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Aliases for CSTB Gene

Aliases for CSTB Gene

  • Cystatin B 2 3 5
  • Liver Thiol Proteinase Inhibitor 3 4
  • Cystatin B (Stefin B) 2 3
  • CPI-B 3 4
  • STFB 3 4
  • CST6 3 4
  • Cystatin-B 3
  • Stefin B 2
  • Stefin-B 4
  • EPM1A 3
  • EPM1 3
  • PME 3
  • ULD 3

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). 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]

GeneCards Summary for CSTB Gene

CSTB (Cystatin B) is a Protein Coding gene. Diseases associated with CSTB include Epilepsy, Progressive Myoclonic 1A and Unverricht-Lundborg Syndrome. Among its related pathways are Immune System. GO annotations related to this gene include poly(A) RNA binding and 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

Enhancers for CSTB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21F043778 0.2 ENCODE 28.8 -2.4 -2436 1.5 CTCF SCRT1 KLF1 PPARG ZBTB7A SCRT2 IKZF1 PRDM10 MLLT1 ZNF600 CSTB LOC105372825
GH21F043804 1 Ensembl ENCODE 27.9 -29.3 -29344 3.2 HDGF TBP PKNOX1 TBL1XR1 WRNIP1 SIN3A YBX1 BMI1 ZBTB40 SCRT2 CSTB RRP1 AATBC GC21P043803
GH21F043774 0.4 ENCODE 27.1 +0.6 587 2.4 CREB3L1 ARID4B SIN3A DMAP1 ZNF207 KLF13 ZNF263 SP3 SP5 MXD4 WDR4 CSTB U2AF1 ENSG00000184441 ENSG00000233754 RRP1 GC21M043771
GH21F043814 0.8 FANTOM5 Ensembl ENCODE 26.2 -40.2 -40243 5.0 HDAC1 PKNOX1 ZNF133 RAD21 ETV6 EGR2 ZNF280D ZEB2 ZNF341 GLIS1 CSTB RRP1 AATBC AGPAT3 TRAPPC10 ICOSLG GC21M043858
GH21F043782 1 FANTOM5 Ensembl ENCODE 25.9 -6.6 -6626 1.7 ATF1 MLX ARID4B DMAP1 YY1 SLC30A9 FOS SP5 MIER2 PPARG CSTB RRP1 AATBC LOC105372825 TMEM97P1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CSTB on UCSC Golden Path with GeneCards custom track

Promoters for CSTB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000614567 545 2601 CREB3L1 ARID4B SIN3A DMAP1 ZNF207 KLF13 ZNF263 SP3 SP5 MXD4

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

Genes around CSTB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSTB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:

    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

Post-translational modifications for CSTB Gene

  • Ubiquitination at Lys 39, Lys 44, and Lys 78
  • Modification sites at PhosphoSitePlus

Other Protein References for CSTB Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CSTB Gene

Domains & Families 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 IEA,TAS 3053245
GO:0004869 cysteine-type endopeptidase inhibitor activity IEA,IDA 3488317
GO:0030414 peptidase inhibitor activity IEA --
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

Human Phenotype Ontology for CSTB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CSTB Gene

MGI Knock Outs for CSTB:

Animal Model Products

miRNA for CSTB Gene

Inhibitory RNA Products

Clone 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
extracellular 5
nucleus 5
cytosol 4
lysosome 2
peroxisome 2
vacuole 2
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CSTB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 3488317
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA,IDA 11139332
genes like me logo Genes that share ontologies with CSTB: view

Pathways & Interactions for CSTB Gene

SuperPathways for CSTB Gene

SuperPathway Contained pathways
1 Immune System
genes like me logo Genes that share pathways with CSTB: view

Pathways by source for CSTB Gene

2 Reactome pathways for CSTB Gene

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 IEA,IDA 6203523
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0045861 negative regulation of proteolysis IDA 3488317
genes like me logo Genes that share ontologies with CSTB: view

No data available for SIGNOR curated interactions for CSTB Gene

Drugs & Compounds for CSTB Gene

(6) Drugs for CSTB Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Papain Inhibitor Pharma Inhibitor of peptidase activity of Papain 0

(4) Additional Compounds for CSTB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for CSTB Gene

Compound Action Cas Number
Papain Inhibitor Inhibitor of peptidase activity of Papain 70195-20-9
genes like me logo Genes that share compounds with CSTB: view

Transcripts for CSTB Gene

mRNA/cDNA for CSTB Gene

Unigene Clusters for CSTB Gene

Cystatin B (stefin B):
Representative Sequences:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and SAGE 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 (x24.9) and Vagina (x5.1).

Protein differential expression in normal tissues from HIPED for CSTB Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CSTB Gene

Protein tissue co-expression partners for CSTB Gene

NURSA nuclear receptor signaling pathways regulating expression of CSTB Gene:


SOURCE GeneReport for Unigene cluster for CSTB Gene:

genes like me logo Genes that share expression patterns with CSTB: view

Primer 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
(Pan troglodytes)
Mammalia CSTB 34 35
  • 99.32 (n)
(Bos Taurus)
Mammalia CSTB 34 35 35
  • 81.29 (n)
-- 35
  • 60 (a)
(Canis familiaris)
Mammalia CSTB 35
  • 79 (a)
(Rattus norvegicus)
Mammalia Cstb 34
  • 78.57 (n)
(Mus musculus)
Mammalia Cstb 34 16 35
  • 77.21 (n)
(Monodelphis domestica)
Mammalia CSTB 35
  • 57 (a)
(Ornithorhynchus anatinus)
Mammalia CSTB 35
  • 22 (a)
(Gallus gallus)
Aves CSTB 34 35
  • 72.79 (n)
(Anolis carolinensis)
Reptilia CSTB 35
  • 59 (a)
(Danio rerio)
Actinopterygii zgc:56530 34 35
  • 57.82 (n)
si:ch211-161h7.6 35
  • 53 (a)
zgc:153129 35
  • 47 (a)
Species where no ortholog for CSTB was found in the sources mined by GeneCards:
  • 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
rs74315443 Epilepsy, progressive myoclonic 1 (EPM1) [MIM:254800], Pathogenic 43,776,260(-) TGTGC(C/G)GGGCG reference, missense
rs121909346 Pathogenic 43,774,287(-) GTTCC(A/C)ATCTC reference, missense
rs147484110 Pathogenic 43,774,760(+) CTCAC(C/G)TAGAC splice-acceptor-variant
rs312262707 Pathogenic 43,774,640(-) TCAAG(-/GTAGAGTGTGGGCCTCAG)GAGGG splice-donor-variant
rs312262708 Pathogenic 43,774,677(-) CGCGG(A/G)GACAA reference, missense

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

Variant ID Type Subtype PubMed ID
esv33817 CNV loss 17666407
nsv470904 CNV loss 18288195
nsv509799 CNV insertion 20534489
nsv520305 CNV loss 19592680
nsv834107 CNV loss 17160897
nsv834108 CNV loss 17160897
nsv953642 CNV deletion 24416366

Variation tolerance for CSTB Gene

Residual Variation Intolerance Score: 44.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.40; 8.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CSTB Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for CSTB Gene

MalaCards: The human disease database

(10) MalaCards diseases for CSTB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, progressive myoclonic 1a
  • progressive myoclonus epilepsy
unverricht-lundborg syndrome
  • unverricht - lundborg disease
  • epilepsy syndrome
early myoclonic encephalopathy
  • epileptic seizures - myoclonic
myoclonus epilepsy
  • epilepsies, myoclonic
- elite association - COSMIC cancer census association via MalaCards
Search CSTB in MalaCards View complete list of genes associated with diseases


  • 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.

Relevant External Links for CSTB

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 22 64
  2. 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 22 64
  3. 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 22 64
  4. 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 22 64
  5. Intracellular aggregation of human stefin B: confocal and electron microscopy study. (PMID: 20078424) Ceru S. … Zerovnik E. (Biol. Cell 2010) 3 22 64

Products for CSTB Gene

Sources for CSTB Gene

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