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Aliases for CTSB Gene

Aliases for CTSB Gene

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

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 Collagen chain trimerization and Apoptosis and Autophagy. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for CTSB Gene

Promoters and enhancers for CTSB Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J011856 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 672.8 +6.3 6311 12.5 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 NFYC MEF2D CTSB PIR52976 GC08M011864 DEFB135 ZNF705D LINC00208 ZNF705CP ENSG00000249316 LINC00529 OR7E10P
GH08J011869 Enhancer 0.7 ENCODE dbSUPER 657 -0.2 -159 0.2 MITF TFAP4 ZBTB33 ZNF384 CTSB PIR55200
GH08J011874 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 19.1 -7.9 -7910 6 PKNOX1 SMAD1 FOXA2 MLX ARNT ARID4B YY1 ZNF766 E2F8 FOS FDFT1 CTSB LOC105379243 DEFB136 DEFB135 NEIL2 PIR55200
GH08J011799 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13 +64.6 64626 11.2 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 GLIS1 FDFT1 ENSG00000255122 PINX1 DEFB135 LINC00208 ZNF705D ZNF705CP LINC00529 ENSG00000249316 OR7E10P
GH08J011844 Enhancer 1 ENCODE dbSUPER 26.8 +22.2 22181 6 NFIB ZNF133 RAD21 ZNF121 POLR2B E2F8 SCRT2 PAF1 RXRA CEBPB PIR43605 ENSG00000269899 PIR53108 PIR36400 PIR38437 CTSB FDFT1 NEIL2 ENSG00000255020 PIR35218
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CTSB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CTSB gene promoter:
  • AML1a

Genomic Locations for CTSB Gene

Genomic Locations for CTSB Gene
26,925 bases
Minus strand
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

Post-translational modifications for CTSB Gene

  • Glycosylation at posLast=192192
  • Ubiquitination at Lys237 and posLast=223223
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for CTSB Gene

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

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.
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.
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

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 IEA,IDA 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

Human Phenotype Ontology for CTSB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CTSB Gene

MGI Knock Outs for CTSB:

Animal Model Products

Clone Products

  • Addgene plasmids for CTSB

No data available for 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 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

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

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, 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(3.1)
  • Adrenal gland(3)
  • Gall bladder(2.5)
  • Bone marrow(2.3)
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 34 33
  • 98.62 (n)
(Canis familiaris)
Mammalia CTSB 34 33
  • 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 16 34 33
  • 80.04 (n)
(Monodelphis domestica)
Mammalia CTSB 34
  • 78 (a)
(Ornithorhynchus anatinus)
Mammalia CTSB 34
  • 51 (a)
(Gallus gallus)
Aves CTSB 34 33
  • 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 34 33
  • 69.72 (n)
ctsbb 34
  • 64 (a)
-- 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1055 33
fruit fly
(Drosophila melanogaster)
Insecta CtsB1 34 33
  • 59.9 (n)
CG10992 35
  • 58 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004533 33
  • 58.63 (n)
(Caenorhabditis elegans)
Secernentea W07B8.4 34 35
  • 47 (a)
cpr-4 34 35
  • 47 (a)
cpr-5 34
  • 47 (a)
cpr-1 34
  • 47 (a)
F57F5.1 34 35
  • 46 (a)
F36D3.9 35
  • 44 (a)
cpr-2 34
  • 43 (a)
cpr-3 34
  • 40 (a)
cpr-6 34 35
  • 40 (a)
W07B8.1 34 35
  • 39 (a)
F32H5.1 34 35
  • 36 (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)
Evolutionary constrained regions (ECRs) for CTSB: view image

Paralogs for CTSB Gene

Paralogs for CTSB Gene

(3) SIMAP similar genes for CTSB Gene using alignment to 18 proteins:

  • E9PJ67_HUMAN
  • E9PL32_HUMAN
  • E9PR00_HUMAN
  • E9PR54_HUMAN
  • E9PS78_HUMAN
  • R4GMQ5_HUMAN Pseudogenes for CTSB Gene

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

Variants for CTSB Gene

Sequence variations from dbSNP and Humsavar for CTSB Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs748590400 likely-benign, not specified 11,847,832(-) C/T intron_variant
rs1000014976 -- 11,847,540(-) G/A/C intron_variant
rs1000089744 -- 11,866,893(-) TGGATTCAAAGAGAGTG/TG genic_upstream_transcript_variant, intron_variant
rs1000104175 -- 11,862,982(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000148485 -- 11,856,656(-) G/C genic_upstream_transcript_variant, intron_variant

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

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

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)

Additional Variant Information for CTSB Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CTSB Gene

MalaCards: The human disease database

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

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

Additional Disease Information for CTSB

Genetic Association Database
Human Genome Epidemiology 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 58
  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 44 58
  3. Association of cathepsin B gene polymorphisms with tropical calcific pancreatitis. (PMID: 16492714) Mahurkar S … Chandak GR (Gut 2006) 3 22 44 58
  4. Human tumour cathepsin B. Comparison with normal liver cathepsin B. (PMID: 1637335) Moin K … Sloane BF (The Biochemical journal 1992) 3 4 22 58
  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 58

Products for CTSB Gene

  • Addgene plasmids for CTSB