Gene Gene information from NCBI Gene database.
Entrez ID 1508
Gene name Cathepsin B
Gene symbol CTSB
Synonyms (NCBI Gene)
APPSCPSBKWERECEUP
Chromosome 8
Chromosome location 8p23.1
Summary 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 pro
miRNA miRNA information provided by mirtarbase database.
807
miRTarBase ID miRNA Experiments Reference
MIRT049702 hsa-miR-92a-3p CLASH 23622248
MIRT046187 hsa-miR-27b-3p CLASH 23622248
MIRT725558 hsa-miR-183-5p HITS-CLIP 19536157
MIRT725557 hsa-miR-1271-5p HITS-CLIP 19536157
MIRT725556 hsa-miR-96-5p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
8
Transcription factor Regulation Reference
ETS1 Unknown 10701774
NFKB1 Activation 15102937;18598236
RELA Activation 15102937;18598236
SP1 Unknown 10701774
SP3 Unknown 10701774
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
GO ID Ontology Definition Evidence Reference
GO:0004175 Function Endopeptidase activity IEA
GO:0004197 Function Cysteine-type endopeptidase activity IBA
GO:0004197 Function Cysteine-type endopeptidase activity IDA 6203523, 22952693
GO:0004197 Function Cysteine-type endopeptidase activity IEA
GO:0004197 Function Cysteine-type endopeptidase activity TAS 1645961
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
116810 2527 ENSG00000164733
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P07858
Protein name Cathepsin B (EC 3.4.22.1) (APP secretase) (APPS) (Cathepsin B1) [Cleaved into: Cathepsin B light chain; Cathepsin B heavy chain]
Protein function Thiol protease which is believed to participate in intracellular degradation and turnover of proteins (PubMed:12220505). Cleaves matrix extracellular phosphoglycoprotein MEPE (PubMed:12220505). Involved in the solubilization of cross-linked TG/t
PDB 1CSB , 1GMY , 1HUC , 1PBH , 2IPP , 2PBH , 3AI8 , 3CBJ , 3CBK , 3K9M , 3PBH , 5MBL , 5MBM , 6AY2 , 8B4T , 8B5F , 8HE9 , 8HEI , 8HEN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08127 Propeptide_C1 26 65 Peptidase family C1 propeptide Motif
PF00112 Peptidase_C1 80 329 Papain family cysteine protease Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the stratum spinosum of the epidermis. Weak expression is detected in the stratum granulosum. {ECO:0000269|PubMed:28457472}.
Sequence
Sequence length 339
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Autophagy - animal
Lysosome
Apoptosis
Antigen processing and presentation
NOD-like receptor signaling pathway
Renin secretion
  Collagen degradation
Trafficking and processing of endosomal TLR
Assembly of collagen fibrils and other multimeric structures
MHC class II antigen presentation
Neutrophil degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CTSB-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly BEFREE 28332074
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 25946654
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 20567828
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 10995788
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 10728696, 9770500
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 30818851
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 9770500
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 19930869
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of rectum Adenocarcinoma Of Rectum BEFREE 30818851
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 30968153
★☆☆☆☆
Found in Text Mining only