LGSN Gene - Lengsin
A lens-specific gene with potential roles in cataract and cancer
Gene Information Card
| Symbol | LGSN |
|---|---|
| Full Name | Lengsin |
| Gene Type | Protein coding |
| Chromosomal Location | 6q24.1 |
| NCBI Gene ID | 51557 ncbi.nlm.nih.gov/gene/51557 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q8N8R7 |
| OMIM ID | 610281 |
| HGNC ID | 29579 |
| Aliases | GLULD1, LGS, LENG1, LENS1 |
Description
LGSN (lengsin) encodes a lens-specific protein that belongs to the glutamine synthetase family. It is predominantly expressed in the lens and may play a role in lens fiber cell differentiation and maintenance of lens transparency. Mutations and altered expression have been associated with cataract formation and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cataract | Altered LGSN expression may disrupt lens fiber cell structure and transparency, contributing to cataract development. | ClinVar, OMIM |
| Lung cancer | LGSN is overexpressed in some lung cancer cell lines and may be involved in tumorigenesis. | COSMIC, NCBI |
| Breast cancer | LGSN expression changes have been observed in breast cancer tissues, suggesting a potential role in cancer progression. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lens | High | High |
| Retina | Low | Low |
| Testis | Low | Low |
| Brain | Not detected | Not detected |
| Heart | Not detected | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 | 0.0 | Retinal pigment epithelial cell line; no expression |
| HepG2 | 0.0 | Hepatocellular carcinoma cell line; no expression |
| A549 | 0.0 | Lung carcinoma cell line; no expression |
| MCF7 | 0.0 | Breast cancer cell line; no expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Missense | <0.01% | Unknown |
| c.200G>A | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • glutamate-ammonia ligase activity (GO:0004350) | • glutamine biosynthetic process (GO:0006542) |
| • cytoplasm (GO:0005737) | • nucleus (GO:0005634) |
Pathways
• Glutamine metabolism
Protein Summary
Lengsin is a 507-amino acid protein with a molecular weight of approximately 56 kDa. It contains a glutamine synthetase domain but lacks catalytic activity in the lens. The protein is thought to have a structural role in lens fiber cells, contributing to lens transparency and refractive index.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LGSN Knockout HEK293 Cell Line | EDJ-KQ14066 | Human | 51557 | Details Get a Quote |
| LGSN Knockout HeLa Cell Line | EDJ-KQ43973 | Human | 51557 | Details Get a Quote |
| LGSN Knockout A-549 Cell Line | EDJ-KQ26285 | Human | 51557 | Details Get a Quote |
| LGSN Knockout HCT 116 Cell Line | EDJ-KQ73260 | Human | 51557 | Details Get a Quote |
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