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 kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). One type of mutation responsible for EPM1 is the expansion in the promoter region of this gene of a CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies. [provided by RefSeq, Jul 2016].

cystatin BMIM:601145Ensembl:ENSG00000160213HGNC:HGNC:2482PA2698421q22.3

GO terms in CSTB

Term TypeEvidence TypeGO Term IDGO Des.
MFIPIGO:0002020protease binding
MFHDAGO:0003723RNA binding
MFTASGO:0004866endopeptidase inhibitor activity
MFIBAGO:0004869cysteine-type endopeptidase inhibitor activity
MFIDAGO:0004869cysteine-type endopeptidase inhibitor activity
CCTASGO:0005576extracellular region
CCHDAGO:0005615extracellular space
CCIDAGO:0005615extracellular space
CCTASGO:0034774secretory granule lumen
CCHDAGO:0070062extracellular exosome
CCTASGO:1904724tertiary granule lumen
CCTASGO:1904813ficolin-1-rich granule lumen
BPIEAGO:0008344adult locomotory behavior
BPIDAGO:0010466negative regulation of peptidase activity
BPIEAGO:0010951negative regulation of endopeptidase activity
BPTASGO:0043312neutrophil degranulation
BPIDAGO:0045861negative regulation of proteolysis

Gene expression in normal tissue: CSTB

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in CSTB

DatabasePathway IDPathway Des.
reactomeR-HSA-168249Innate Immune System
reactomeR-HSA-168256Immune System
reactomeR-HSA-6798695Neutrophil degranulation

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CSTB