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Aliases for CTSB Gene

Aliases for CTSB Gene

  • Cathepsin B 2 3 5
  • APP Secretase 3 4
  • Cathepsin B1 3 4
  • EC 4 58
  • APPS 3 4
  • CPSB 3 4
  • Amyloid Precursor Protein Secretase 3
  • Cysteine Protease 3
  • EC 3.4.22 58

External Ids for CTSB Gene

Previous GeneCards Identifiers for CTSB Gene

  • GC08M011764
  • GC08M011571
  • GC08M011739
  • GC08M011737
  • GC08M011700
  • GC08M010630

Summaries for CTSB Gene

Entrez Gene Summary for CTSB Gene

  • This gene encodes a member of the C1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin B light and heavy chains, which can dimerize to form the double chain form of the enzyme. This enzyme is a lysosomal cysteine protease with both endopeptidase and exopeptidase activity that may play a role in protein turnover. It is also known as amyloid precursor protein secretase and is involved in the proteolytic processing of amyloid precursor protein (APP). Incomplete proteolytic processing of APP has been suggested to be a causative factor in Alzheimer's disease, the most common cause of dementia. Overexpression of the encoded protein has been associated with esophageal adenocarcinoma and other tumors. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Nov 2015]

GeneCards Summary for CTSB Gene

CTSB (Cathepsin B) is a Protein Coding gene. Diseases associated with CTSB include Keratolytic Winter Erythema and Occlusion Of Gallbladder. Among its related pathways are Allograft rejection and Degradation of the extracellular matrix. GO annotations related to this gene include peptidase activity and cysteine-type peptidase activity. An important paralog of this gene is TINAGL1.

UniProtKB/Swiss-Prot for CTSB Gene

  • Thiol protease which is believed to participate in intracellular degradation and turnover of proteins. Has also been implicated in tumor invasion and metastasis.

Gene Wiki entry for CTSB Gene

Additional gene information for CTSB Gene

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

Genomics for CTSB Gene

Regulatory Elements for CTSB Gene

Enhancers for CTSB 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
GH08H011856 1.7 Ensembl ENCODE dbSUPER 22.8 +6.3 6312 12.5 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 CTSB DEFB135 ZNF705D LINC00208 ZNF705CP ENSG00000249316 LINC00529 OR7E10P FAM167A-AS1 FDFT1
GH08H011874 2 FANTOM5 Ensembl ENCODE dbSUPER 19.1 -7.9 -7911 6 PKNOX1 FOXA2 MLX ARNT ARID4B YY1 ZNF766 FOS SP5 ZNF592 FDFT1 CTSB LOC105379243 DEFB136 DEFB135 NEIL2 PIR55200
GH08H011890 1.8 FANTOM5 Ensembl ENCODE dbSUPER 17.1 -22.1 -22137 2 ELF3 FOXA2 ZSCAN4 ZNF133 INSM2 KLF17 FEZF1 DMAP1 ZNF2 RARA CTSB RPS3AP34 RPS3AP35 LOC101929290 DEFB136 DEFB135 PIR55200 ENSG00000255144
GH08H011851 1.6 Ensembl ENCODE dbSUPER 18.8 +15.7 15710 3.9 PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 FOS PAF1 SP5 FDFT1 CTSB LOC105379243 NEIL2 PIR38437 GC08M011864
GH08H011844 1.1 ENCODE dbSUPER 26.7 +22.2 22182 6 BCOR CTCF NFIB ZNF133 ZMYM3 CEBPG ZNF384 RAD21 TEAD3 ZNF121 CTSB FDFT1 NEIL2 LOC100129129 PIR38437 PIR53108
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CTSB on UCSC Golden Path with GeneCards custom track

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

Transcription factor binding sites by QIAGEN in the CTSB gene promoter:

Genomic Locations for CTSB Gene

Genomic Locations for CTSB Gene
26,925 bases
Minus strand

Genomic View for CTSB Gene

Genes around CTSB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTSB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTSB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTSB Gene

Proteins for CTSB Gene

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

    Protein Symbol:
    Recommended name:
    Cathepsin B
    Protein Accession:
    Secondary Accessions:
    • B3KQR5
    • B3KRR5
    • Q503A6
    • Q96D87

    Protein attributes for CTSB Gene

    339 amino acids
    Molecular mass:
    37822 Da
    Quaternary structure:
    • Dimer of a heavy chain and a light chain cross-linked by a disulfide bond. Interacts with SRPX2. Directly interacts with SHKBP1 (PubMed:16733801).

    Three dimensional structures from OCA and Proteopedia for CTSB Gene

neXtProt entry for CTSB Gene

Selected DME Specific Peptides for CTSB Gene


Post-translational modifications for CTSB Gene

  • Ubiquitination at isoforms=223 and isoforms=237
  • Glycosylation at isoforms=192
  • Modification sites at PhosphoSitePlus

Domains & Families for CTSB Gene

Gene Families for CTSB Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Enzymes
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CTSB Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase C1 family.
  • Belongs to the peptidase C1 family.
genes like me logo Genes that share domains with CTSB: view

Function for CTSB Gene

Molecular function for CTSB Gene

GENATLAS Biochemistry:
cathepsin B,lysosomal cysteine proteinase,ubiquitously expressed,?same as APP secretase,?prorenin-processing enzyme,papain superfamily,involved in matrix degradation during endochondral ossification,contributing to both local invasion at the early stage and remote metastasis in colorectal cancer
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of proteins with broad specificity for peptide bonds. Preferentially cleaves -Arg-Arg- -Xaa bonds in small molecule substrates (thus differing from cathepsin L). In addition to being an endopeptidase, shows peptidyl-dipeptidase activity, liberating C-terminal dipeptides.
UniProtKB/Swiss-Prot Function:
Thiol protease which is believed to participate in intracellular degradation and turnover of proteins. Has also been implicated in tumor invasion and metastasis.

Enzyme Numbers (IUBMB) for CTSB Gene

Phenotypes From GWAS Catalog for CTSB Gene

Gene Ontology (GO) - Molecular Function for CTSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004197 cysteine-type endopeptidase activity IDA,IEA 6203523
GO:0004252 serine-type endopeptidase activity TAS --
GO:0005515 protein binding IPI 6203523
GO:0005518 collagen binding IDA 22952693
GO:0008233 peptidase activity IDA 7890620
genes like me logo Genes that share ontologies with CTSB: view
genes like me logo Genes that share phenotypes with CTSB: view

Animal Models for CTSB Gene

MGI Knock Outs for CTSB:

Clone Products

  • Addgene plasmids for CTSB

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CTSB Gene

Localization for CTSB Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTSB Gene

Lysosome. Melanosome. Secreted, extracellular space. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTSB gene
Compartment Confidence
extracellular 5
nucleus 5
lysosome 5
endosome 5
mitochondrion 4
cytosol 3
plasma membrane 2
cytoskeleton 2
endoplasmic reticulum 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CTSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA,ISS 22261194
GO:0005622 intracellular TAS 1645961
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with CTSB: view

Pathways & Interactions for CTSB Gene

genes like me logo Genes that share pathways with CTSB: view

Pathways by source for CTSB Gene

Gene Ontology (GO) - Biological Process for CTSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0006508 proteolysis IEA,IDA 7890620
GO:0030574 collagen catabolic process IDA,TAS --
GO:0030855 epithelial cell differentiation IEP 21492153
GO:0042981 regulation of apoptotic process TAS 16130169
genes like me logo Genes that share ontologies with CTSB: view

No data available for SIGNOR curated interactions for CTSB Gene

Drugs & Compounds for CTSB Gene

(83) Drugs for CTSB Gene - From: DrugBank, ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
2-Aminoethanimidic Acid Experimental Pharma Target 0
2-Pyridinethiol Experimental Pharma Target 0
3-Amino-4-Oxybenzyl-2-Butanone Experimental Pharma Target 0
3-Methylphenylalanine Experimental Pharma Target 0

(64) Additional Compounds for CTSB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(9) ApexBio Compounds for CTSB Gene

Compound Action Cas Number
CA 074 Cathepsin B inhibitor 134448-10-5
CA-074 Me Cathepsin B inhibitor 147859-80-1
Calpain Inhibitor I, ALLN Calpain I/II/ B/L inhibitor 110044-82-1
Calpain Inhibitor II, ALLM Calpain inhibitor 136632-32-1
Cathepsin Inhibitor 1 Cathepsin inhibitor 225120-65-0
E 64d Cysteine protease inhibitor 88321-09-9
E-64 Cysteine protease inhibitor,irriversible 66701-25-5
E-64-c Inhibitor of cysteine proteinases 76684-89-4
MDL 28170 Calpain and cathepsin B inhibitor, selective 88191-84-8
genes like me logo Genes that share compounds with CTSB: view

Drug Products

Transcripts for CTSB Gene

Unigene Clusters for CTSB Gene

Cathepsin B:
Representative Sequences:

Clone Products

  • Addgene plasmids for CTSB

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

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13 ^ 14a ·
SP1: - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - - - - -
SP5: - - - - -
SP6: - -
SP8: - - - - -
SP9: - - - -
SP11: - - - - -
SP12: - - - - -

ExUns: 14b ^ 15 ^ 16a · 16b

Relevant External Links for CTSB Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CTSB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CTSB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CTSB Gene

This gene is overexpressed in Amniocyte (16.2) and Nasal epithelium (8.5).

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

NURSA nuclear receptor signaling pathways regulating expression of CTSB Gene:


SOURCE GeneReport for Unigene cluster for CTSB Gene:


Evidence on tissue expression from TISSUES for CTSB Gene

  • Nervous system(5)
  • Liver(4.9)
  • Skin(4.7)
  • Blood(4.6)
  • Lung(4.6)
  • Intestine(4.5)
  • Bone(4.4)
  • Kidney(4.4)
  • Pancreas(4.4)
  • Eye(4.2)
  • Heart(3.5)
  • Muscle(3.5)
  • Spleen(3.5)
  • Thyroid gland(3.5)
  • Lymph node(3.2)
  • Stomach(3.2)
  • Adrenal gland(3)
  • Gall bladder(2.5)
  • Bone marrow(2.2)
genes like me logo Genes that share expression patterns with CTSB: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CTSB Gene

Orthologs for CTSB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CTSB Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CTSB 33 34
  • 98.62 (n)
(Canis familiaris)
Mammalia CTSB 33 34
  • 86.23 (n)
(Bos Taurus)
Mammalia CTSB 33
  • 85.27 (n)
  • 84 (a)
(Rattus norvegicus)
Mammalia Ctsb 33
  • 80.14 (n)
(Mus musculus)
Mammalia Ctsb 33 16 34
  • 80.04 (n)
(Monodelphis domestica)
Mammalia CTSB 34
  • 78 (a)
(Ornithorhynchus anatinus)
Mammalia CTSB 34
  • 51 (a)
(Gallus gallus)
Aves CTSB 33 34
  • 75.71 (n)
(Anolis carolinensis)
Reptilia CTSB 34
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ctsb 33
  • 70.78 (n)
MGC75969 33
African clawed frog
(Xenopus laevis)
Amphibia cg10992-prov 33
(Danio rerio)
Actinopterygii ctsba 33 34
  • 69.72 (n)
ctsbb 34
  • 64 (a)
-- 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1055 33
fruit fly
(Drosophila melanogaster)
Insecta CtsB1 33 34
  • 59.9 (n)
CG10992 35
  • 58 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004533 33
  • 58.63 (n)
(Caenorhabditis elegans)
Secernentea F57F5.1 35 34
  • 51 (a)
cpr-4 35 34
  • 49 (a)
cpr-6 35 34
  • 49 (a)
W07B8.4 35 34
  • 49 (a)
cpr-1 34
  • 47 (a)
cpr-5 34
  • 47 (a)
F36D3.9 35
  • 44 (a)
cpr-2 34
  • 43 (a)
W07B8.1 35 34
  • 41 (a)
cpr-3 34
  • 40 (a)
F32H5.1 35 34
  • 38 (a)
Y65B4A.2 34
  • 24 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G02305 33
  • 55.36 (n)
(Oryza sativa)
Liliopsida Os05g0310500 33
  • 58.84 (n)
(Hordeum vulgare)
Liliopsida Hv.392 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2385 34
  • 59 (a)
Species where no ortholog for CTSB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CTSB Gene

Gene Tree for CTSB (if available)
Gene Tree for CTSB (if available)

Paralogs for CTSB Gene

Variants for CTSB Gene

Sequence variations from dbSNP and Humsavar for CTSB Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000014976 -- 11,847,540(+) AAGAG(A/C/G)GCATC intron-variant
rs1000089744 -- 11,866,893(+) ACGTT(-/TGGATTCAAAGAGAG)TGCAT intron-variant
rs1000104175 -- 11,862,982(+) ACTGC(C/T)AGCCA intron-variant
rs1000148485 -- 11,856,656(+) ACAGA(C/G)TAAAA intron-variant
rs1000177425 -- 11,845,721(+) ATTCT(C/G)CACTC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv610293 CNV gain 21841781
nsv516685 CNV gain+loss 19592680
nsv1034132 CNV gain 25217958
nsv1032739 CNV loss 25217958
nsv1018042 CNV gain 25217958
esv3616260 CNV loss 21293372
esv3616259 CNV loss 21293372
esv3572517 CNV loss 25503493
esv3572516 CNV loss 25503493
esv34042 CNV loss 18971310
esv2762727 CNV loss 21179565
esv2668269 CNV deletion 23128226
dgv2039e212 CNV loss 25503493

Variation tolerance for CTSB Gene

Residual Variation Intolerance Score: 40% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.40; 90.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CTSB 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 CTSB Gene

Disorders for CTSB Gene

MalaCards: The human disease database

(26) MalaCards diseases for CTSB Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
keratolytic winter erythema
  • erythrokeratolysis hiemalis ichthyosis
occlusion of gallbladder
  • obstruction of gallbladder
acute pancreatitis
  • acute necrotizing pancreatitis
tropical calcific pancreatitis
  • fibrocalculous pancreatic diabetes
ileum cancer
  • ileal neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search CTSB in MalaCards View complete list of genes associated with diseases

Relevant External Links for CTSB

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 CTSB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CTSB Gene

Publications for CTSB Gene

  1. Human gastric adenocarcinoma cathepsin B: isolation and sequencing of full-length cDNAs and polymorphisms of the gene. (PMID: 8112600) Cao L … Sloane BF (Gene 1994) 2 3 4 22 60
  2. Polymorphism L26V in the cathepsin B gene may be associated with a risk of prostate cancer and differentiation. (PMID: 19930869) Stiblar-Martincic D … Hajdinjak T (The Journal of international medical research 2009) 3 22 45 60
  3. Association of cathepsin B gene polymorphisms with tropical calcific pancreatitis. (PMID: 16492714) Mahurkar S … Chandak GR (Gut 2006) 3 22 45 60
  4. Human tumour cathepsin B. Comparison with normal liver cathepsin B. (PMID: 1637335) Moin K … Sloane BF (The Biochemical journal 1992) 3 4 22 60
  5. The refined 2.15 A X-ray crystal structure of human liver cathepsin B: the structural basis for its specificity. (PMID: 1868826) Musil D … Katunuma N (The EMBO journal 1991) 3 4 22 60

Products for CTSB Gene

  • Addgene plasmids for CTSB