CST9 Gene - Cystatin 9

A member of the cystatin superfamily involved in protease inhibition and potential roles in cancer and immune regulation.

Gene Information Card

Symbol CST9
Full Name Cystatin 9
Gene Type protein-coding
Chromosomal Location 20p11.21
NCBI Gene ID 128822 ncbi.nlm.nih.gov/gene/128822
Ensembl ID ENSG00000101441
UniProt ID Q9H114
OMIM ID 616543
HGNC ID 2475
Aliases CTES9A, cystatin-9, cystatin-like 1

Description

CST9 encodes cystatin 9, a member of the type 2 cystatin superfamily. Cystatins are reversible inhibitors of cysteine proteases, such as cathepsins, and are involved in processes including proteolysis regulation, immune modulation, and tumor suppression. CST9 is expressed in various tissues and has been implicated in cancer progression and inflammatory conditions.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various types) Altered expression may affect protease activity, influencing tumor invasion and metastasis. NCBI Gene, COSMIC
Inflammatory disorders Potential role in modulating immune responses via protease inhibition. UniProt, literature

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Prostate 8.2 Medium
Lung 5.1 Low
Kidney 4.3 Low
Liver 2.0 Low
Cell Line Expression
Cell Line nTPM Notes
HEK293 15.3 Moderate expression
HeLa 10.1 Moderate expression
A549 6.8 Low expression
MCF7 4.5 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.123C>T missense <0.1% Unknown
c.456G>A missense <0.1% 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 evidence for dominant-negative effects.

Pathways

• Cysteine protease inhibition pathway (Reactome: R-HSA-8863720)

Protein Summary

Cystatin 9 is a secreted protein of approximately 16 kDa, belonging to the type 2 cystatin family. It contains a conserved cystatin domain and inhibits cysteine proteases like cathepsins B, L, and S. The protein is implicated in regulating extracellular proteolysis, with potential roles in tumor suppression and immune homeostasis.

Related Products

Product name Cat.No. Species Gene ID
CST9 Knockout HEK293 Cell Line EDJ-KQ9197 Human 128822 Details Get a Quote
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
CST9 Knockout HeLa Cell Line EDJ-KQ58250 Human 128822 Details Get a Quote
CST9L Knockout A-549 Cell Line EDJ-KQ66737 Human 128821 Details Get a Quote
CST9 Knockout A-549 Cell Line EDJ-KQ66738 Human 128822 Details Get a Quote
CST9L Knockout HCT 116 Cell Line EDJ-KQ75148 Human 128821 Details Get a Quote
CST9 Knockout HCT 116 Cell Line EDJ-KQ75149 Human 128822 Details Get a Quote
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