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    GZMB granzyme B [ Homo sapiens (human) ]

    Gene ID: 3002, updated on 28-Oct-2024

    Summary

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    Official Symbol
    GZMBprovided by HGNC
    Official Full Name
    granzyme Bprovided by HGNC
    Primary source
    HGNC:HGNC:4709
    See related
    Ensembl:ENSG00000100453 MIM:123910; AllianceGenome:HGNC:4709
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C11; HLP; CCPI; CGL1; CSPB; SECT; CGL-1; CSP-B; CTLA1; CTSGL1
    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 generate the active protease, which induces target cell apoptosis. This protein also processes cytokines and degrades extracellular matrix proteins, and these roles are implicated in chronic inflammation and wound healing. Expression of this gene may be elevated in human patients with cardiac fibrosis. [provided by RefSeq, Sep 2016]
    Expression
    Biased expression in bone marrow (RPKM 19.1), lymph node (RPKM 15.2) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GZMB in Genome Data Viewer
    Location:
    14q12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24630954..24634190, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18829837..18833074, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (25100160..25103396, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:25074973-25075472 Neighboring gene cathepsin G Neighboring gene uncharacterized LOC105370413 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:25102775-25103974 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:25108089-25109288 Neighboring gene granzyme H Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8219 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:25142536-25143735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8221 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8222 Neighboring gene uncharacterized LOC124903293 Neighboring gene syntaxin binding protein 6 Neighboring gene uncharacterized LOC124903294

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Low expression of Granzyme B in colorectal cancer is associated with signs of early metastastic invasion. Salama P, et al. Histopathology, 2011 Aug. PMID 21884199
    2. Risk of generalized vitiligo is associated with the common 55R-94A-247H variant haplotype of GZMB (encoding granzyme B). Ferrara TM, et al. J Invest Dermatol, 2013 Jun. PMID 23321921, Free PMC Article
    3. Granzyme B cleavage of fibronectin disrupts endothelial cell adhesion, migration and capillary tube formation. Hendel A, et al. Matrix Biol, 2013 Jan. PMID 23228447
    4. CVID patients with autoimmunity have elevated T cell expression of granzyme B and HLA-DR and reduced levels of Treg cells. Carter CR, et al. J Clin Pathol, 2013 Feb. PMID 23172556
    5. Plasmodium falciparum-infected erythrocytes induce granzyme B by NK cells through expression of host-Hsp70. Böttger E, et al. PLoS One, 2012. PMID 22438997, Free PMC Article

    See all (337) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identifying the association between polymorphisms in the GZMB and IFIH1 genes and psoriasis in Egyptians.
      Title: Identifying the association between polymorphisms in the GZMB and IFIH1 genes and psoriasis in Egyptians.
    2. Granzyme B is elevated in esophageal biopsies from children with eosinophilic esophagitis.
      Title: Granzyme B is elevated in esophageal biopsies from children with eosinophilic esophagitis.
    3. Molecular and clinicopathological features of granzyme B-negative extranodal NK/T-cell lymphoma.
      Title: Molecular and clinicopathological features of granzyme B-negative extranodal NK/T-cell lymphoma.
    4. Does the expression of granzyme B participate in inflammation, fibrosis, and fertility of hydatid cysts?
      Title: Does the expression of granzyme B participate in inflammation, fibrosis, and fertility of hydatid cysts?
    5. NK cell-derived extracellular granzyme B drives epithelial ulceration during HSV-2 genital infection.
      Title: NK cell-derived extracellular granzyme B drives epithelial ulceration during HSV-2 genital infection.
    6. The mRNA expression and secretion of granzyme B are up-regulated via the histamine H2 receptor in human CD4[+] T cells.
      Title: The mRNA expression and secretion of granzyme B are up-regulated via the histamine H2 receptor in human CD4(+) T cells.
    7. Human granzyme B binds Plasmodium falciparum Hsp70-x and mediates antiplasmodial activity in vitro.
      Title: Human granzyme B binds Plasmodium falciparum Hsp70-x and mediates antiplasmodial activity in vitro.
    8. A robust gene prognostic index composed of GZMB, IRF1, and TP63 can stratify the risk of two metastatic urothelial carcinoma cohorts based on immune checkpoint blockade therapy.
      Title: A robust gene prognostic index composed of GZMB, IRF1, and TP63 can stratify the risk of two metastatic urothelial carcinoma cohorts based on immune checkpoint blockade therapy.
    9. Granzyme B Contributes to Choroidal Neovascularization and Age-Related Macular Degeneration Through Proteolysis of Thrombospondin-1.
      Title: Granzyme B Contributes to Choroidal Neovascularization and Age-Related Macular Degeneration Through Proteolysis of Thrombospondin-1.
    10. Clonally expanded, thyrotoxic effector CD8[+] T cells driven by IL-21 contribute to checkpoint inhibitor thyroiditis.
      Title: Clonally expanded, thyrotoxic effector CD8(+) T cells driven by IL-21 contribute to checkpoint inhibitor thyroiditis.
    Submit: New GeneRIF Correction See all GeneRIFs (262)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat-mediated granzyme B release is dose-dependent in primary human T cells PubMed
    Vif vif HIV-1 Vif upregulates the expression of granzyme B (GZMB, granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) in Vif-expression T cells PubMed
    capsid gag HIV-1 infected CCR5+ memory CD4+ T cells upregulate granzyme B and HIV-1 CA production and increase the ratio of granzyme B to CA compared to infected CCR5- cells PubMed
    gag Unactivated memory CD4+ T cells infected by HIV-1 in the presence of IL-2 and IL-15 alone or IL-6/IL-7/TNF-alpha combination, upregulate granzyme B and HIV-1 CA production PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables serine-type endopeptidase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables serine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables serine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables serine-type peptidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in granzyme-mediated programmed cell death signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in granzyme-mediated programmed cell death signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in killing of cells of another organism IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in natural killer cell mediated cytotoxicity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in natural killer cell mediated cytotoxicity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of translation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of establishment of protein localization to mitochondrion TAS
    Traceable Author Statement
    more info
    		  
    involved_in protein maturation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein maturation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteolysis involved in protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in pyroptotic inflammatory response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in pyroptotic inflammatory response TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in cytolytic granule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytolytic granule lumen TAS
    Traceable Author Statement
    more info
    		  
    is_active_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in immunological synapse TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    granzyme B
    Names
    T-cell serine protease 1-3E
    cathepsin G-like 1
    cytotoxic T-lymphocyte proteinase 2
    cytotoxic serine protease B
    fragmentin 2
    granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
    human lymphocyte protein
    NP_001332940.1
    NP_004122.2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028340.1 RefSeqGene

      Range
      5037..8273
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001346011.2 → NP_001332940.1  granzyme B isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, uses an alternate translation start site, and uses an alternate splice site in the 5' coding region compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus and lacks a predicted signal peptide compared to isoform 1.
      Source sequence(s)
      AY232654, BX283601, CB528665, HY088535
      Consensus CDS
      CCDS86381.1
      UniProtKB/TrEMBL
      J3KQ52, Q6XGZ4
      Related
      ENSP00000387385.3, ENST00000415355.7

    2. NM_004131.6 → NP_004122.2  granzyme B isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_004122.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AY372494, BX283601, CB528665
      Consensus CDS
      CCDS9633.1
      UniProtKB/Swiss-Prot
      P10144, Q8N1D2, Q9UCC1
      UniProtKB/TrEMBL
      Q6XGZ4
      Related
      ENSP00000216341.4, ENST00000216341.9
      Conserved Domains (2) summary
      smart00020
      Location:20 → 240
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:21 → 243
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

    RNA

    1. NR_144343.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AY232655, CB528665, HY088535
      Related
      ENST00000554242.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      24630954..24634190 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      18829837..18833074 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P10144.2 GenPept UniProtKB/Swiss-Prot:P10144

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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