CST3


Summary: The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. In addition, this protein has been shown to have an antimicrobial function, inhibiting the replication of herpes simplex virus. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Nov 2014].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:604312
PHARMGKB IDPA26976
Map Location20p11.21

GO terms in CST3


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Term Type
Evidence Type
GO Term ID
GO Des.
MF IPI GO:0001540 amyloid-beta binding
MF IPI GO:0002020 protease binding
MF IDA GO:0004866 endopeptidase inhibitor activity
MF IDA GO:0004869 cysteine-type endopeptidase inhibitor activity
MF IPI GO:0005515 protein binding
MF IPI GO:0042802 identical protein binding
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Gene expression in normal tissue: CST3

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in CST3


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Database
Pathway ID
Pathway Des.
reactome R-HSA-168249 Innate Immune System
reactome R-HSA-168256 Immune System
reactome R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
reactome R-HSA-392499 Metabolism of proteins
reactome R-HSA-597592 Post-translational protein modification
reactome R-HSA-6798695 Neutrophil degranulation
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD353 PD0325901 2
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CST3

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
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