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FLASH GENE

Symbol

CSTB

contributors: mct - updated : 10-09-2010

HGNC name	cystatin B (stefin B)
HGNC id	2482

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000100 3 - 674 NP_000091 11.1 98 - Werle, Skerget (2010) variant 2 - - 249 isoform 2 9 83 ubiquitous Joensuu (2007) retention of the entire intron 2

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive esophagus       highly   pharynx       highly Endocrine parathyroid       highly Nervous brain       highly Reproductive male system prostate

cells

System Cell Pubmed Species Stage Rna symbol Nervous astrocyte Nervous oligodendrocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two intramolecular disulfide bonds
	a cystatin domain

mono polymer

homomer , dimer

HOMOLOGY

interspecies

homolog to murine Cstb

Homologene

FAMILY

cystatin type 1 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleolus
text	interaction between cystatin B and nucleosomes, specifically with histones H2A.Z, H2B, and H3 (Ceru 2010)

basic FUNCTION	cysteine proteinase inhibitor playing a role in protecting against the proteases leaking from lysosomes
	anti-protease, that aggregates within cells, aggregation increasing upon protein overexpression or proteasome inhibition (Ceru 2010)
	could play an important role in regulating the proteolytic activity of cathepsin L in the nucleus, protecting substrates such as transcription factors from its proteolytic processing (Ceru 2010)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	tightly binding and inhibitor of cathepsins H, L, B
	APP/Abeta-binding protein in vitro and likely in cells (Skerget 2010)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EPM1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in lung tumors

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	may be useful as a novel predictive biomarker in transitional cell carcinoma of the bladder (Feldman 2009)
Therapy target

ANIMAL & CELL MODELS

mice lacking cystatin B develop myoclonic seizures and ataxia