Cstb cystatin B [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cstbprovided by MGI
Official Full Name: cystatin Bprovided by MGI
Primary source: MGI:MGI:109514
See related: Ensembl:ENSMUSG00000005054 AllianceGenome:MGI:109514
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Stfb
Summary: Predicted to enable cysteine-type endopeptidase inhibitor activity and protease binding activity. Acts upstream of or within adult locomotory behavior. Located in collagen-containing extracellular matrix. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Used to study Unverricht-Lundborg syndrome. Human ortholog(s) of this gene implicated in Unverricht-Lundborg syndrome and progressive myoclonus epilepsy 1A. Orthologous to human CSTB (cystatin B). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in placenta adult (RPKM 262.8), bladder adult (RPKM 67.0) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 C1; 10 39.72 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (78261504..78263456)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (78425670..78427622)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cystatin B-deficiency triggers ectopic histone H3 tail cleavage during neurogenesis.
Title: Cystatin B-deficiency triggers ectopic histone H3 tail cleavage during neurogenesis.
The effects of Cstb duplication on APP/amyloid-beta pathology and cathepsin B activity in a mouse model.
Title: The effects of Cstb duplication on APP/amyloid-β pathology and cathepsin B activity in a mouse model.
Cystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy.
Title: Cystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy.
The data of this study show that CXCL13 expression is a hallmark of microglial activation in Cstb (-/-) mice and that the brain inflammation is linked to peripheral inflammatory changes, which might contribute to the disease pathology of progressive myoclonus epilepsy..
Title: Brain inflammation is accompanied by peripheral inflammation in Cstb (-/-) mice, a model for progressive myoclonus epilepsy.
CSTB has a role in chemotaxis, antigen-presentation, and in immune- and defense response-associated processes by altering JAK-STAT pathway signaling
Title: Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb-/- Microglia.
Deletion of the encoding Cstb gene in Npc1-deficient mice resulted in striking deleterious effects, particularly within the cerebellum where diffuse loss of Purkinje cells was observed in young mice. This may be a consequence of damage to lysosomal membranes by reactive oxygen species (ROS), leading to the leakage of lysosomal contents that culminates in apoptosis.
Title: Genetic and pharmacological evidence implicates cathepsins in Niemann-Pick C cerebellar degeneration.
Results suggest a role for CSTB in regulating microglial activation: data link CSTB deficiency to early activation and altered functional properties of microglia, imply presence of both enhanced and suppressed immune response-related microglial functions
Title: Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1.
the LPS-induced sepsis in StB KO mice is dependent on caspase-11 and mitochondrial reactive oxygen species but is not associated with the lysosomal destabilization and increased cathepsin activity in the cytosol
Title: A role for stefin B (cystatin B) in inflammation and endotoxemia.
These results indicate an in vivo role for Stfb in protecting cancer cells by promoting their resistance to oxidative stress and to apoptosis induced through the lysosomal pathway.
Title: Stefin B deficiency reduces tumor growth via sensitization of tumor cells to oxidative stress in a breast cancer model.
Sefin B influences the expression of anti-inflammatory IL-10 in response to TLR4 agonists.
Title: Decreased IL-10 expression in stefin B-deficient macrophages is regulated by the MAP kinase and STAT-3 signaling pathways.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Cstb (e-PCR), detects polymorphism
- UniSTS:259597

U59807 (e-PCR)
- UniSTS:180062

Cstb (e-PCR), detects polymorphism
- UniSTS:141438

Cstb (e-PCR), detects polymorphism
- UniSTS:141439

Cstb (e-PCR), detects polymorphism
- UniSTS:465384

Cstb (e-PCR), detects polymorphism
- UniSTS:259063

AA960480 (e-PCR)
- UniSTS:159998

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cysteine-type endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type endopeptidase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables cysteine-type endopeptidase inhibitor activity	ISO Inferred from Sequence Orthology more info
enables endopeptidase inhibitor activity	ISO Inferred from Sequence Orthology more info
enables protease binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within adult locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in amyloid fibril formation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of peptidase activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of proteolysis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of proteolysis	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: cystatin-B

Names: stefin-B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.