GZMB (granzyme B)

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Gene Gene information from NCBI Gene database.
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Entrez ID 3002
Gene name Granzyme B
Gene symbol GZMB
Synonyms (NCBI Gene)
C11CCPICGL-1CGL1CSP-BCSPBCTLA1CTSGL1HLPSECT
Chromosome 14
Chromosome location 14q12
Summary 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.
1
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miRTarBase ID miRNA Experiments Reference
MIRT732706 hsa-miR-518a-5p Luciferase reporter assayqRT-PCRWestern blotting 33994508
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
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Transcription factor Regulation Reference
CEBPZ Unknown 9857074
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
123910 4709 ENSG00000100453
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 
MQPILLLLAFLLLPRADAGEIIGGHEAKPHSRPYMAYLMIWDQKSLKRCGGFLIRDDFVL
TAAHCWGSSINVTLGAHNIKEQEPTQQFIPVKRPIPHPAYNPKNFSNDIMLLQLERKAKR
TRAVQPLRLPSNKAQVKPGQTCSVAGWGQTAPLGKHSHTLQEVKMTVQEDRKCESDLRHY
YDSTIELCVGDPEIKKTSFKGDSGGPLVCNKVAQGIVSYGRNNGMPPRACTKVSSFVHWI
KKTMKRY
Sequence length 247
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway Reactome Pathway
Apoptosis Activation, myristolyation of BID and translocation to mitochondria
Natural killer cell mediated cytotoxicity  
Type I diabetes mellitus  
Transcriptional misregulation in cancer  
Autoimmune thyroid disease  
Allograft rejection  
Graft-versus-host disease  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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 Reference Evidence Score
AUTISTIC DISORDER — CTD, Disgenet
CTD, Disgenet 		18762240
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS — CTD 19446661
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VITILIGO — GWAS catalog 20410501, 27723757
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (337)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acanthosis Nigricans Acanthosis Nigricans BEFREE 31778856
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute encephalopathy Encephalopathy BEFREE 31709864
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 21886827
★★★★★
★☆☆☆☆
Found in Text Mining only
Addison Disease Addison`s Disease BEFREE 28223394
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27687306, 28522562
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis BEFREE 19456762
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia BEFREE 10620125
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia Areata Alopecia Areata BEFREE 10620125
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 36359827 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anodontia Anodontia Pubtator 28264871 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
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PRF1 6 shared pathwaysApoptosis, Natural killer cell mediated cytotoxicity, Type I diabetes mellitus, Autoimmune thyroid disease, Allograft rejection, Graft-versus-host disease Related via 6 shared pathways including Apoptosis, Natural killer cell mediated cytotoxicity. KIR2DL5A 2 shared pathwaysNatural killer cell mediated cytotoxicity, Graft-versus-host disease Related via 2 shared pathways including Natural killer cell mediated cytotoxicity, Graft-versus-host disease. CD86 5 shared pathwaysType I diabetes mellitus, Transcriptional misregulation in cancer, Autoimmune thyroid disease, Allograft rejection, Graft-versus-host disease Related via 5 shared pathways including Type I diabetes mellitus, Transcriptional misregulation in cancer. BCL2A1 2 shared pathwaysApoptosis, Transcriptional misregulation in cancer Related via 2 shared pathways including Apoptosis, Transcriptional misregulation in cancer. KIR2DL1 2 shared pathwaysNatural killer cell mediated cytotoxicity, Graft-versus-host disease Related via 2 shared pathways including Natural killer cell mediated cytotoxicity, Graft-versus-host disease.
Multiple sclerosis Linked via 2 of 5 related genesPRF1, CD86 Aplastic anemia Linked via 1 of 5 related genesPRF1 Autoinflammatory syndrome Linked via 1 of 5 related genesPRF1 Crohn disease Linked via 1 of 5 related genesPRF1 Hemophagocytic lymphohistiocytosis Linked via 1 of 5 related genesPRF1