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Aliases for GZMB Gene

Aliases for GZMB Gene

  • Granzyme B 2 3 3 5
  • T-Cell Serine Protease 1-3E 2 3 4
  • Cathepsin G-Like 1 2 3 4
  • Granzyme B (Granzyme 2, Cytotoxic T-Lymphocyte-Associated Serine Esterase 1) 2 3
  • Cytotoxic T-Lymphocyte Proteinase 2 3 4
  • Cytotoxic Serine Protease B 2 3
  • Human Lymphocyte Protein 3 4
  • Fragmentin 2 2 3
  • CTSGL1 3 4
  • CTLA1 3 4
  • CSPB 3 4
  • CGL1 3 4
  • SECT 3 4
  • C11 3 4
  • HLP 3 4
  • Cytotoxic T-Lymphocyte-Associated Serine Esterase 1 2
  • Lymphocyte Protease 4
  • Fragmentin-2 4
  • EC 3.4.21.79 4
  • Granzyme-2 4
  • Granzyme 2 2
  • CTLA-1 4
  • CGL-1 3
  • CSP-B 3
  • CCPI 3
  • GRB 4

External Ids for GZMB Gene

Previous HGNC Symbols for GZMB Gene

  • CTLA1
  • CSPB

Previous GeneCards Identifiers for GZMB Gene

  • GC14M022472
  • GC14M018887
  • GC14M023090
  • GC14M024170
  • GC14M025100
  • GC14M005214

Summaries for GZMB Gene

Entrez Gene Summary for GZMB 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 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]

GeneCards Summary for GZMB Gene

GZMB (Granzyme B) is a Protein Coding gene. Diseases associated with GZMB include Lymphocytic Gastritis and Natural Killer Cell Leukemia. Among its related pathways are NOTCH2 Activation and Transmission of Signal to the Nucleus and Allograft rejection. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity. An important paralog of this gene is GZMH.

UniProtKB/Swiss-Prot for GZMB Gene

  • This enzyme is necessary for target cell lysis in cell-mediated immune responses. It cleaves after Asp. Seems to be linked to an activation cascade of caspases (aspartate-specific cysteine proteases) responsible for apoptosis execution. Cleaves caspase-3, -7, -9 and 10 to give rise to active enzymes mediating apoptosis.

Tocris Summary for GZMB Gene

  • Caspases (cysteinyl aspartate proteases) are involved in the signaling pathways of apoptosis, necrosis and inflammation. These enzymes can be divided into initiators and effectors. The initiator isoforms are activated by, and interact with, upstream adaptor molecules.

Gene Wiki entry for GZMB Gene

Additional gene information for GZMB Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GZMB Gene

Genomics for GZMB Gene

GeneHancer (GH) Regulatory Elements for GZMB Gene

Promoters and enhancers for GZMB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J024630 Promoter/Enhancer 1.3 EPDnew ENCODE dbSUPER 650.7 +1.7 1741 4.5 SMARCE1 FOXA2 NFIA NFIB ZBTB21 DPF2 E4F1 FOXA1 ZNF217 CTBP1 GZMB CBLN3 GZMH ENSG00000258657
GH14J024672 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 34.5 -39.9 -39883 2.9 STAT5A EBF1 BATF IRF4 RELA FOSL1 POLR2A NFATC1 EED ETV6 GZMB GZMH CTSG STXBP6 CMA1 CIDEB LTB4R RIPK3 TINF2 KHNYN
GH14J024692 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 23.5 -60.2 -60154 3.5 PKNOX1 ARNT NFRKB YBX1 BMI1 PLRG1 ATF7 ETV6 BCLAF1 IKZF2 RNA5SP383 GZMB KHNYN ENSG00000259321 TM9SF1 RNF31 CIDEB TINF2 NYNRIN NFATC4
GH14J024677 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 17.1 -45.5 -45490 4 FOXA2 MLX ARID4B ZNF2 ZNF48 YY1 SLC30A9 ZNF213 ZNF143 RUNX3 GZMH GZMB STXBP6 CTSG CIDEB KHNYN CMA1 RIPK3 LOC105370413 PIR50915
GH14J024670 Enhancer 0.5 FANTOM5 dbSUPER 30.6 -36.8 -36789 0.4 GZMB GZMH CTSG CMA1 LOC105370413 PIR50915
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GZMB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GZMB gene promoter:
  • deltaCREB
  • CREB
  • STAT5A
  • AML1a

Genomic Locations for GZMB Gene

Genomic Locations for GZMB Gene
chr14:24,630,948-24,634,267
(GRCh38/hg38)
Size:
3,320 bases
Orientation:
Minus strand
chr14:25,100,160-25,103,473
(GRCh37/hg19)
Size:
3,314 bases
Orientation:
Minus strand

Genomic View for GZMB Gene

Genes around GZMB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GZMB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GZMB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GZMB Gene

Proteins for GZMB Gene

  • Protein details for GZMB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10144-GRAB_HUMAN
    Recommended name:
    Granzyme B
    Protein Accession:
    P10144
    Secondary Accessions:
    • Q8N1D2
    • Q9UCC1

    Protein attributes for GZMB Gene

    Size:
    247 amino acids
    Molecular mass:
    27716 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for GZMB Gene

neXtProt entry for GZMB Gene

Post-translational modifications for GZMB Gene

  • Glycosylation at isoforms=104 and Asn71
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GZMB Gene

Domains & Families for GZMB Gene

Gene Families for GZMB Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for GZMB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P10144

UniProtKB/Swiss-Prot:

GRAB_HUMAN :
  • Belongs to the peptidase S1 family. Granzyme subfamily.
Family:
  • Belongs to the peptidase S1 family. Granzyme subfamily.
genes like me logo Genes that share domains with GZMB: view

Function for GZMB Gene

Molecular function for GZMB Gene

UniProtKB/Swiss-Prot Function:
This enzyme is necessary for target cell lysis in cell-mediated immune responses. It cleaves after Asp. Seems to be linked to an activation cascade of caspases (aspartate-specific cysteine proteases) responsible for apoptosis execution. Cleaves caspase-3, -7, -9 and 10 to give rise to active enzymes mediating apoptosis.
UniProtKB/Swiss-Prot CatalyticActivity:
Preferential cleavage: -Asp- -Xaa- >> -Asn- -Xaa- > -Met- -Xaa-, -Ser- -Xaa-.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inactivated by the serine protease inhibitor diisopropylfluorophosphate.
UniProtKB/Swiss-Prot Induction:
By staphylococcal enterotoxin A (SEA) in peripheral blood leukocytes.
GENATLAS Biochemistry:
cytotoxic T-lymphocyte-associated granule serine protease 1,also expressed in lymphokine activated killer (LAK) and natural killer (NK) cells (cathepsin G-like 1) (see SPAS@)

Enzyme Numbers (IUBMB) for GZMB Gene

Phenotypes From GWAS Catalog for GZMB Gene

Gene Ontology (GO) - Molecular Function for GZMB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA,TAS 12524539
GO:0005515 protein binding IPI 11911826
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity TAS,IEA 2402757
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with GZMB: view
genes like me logo Genes that share phenotypes with GZMB: view

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GZMB Gene

Localization for GZMB Gene

Subcellular locations from UniProtKB/Swiss-Prot for GZMB Gene

Cytoplasmic granule. Note=Cytoplasmic granules of cytolytic T-lymphocytes and natural killer cells.

Subcellular locations from

COMPARTMENTS
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 GZMB gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
extracellular 4
mitochondrion 3
lysosome 2
cytoskeleton 1
endosome 1

Gene Ontology (GO) - Cellular Components for GZMB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001772 immunological synapse TAS 12524539
GO:0005634 nucleus TAS 11909973
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with GZMB: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GZMB Gene

Pathways & Interactions for GZMB Gene

genes like me logo Genes that share pathways with GZMB: view

SIGNOR curated interactions for GZMB Gene

Activates:

Gene Ontology (GO) - Biological Process for GZMB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006915 apoptotic process TAS 12524539
GO:0008626 granzyme-mediated apoptotic signaling pathway IBA,IEA --
GO:0016485 protein processing IBA --
GO:0019835 cytolysis IEA --
genes like me logo Genes that share ontologies with GZMB: view

Drugs & Compounds for GZMB Gene

(36) Drugs for GZMB Gene - From: HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2906
mannose Investigational Pharma 0
Ac-IEPD-AFC Pharma Recognition motif for serine protease granzyme B 0
Granzyme B Inhibitor Z-AAD-CH2Cl Pharma Cell-permeable and irreversible granzyme B inhibitor 0
Apoptosis Activator 2 Pharma Indoledione caspase activator, cell-permeable, Promotes apoptosome formation and activates caspase-9/caspase-3 pathway. Selectively induces tumor cell apoptosis 0

(30) Additional Compounds for GZMB Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PAC 1
315183-21-2

(4) Tocris Compounds for GZMB Gene

Compound Action Cas Number
Apoptosis Activator 2 Promotes apoptosome formation and activates caspase-9/caspase-3 pathway. Selectively induces tumor cell apoptosis 79183-19-0
Cisplatin Potent pro-apoptotic anticancer agent; activates caspase-3 15663-27-1
PAC 1 Activator of procaspase-3; pro-apoptotic 315183-21-2
PETCM Activator of caspase-3 10129-56-3
genes like me logo Genes that share compounds with GZMB: view

Transcripts for GZMB Gene

mRNA/cDNA for GZMB Gene

Unigene Clusters for GZMB Gene

Granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GZMB Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c
SP1: -
SP2:
SP3: - -

Relevant External Links for GZMB Gene

GeneLoc Exon Structure for
GZMB
ECgene alternative splicing isoforms for
GZMB

Expression for GZMB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GZMB Gene

mRNA differential expression in normal tissues according to GTEx for GZMB Gene

This gene is overexpressed in Whole Blood (x42.2).

Protein differential expression in normal tissues from HIPED for GZMB Gene

This gene is overexpressed in NK cells (24.3), Blymphocyte (23.3), Peripheral blood mononuclear cells (11.3), and CD8 Tcells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GZMB Gene



Protein tissue co-expression partners for GZMB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GZMB Gene:

GZMB

SOURCE GeneReport for Unigene cluster for GZMB Gene:

Hs.1051

Evidence on tissue expression from TISSUES for GZMB Gene

  • Blood(4.7)
  • Pancreas(4.2)
  • Lymph node(3.5)
  • Spleen(3.5)
  • Bone marrow(2.8)
  • Intestine(2.4)
  • Lung(2.4)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with GZMB: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GZMB Gene

Orthologs for GZMB Gene

This gene was present in the common ancestor of mammals.

Orthologs for GZMB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GZMB 34 33
  • 98.65 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GZMB 34 33
  • 79.64 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gzmbl2 33
  • 77.25 (n)
dog
(Canis familiaris)
Mammalia GZMB 34 33
  • 76.75 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gzmb 34
  • 68 (a)
OneToMany
Gzmc 34
  • 60 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 56 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 49 (a)
OneToMany
Species where no ortholog for GZMB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for GZMB Gene

ENSEMBL:
Gene Tree for GZMB (if available)
TreeFam:
Gene Tree for GZMB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GZMB: view image

Paralogs for GZMB Gene

Paralogs for GZMB Gene

(54) SIMAP similar genes for GZMB Gene using alignment to 7 proteins:

  • GRAB_HUMAN
  • E7EUV0_HUMAN
  • E9PID1_HUMAN
  • E9PLX4_HUMAN
  • E9PRD7_HUMAN
  • J3KPK2_HUMAN
  • J3KQ52_HUMAN
genes like me logo Genes that share paralogs with GZMB: view

Variants for GZMB Gene

Sequence variations from dbSNP and Humsavar for GZMB Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000952534 -- 24,633,324(-) C/A/T intron_variant
rs1000984724 -- 24,632,267(-) A/G intron_variant
rs1001102790 -- 24,632,545(-) GGG/GG intron_variant
rs1001249318 -- 24,630,862(-) G/T downstream_transcript_variant
rs1001575818 -- 24,630,518(-) G/A downstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv2748495 CNV deletion 23290073
nsv510631 CNV deletion 20534489

Variation tolerance for GZMB Gene

Residual Variation Intolerance Score: 57.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.33; 85.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GZMB Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GZMB Gene

MalaCards: The human disease database

(49) MalaCards diseases for GZMB Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GZMB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GZMB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GZMB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GZMB Gene

Publications for GZMB Gene

  1. Disparate distribution of 16 candidate single nucleotide polymorphisms among racial and ethnic groups of pediatric heart transplant patients. (PMID: 17198275) Girnita DM … Zeevi A (Transplantation 2006) 3 22 44 58
  2. The three-dimensional structure of human granzyme B compared to caspase-3, key mediators of cell death with cleavage specificity for aspartic acid in P1. (PMID: 11325591) Rotonda J … Becker JW (Chemistry & biology 2001) 3 4 22 58
  3. Crystal structure of the caspase activator human granzyme B, a proteinase highly specific for an Asp-P1 residue. (PMID: 11209755) Estébanez-Perpiña E … Bode W (Biological chemistry 2000) 3 4 22 58
  4. Isolation of a cDNA clone encoding a novel form of granzyme B from human NK cells and mapping to chromosome 14. (PMID: 2323780) Dahl CA … Cairns JS (Human genetics 1990) 2 3 4 58
  5. Nucleotide sequence and genomic organization of a human T lymphocyte serine protease gene. (PMID: 2365998) Caputo A … Rowe PB (Journal of immunology (Baltimore, Md. : 1950) 1990) 3 4 22 58

Products for GZMB Gene

Sources for GZMB Gene

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