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Aliases for CSTB Gene

Aliases for CSTB Gene

  • Cystatin B (Stefin B) 2 3
  • STFB 3 4 6
  • Liver Thiol Proteinase Inhibitor 3 4
  • EPM1A 3 6
  • CPI-B 3 4
  • EPM1 3 6
  • CST6 3 4
  • PME 3 6
  • ULD 3 6
  • Cystatin-B 3
  • Stefin-B 4

External Ids for CSTB Gene

Previous HGNC Symbols for CSTB Gene

  • EPM1
  • STFB

Previous GeneCards Identifiers for CSTB Gene

  • GC21M041703
  • GC21M044050
  • GC21M044018
  • GC21M045192
  • GC21M030562

Summaries for CSTB Gene

Entrez Gene Summary for CSTB Gene

  • 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). [provided by RefSeq, Jul 2008]

GeneCards Summary for CSTB Gene

CSTB (Cystatin B (Stefin B)) is a Protein Coding gene. Diseases associated with CSTB include epilepsy, progressive myoclonic 1a and unverricht-lundborg syndrome. GO annotations related to this gene include protease binding and cysteine-type endopeptidase inhibitor activity. An important paralog of this gene is CSTA.

UniProtKB/Swiss-Prot for CSTB Gene

  • This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B

Gene Wiki entry for CSTB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CSTB Gene

Genomics for CSTB Gene

Regulatory Elements for CSTB Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CSTB Gene

43,772,512 bp from pter
43,776,445 bp from pter
3,934 bases
Minus strand

Genomic View for CSTB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CSTB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSTB Gene

Proteins for CSTB Gene

  • Protein details for CSTB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:

    Protein attributes for CSTB Gene

    98 amino acids
    Molecular mass:
    11140 Da
    Quaternary structure:
    • Able to form dimers stabilized by noncovalent forces

    Three dimensional structures from OCA and Proteopedia for CSTB Gene

neXtProt entry for CSTB Gene

Proteomics data for CSTB Gene at MOPED

Post-translational modifications for CSTB Gene

  • Ubiquitination at Lys39, Lys44, and Lys78
  • Modification sites at PhosphoSitePlus

Other Protein References for CSTB Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CSTB Gene

Domains for CSTB Gene

Gene Families for CSTB Gene

Suggested Antigen Peptide Sequences for CSTB Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cystatin family.
  • Belongs to the cystatin family.
genes like me logo Genes that share domains with CSTB: view

Function for CSTB Gene

Molecular function for CSTB Gene

GENATLAS Biochemistry:
cystatin B,cysteine proteinase inhibitor,type 2 family,widely expressed
UniProtKB/Swiss-Prot Function:
This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B

Gene Ontology (GO) - Molecular Function for CSTB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 6203523
GO:0004866 endopeptidase inhibitor activity TAS 3053245
GO:0004869 cysteine-type endopeptidase inhibitor activity IDA 3488317
GO:0005515 protein binding --
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with CSTB: view
genes like me logo Genes that share phenotypes with CSTB: view

Animal Models for CSTB Gene

MGI Knock Outs for CSTB:

miRNA for CSTB Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CSTB

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CSTB Gene

Localization for CSTB Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSTB Gene

Cytoplasm. Nucleus.

Subcellular locations from

Jensen Localization Image for CSTB Gene COMPARTMENTS Subcellular localization image for CSTB gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 2
lysosome 2
peroxisome 2
endoplasmic reticulum 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CSTB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 23580065
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with CSTB: view

Pathways for CSTB Gene

SuperPathways for CSTB Gene

No Data Available

Gene Ontology (GO) - Biological Process for CSTB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008344 adult locomotory behavior IEA --
GO:0010466 negative regulation of peptidase activity IDA 6203523
GO:0010951 negative regulation of endopeptidase activity TAS 3053245
GO:0042981 regulation of apoptotic process IEA --
GO:0045861 negative regulation of proteolysis IDA 3488317
genes like me logo Genes that share ontologies with CSTB: view

No data available for Pathways by source for CSTB Gene

Drugs for CSTB Gene

(1) ApexBio Compounds for CSTB Gene

Compound Action Cas Number
Papain Inhibitor Inhibitor of peptidase activity of Papain [70195-20-9]

(9) Novoseek inferred chemical compound relationships for CSTB Gene

Compound -log(P) Hits PubMed IDs
cysteine 77.3 38
kininogen 63.1 5
trifluoroethanol 55.5 4
oligonucleotide 0 1
serine 0 2
genes like me logo Genes that share compounds with CSTB: view

Transcripts for CSTB Gene

mRNA/cDNA for CSTB Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(454) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CSTB Gene

Cystatin B (stefin B):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CSTB

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CSTB Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b

Relevant External Links for CSTB Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CSTB Gene

mRNA expression in normal human tissues for CSTB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CSTB Gene

This gene is overexpressed in Esophagus - Mucosa (24.9) and Vagina (5.1).

Protein differential expression in normal tissues for CSTB Gene

This gene is overexpressed in Esophagus (7.9), Oral epithelium (6.5), and Saliva (6.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CSTB Gene

SOURCE GeneReport for Unigene cluster for CSTB Gene Hs.695

genes like me logo Genes that share expressions with CSTB: view

Expression partners for CSTB Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for CSTB Gene

Orthologs for CSTB Gene

This gene was present in the common ancestor of chordates.

Orthologs for CSTB Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CSTB 35
  • 81.29 (n)
  • 78.57 (a)
-- 36
  • 60 (a)
  • 71 (a)
  • 79 (a)
(Mus musculus)
Mammalia Cstb 35
  • 77.21 (n)
  • 78.57 (a)
Cstb 16
Cstb 36
  • 78 (a)
(Pan troglodytes)
Mammalia CSTB 35
  • 99.32 (n)
  • 98.98 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Cstb 35
  • 78.57 (n)
  • 78.57 (a)
(Canis familiaris)
Mammalia CSTB 36
  • 79 (a)
(Monodelphis domestica)
Mammalia CSTB 36
  • 57 (a)
(Ornithorhynchus anatinus)
Mammalia CSTB 36
  • 22 (a)
(Gallus gallus)
Aves CSTB 35
  • 72.79 (n)
  • 69.39 (a)
  • 69 (a)
(Anolis carolinensis)
Reptilia CSTB 36
  • 59 (a)
(Danio rerio)
Actinopterygii zgc:56530 35
  • 57.82 (n)
  • 55.1 (a)
si:ch211-161h7.6 36
  • 53 (a)
zgc:153129 36
  • 47 (a)
zgc:56530 36
  • 54 (a)
Species with no ortholog for CSTB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CSTB Gene

Gene Tree for CSTB (if available)
Gene Tree for CSTB (if available)

Paralogs for CSTB Gene

Paralogs for CSTB Gene

(1) SIMAP similar genes for CSTB Gene using alignment to 2 proteins: Pseudogenes for CSTB Gene

genes like me logo Genes that share paralogs with CSTB: view

Variants for CSTB Gene

Sequence variations from dbSNP and Humsavar for CSTB Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
rs4533 Likely benign 43,776,255(-) GGGGC(G/T)CCCTC reference, synonymous-codon
rs6369 -- 43,776,115(-) CGCTT(C/T)GGCCC intron-variant
rs6370 -- 43,776,096(-) ACCCC(C/T)GGGCT intron-variant
rs6371 -- 43,776,035(-) GAGTG(A/T)GCAGC intron-variant
rs6372 -- 43,776,034(-) AGTGA(A/G)CAGCG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CSTB Gene

Variant ID Type Subtype PubMed ID
dgv4761n71 CNV Loss 21882294
nsv509799 CNV Insertion 20534489
nsv913879 CNV Gain 21882294
nsv470904 CNV Loss 18288195
nsv913882 CNV Loss 21882294
nsv834107 CNV Loss 17160897
esv33817 CNV Loss 17666407
nsv520305 CNV Loss 19592680
nsv834108 CNV Loss 17160897
dgv4763n71 CNV Loss 21882294

Relevant External Links for CSTB Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSTB Gene

Disorders for CSTB Gene

(1) OMIM Diseases for CSTB Gene (601145)


  • Epilepsy, progressive myoclonic 1 (EPM1) [MIM:254800]: An autosomal recessive disorder characterized by severe, stimulus-sensitive myoclonus and tonic-clonic seizures. The onset, occurring between 6 and 13 years of age, is characterized by convulsions. Myoclonus begins 1 to 5 years later. The twitchings occur predominantly in the proximal muscles of the extremities and are bilaterally symmetrical, although asynchronous. At first small, they become late in the clinical course so violent that the victim is thrown to the floor. Mental deterioration and eventually dementia develop. {ECO:0000269 PubMed:9012407}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for CSTB Gene

(19) Novoseek inferred disease relationships for CSTB Gene

Disease -log(P) Hits PubMed IDs
progressive myoclonus epilepsies 95.2 20
epilepsies myoclonic 71.4 6
myoclonic seizure 66.9 3
lafora disease 65.3 3
fibrillation 44.3 1

Relevant External Links for CSTB

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with CSTB: view

No data available for Genatlas for CSTB Gene

Publications for CSTB Gene

  1. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). (PMID: 8596935) Pennacchio L.A. … Myers R.M. (Science 1996) 2 3 4 23
  2. Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). (PMID: 9012407) Lalioti M.D. … Antonarakis S.E. (Am. J. Hum. Genet. 1997) 3 4 23
  3. The refined 2.4 A X-ray crystal structure of recombinant human stefin B in complex with the cysteine proteinase papain: a novel type of proteinase inhibitor interaction. (PMID: 2347312) Stubbs M.T. … Turk V. (EMBO J. 1990) 3 4 23
  4. Nuclear localization of cystatin B, the cathepsin inhibitor implicated in myoclonus epilepsy (EPM1). (PMID: 11139332) Riccio M. … Santi S. (Exp. Cell Res. 2001) 3 4 23
  5. Different propensity to form amyloid fibrils by two homologous proteins-Human stefins A and B: searching for an explanation. (PMID: 15048832) Jenko S. … Zerovnik E. (Proteins 2004) 3 23

Products for CSTB Gene

Sources for CSTB Gene

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