GZMB (granzyme B)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3002
Gene name Gene Name - the full gene name approved by the HGNC.
Granzyme B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GZMB
Synonyms (NCBI Gene) Gene synonyms aliases
C11, CCPI, CGL-1, CGL1, CSP-B, CSPB, CTLA1, CTSGL1, HLP, SECT
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q12
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the granzyme subfamily of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by natural killer (NK) cells and cytotoxic T lymphocytes (CTLs) and proteolytically processed to g
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT732706 hsa-miR-518a-5p Luciferase reporter assay, qRT-PCR, Western blotting 33994508
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
CEBPZ Unknown 9857074
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(44)
GO ID Ontology Definition Evidence Reference
GO:0001772 Component Immunological synapse TAS 12524539
GO:0001778 Process Plasma membrane repair IDA 20530211
GO:0002839 Process Positive regulation of immune response to tumor cell IDA 32188940
GO:0004252 Function Serine-type endopeptidase activity EXP 32188940
GO:0004252 Function Serine-type endopeptidase activity IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
123910 4709 ENSG00000100453
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P10144
Protein name Granzyme B (EC 3.4.21.79) (C11) (CTLA-1) (Cathepsin G-like 1) (CTSGL1) (Cytotoxic T-lymphocyte proteinase 2) (Lymphocyte protease) (Fragmentin-2) (Granzyme-2) (Human lymphocyte protein) (HLP) (SECT) (T-cell serine protease 1-3E)
Protein function Abundant protease in the cytosolic granules of cytotoxic T-cells and NK-cells which activates caspase-independent pyroptosis when delivered into the target cell through the immunological synapse (PubMed:1985927, PubMed:3262682, PubMed:3263427).
PDB 1FQ3 , 1IAU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00089 Trypsin 21 → 240 Trypsin Domain
Sequence
Sequence length 247
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Apoptosis
Natural killer cell mediated cytotoxicity
Type I diabetes mellitus
Transcriptional misregulation in cancer
Autoimmune thyroid disease
Allograft rejection
Graft-versus-host disease 		  Activation, myristolyation of BID and translocation to mitochondria
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Vitiligo Vitiligo N/A N/A GWAS
Show/Hide Text Mining Associations (276)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acne Vulgaris Associate 16528362
Acquired Immunodeficiency Syndrome Associate 11304847
Acrocephalosyndactylia Stimulate 24307760
Acute Coronary Syndrome Associate 24307760, 35563407
Acute On Chronic Liver Failure Associate 36505417
Acute Tubulointerstitial Nephritis Associate 34599025
Addison Disease Stimulate 28223394
Adenocarcinoma Associate 19055699
Adenocarcinoma of Lung Associate 28522562
Allergic Fungal Sinusitis Inhibit 29122079