, dJ283E3.4, LANCL3 |
Description
LANCL3 (lanthionine synthetase C-like 3) is a protein-coding gene located on chromosome Xp22.11. It belongs to the LanC-like protein family, which is involved in lanthionine biosynthesis and may play roles in cellular signaling and stress response. The gene is expressed in various tissues and is associated with certain cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may contribute to tumorigenesis | COSMIC database reports somatic mutations in various cancers |
| Developmental delay | Potential role in neurodevelopment | ClinVar lists variants of uncertain significance in patients with intellectual disability |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | Moderate expression |
| HeLa | 9.7 | Low expression |
| K562 | 4.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347G>A (p.Arg116Gln) | Missense | <0.01% | Unknown significance |
| c.502C>T (p.Arg168Trp) | Missense | <0.01% | Unknown significance |
| c.784_785insA | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift insertions likely lead to truncated protein and 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)
| • catalytic activity (GO:0003824) | • cytoplasm (GO:0005737) |
| • membrane (GO:0016020) | • metal ion binding (GO:0046872) |
Pathways
• Lanthionine biosynthesis (predicted)
• Cellular response to stress (inferred)
Protein Summary
The LANCL3 protein (UniProt A6NKD2) is a 418-amino acid membrane-associated protein with a LanC-like domain. It is predicted to bind metal ions and catalyze lanthionine formation. The protein is localized to the cytoplasm and membrane, and may participate in stress response pathways. Its exact biological function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LANCL3 Knockout HEK293 Cell Line | EDJ-KQ13270 | Human | 347404 | Details Get a Quote |
| LANCL3 Knockout HCT 116 Cell Line | EDJ-KQ43932 | Human | 347404 | Details Get a Quote |
| LANCL3 Knockout HeLa Cell Line | EDJ-KQ43933 | Human | 347404 | Details Get a Quote |
| LANCL3 Knockout A-549 Cell Line | EDJ-KQ68280 | Human | 347404 | Details Get a Quote |
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