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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
  • 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). [provided by RefSeq, Jul 2008]

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. 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

Promoters for CSTB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CSTB on UCSC Golden Path with GeneCards custom track

Genomic Location for CSTB Gene

Chromosome:
21
Start:
43,772,512 bp from pter
End:
43,776,445 bp from pter
Size:
3,934 bases
Orientation:
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:
    P04080-CYTB_HUMAN
    Recommended name:
    Cystatin-B
    Protein Accession:
    P04080

    Protein attributes for CSTB Gene

    Size:
    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 Lys 39, Lys 44, and Lys 78
  • 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 & Families for CSTB Gene

Gene Families for CSTB Gene

Protein Domains for CSTB Gene

Suggested Antigen Peptide Sequences for CSTB Gene

Graphical View of Domain Structure for InterPro Entry

P04080

UniProtKB/Swiss-Prot:

CYTB_HUMAN :
  • Belongs to the cystatin family.
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:0004866 endopeptidase inhibitor activity TAS 3053245
GO:0004869 cysteine-type endopeptidase inhibitor activity IEA,IDA 3488317
GO:0005515 protein binding IEA --
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

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

COMPARTMENTS
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:0005737 cytoplasm IDA 11139332
genes like me logo Genes that share ontologies with CSTB: view

Pathways & Interactions for CSTB Gene

SuperPathways for CSTB Gene

No Data Available

Gene Ontology (GO) - Biological Process for CSTB Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CSTB Gene

Drugs & Compounds for CSTB Gene

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

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
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:

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

ExUns: 1a · 1b ^ 2 ^ 3a · 3b
SP1:
SP2:

Relevant External Links for CSTB Gene

GeneLoc Exon Structure for
CSTB
ECgene alternative splicing isoforms for
CSTB

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 (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, MOPED, and MaxQB for CSTB Gene



SOURCE GeneReport for Unigene cluster for CSTB Gene Hs.695

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

Protein tissue co-expression partners for CSTB Gene

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
cow
(Bos Taurus)
Mammalia CSTB 35
  • 81.29 (n)
  • 78.57 (a)
-- 36
  • 60 (a)
OneToMany
CSTB 36
  • 71 (a)
OneToMany
CSTB 36
  • 79 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Cstb 35
  • 77.21 (n)
  • 78.57 (a)
Cstb 16
Cstb 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CSTB 35
  • 99.32 (n)
  • 98.98 (a)
CSTB 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cstb 35
  • 78.57 (n)
  • 78.57 (a)
dog
(Canis familiaris)
Mammalia CSTB 36
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CSTB 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CSTB 36
  • 22 (a)
OneToOne
chicken
(Gallus gallus)
Aves CSTB 35
  • 72.79 (n)
  • 69.39 (a)
CSTB 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CSTB 36
  • 59 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii zgc:56530 35
  • 57.82 (n)
  • 55.1 (a)
si:ch211-161h7.6 36
  • 53 (a)
ManyToMany
zgc:153129 36
  • 47 (a)
ManyToMany
zgc:56530 36
  • 54 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for CSTB (if available)
TreeFam:
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.org 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
VAR_002206 Epilepsy, progressive myoclonic 1 (EPM1)
rs4533 -- 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

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

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

HapMap Linkage Disequilibrium report
CSTB
Human Gene Mutation Database (HGMD)
CSTB

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

Disorders for CSTB Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
epilepsy, progressive myoclonic 1a
  • unverricht-lundborg syndrome
unverricht-lundborg syndrome
  • unverricht - lundborg disease
progressive myoclonus epilepsy
  • unverricht-lundborg 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

UniProtKB/Swiss-Prot

CYTB_HUMAN
  • 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)
CSTB
Human Genome Epidemiology (HuGE) Navigator
CSTB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CSTB
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 67
  2. Interaction between oligomers of stefin B and amyloid-beta in vitro and in cells. (PMID: 19955183) Skerget K. … Zerovnik E. (J. Biol. Chem. 2010) 3 23
  3. Stefin B interacts with histones and cathepsin L in the nucleus. (PMID: 20075068) Ceru S. … Kopitar-Jerala N. (J. Biol. Chem. 2010) 3 23
  4. Intracellular aggregation of human stefin B: confocal and electron microscopy study. (PMID: 20078424) Ceru S. … Zerovnik E. (Biol. Cell 2010) 3 23
  5. The mechanism of amyloid-fibril formation by stefin B: temperature and protein concentration dependence of the rates. (PMID: 18636508) Skerget K. … Zerovnik E. (Proteins 2009) 3 23

Products for CSTB Gene

Sources for CSTB Gene

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