CST9L Gene: Structure, Function, and Clinical Relevance
A comprehensive overview of the CST9L gene, including its genomic context, expression patterns, and potential implications in disease.
Gene Information Card
| Symbol | CST9L |
|---|---|
| Full Name | cystatin 9-like |
| Gene Type | protein-coding |
| Chromosomal Location | 20p11.21 |
| NCBI Gene ID | 128821 ncbi.nlm.nih.gov/gene/128821 |
| Ensembl ID | ENSG00000125872 |
| UniProt ID | Q5W186 |
| OMIM ID | 616581 |
| HGNC ID | 30573 |
| Aliases | CST9L, cystatin 9-like, dJ96A1.2 |
Description
CST9L (cystatin 9-like) is a protein-coding gene located on chromosome 20p11.21. It belongs to the cystatin superfamily, which encodes cysteine protease inhibitors. The protein is predicted to be secreted and may play a role in regulating proteolytic activity in various tissues. While its exact function is not fully characterized, expression data suggest potential involvement in immune response and reproductive biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Potential dysregulation of CST9L expression may affect tumor microenvironment via protease inhibition, but specific mechanisms are not well-defined. | Limited evidence from expression studies; no direct disease association confirmed in major databases. |
| Infectious diseases | Cystatins can modulate immune responses; CST9L may influence pathogen defense, but no direct evidence. | Inferred from family function; no specific studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected |
| Thyroid | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Prostate | 0.0 | Not detected |
| Skin | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | No expression detected |
| K562 | 0.0 | No expression detected |
| MCF7 | 0.0 | No expression detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | Not applicable | Not applicable | No disease-associated mutations documented in ClinVar or COSMIC. |
Mutation functional classification
Loss of Function (LOF)
No evidence of loss-of-function mutations causing disease.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type endopeptidase inhibitor activity | • extracellular region |
Pathways
• No specific pathways curated for CST9L in major databases.
Protein Summary
The CST9L protein is a putative secreted cysteine protease inhibitor, belonging to the cystatin family. It contains a signal peptide and a cystatin domain. Its expression is extremely low or absent in normal tissues, and its physiological role remains largely unknown. Structural predictions suggest it may inhibit papain-like cysteine proteases, but functional validation is lacking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CST9L Knockout HEK293 Cell Line | EDJ-KQ9198 | Human | 128821 | Details Get a Quote |
| CST9L Knockout HeLa Cell Line | EDJ-KQ58249 | Human | 128821 | Details Get a Quote |
| CST9L Knockout A-549 Cell Line | EDJ-KQ66737 | Human | 128821 | Details Get a Quote |
| CST9L Knockout HCT 116 Cell Line | EDJ-KQ75148 | Human | 128821 | Details Get a Quote |
