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GZMB Gene

protein-coding   GIFtS: 69
GCID: GC14M025100

Granzyme B (Granzyme 2, Cytotoxic T-Lymphocyte-Associated...


(Previous symbols: CTLA1, CSPB)
  See GZMB-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Granzyme B (Granzyme 2, Cytotoxic T-Lymphocyte-Associated Serine
Esterase 1)1 2
     HLP2 3
CSPB1 2 3 5     SECT2 3
CTLA11 2 3 5     EC 3.4.21.793 8
T-Cell Serine Protease 1-3E1 2 3     CCPI2
Cathepsin G-Like 11 2 3     CGL-12
Cytotoxic Serine Protease B1 2     CSP-B2
Fragmentin 21 2     fragmentin-22
Cytotoxic T-Lymphocyte Proteinase 22 3     Granzyme B2
Human Lymphocyte Protein2 3     Fragmentin-23
C112 3     GRB3
CGL12 3     Granzyme-23
CTLA-12 3     Lymphocyte Protease3
CTSGL12 3     EC 3.4.218

External Ids:    HGNC: 47091   Entrez Gene: 30022   Ensembl: ENSG000001004537   OMIM: 1239105   UniProtKB: P101443   

Export aliases for GZMB gene to outside databases

Previous GC identifers: GC14M022472 GC14M018887 GC14M023090 GC14M024170 GC14M005214


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GZMB Gene:
Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and
lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface
'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein
encoded by this gene is crucial for the rapid induction of target cell apoptosis by CTL in cell-mediated immune
response. (provided by RefSeq, Jul 2008)

GeneCards Summary for GZMB Gene:
GZMB (granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)) is a protein-coding gene. Diseases associated with GZMB include peripheral t-cell lymphoma, and subcutaneous panniculitis-like t-cell lymphoma. GO annotations related to this gene include serine-type peptidase activity and serine-type endopeptidase activity. An important paralog of this gene is GZMH.

UniProtKB/Swiss-Prot: GRAB_HUMAN, P10144
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

summary for GZMB Gene:
Caspases (short for 'cysteinyl aspartate proteases') are involved in the signal transduction pathways of
apoptosis, necrosis and inflammation. These enzymes can be divided into two major classes - initiators and
effectors. The initiator isoforms (caspases-1,-4,-5,-8,-9,-10,-11,-12) are activated by, and interact with,
upstream adaptor molecules through protein-protein interaction domains known as CARD and DED. Effector
caspases (-3,-6,-7) are responsible for cleaving downstream substrates and are sometimes referred to as the
executioner caspases. More than 400 caspase substrates have so far been identified (see The Caspase
Substrate Database). Initiator caspases, such as caspase 8, may be directly activated by death receptors
such as FasR. Caspases can also be found intracellularly as part of large multiprotein complexes. For
example, caspase 9 is recruited to the apoptosome formed during apoptosis, whilst caspases-1 and 5 can form
part of the inflammasome, a key part of cytokine processing during inflammation. Caspases are regulated by
inhibitors of apoptosis and by dominant negative isoforms. They have been implicated in the pathogenesis of
many disorders including stroke, Alzheimer's disease, myocardial infarction, cancer, and inflammatory
disease.

Gene Wiki entry for GZMB Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the GZMB gene promoter:
         CREB   AML1a   deltaCREB   STAT5A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGZMB promoter sequence
   Search Chromatin IP Primers for GZMB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GZMB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q11.2   Ensembl cytogenetic band:  14q12   HGNC cytogenetic band: 14q11.2

GZMB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GZMB gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M025100:  view genomic region     (about GC identifiers)

Start:
25,100,160 bp from pter      End:
25,103,473 bp from pter
Size:
3,314 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GRAB_HUMAN, P10144 (See protein sequence)
Recommended Name: Granzyme B precursor  
Size: 247 amino acids; 27716 Da
2 PDB 3D structures from and Proteopedia for GZMB:
1FQ3 (3D)        1IAU (3D)    
Secondary accessions: Q8N1D2 Q9UCC1

Explore the universe of human proteins at neXtProt for GZMB: NX_P10144

Explore proteomics data for GZMB at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn71, Asn104
  • Selected DME Specific Peptides for GZMB (P10144) (see all 7)
     GDSGGPL  VLTAAHC  VTLGAHN  SGGPLVC 


    See GZMB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004122.2  
    ENSEMBL proteins: 
     ENSP00000387385   ENSP00000216341   ENSP00000432074   ENSP00000450535   ENSP00000435084  
     ENSP00000434213   ENSP00000371982   ENSP00000371980  
    Reactome Protein details: P10144

    GZMB Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for GZMB
    OriGene Custom MassSpec
    OriGene Custom Protein Services for GZMB
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    Novus Biologicals GZMB Proteins
    Novus Biologicals GZMB Lysates
    Sino Biological Recombinant Protein for GZMB
    Sino Biological Cell Lysate for GZMB
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GZMB

     
    Search eBioscience for Proteins for GZMB 

    GZMB Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of GZMB
    R&D Systems Antibodies for GZMB (Granzyme B)
    Cell Signaling Technology (CST) Antibodies for GZMB 
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    Abcam antibodies for GZMB
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    ThermoFisher Antibody for GZMB
    LSBio Antibodies in human, mouse, rat for GZMB

    GZMB Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Enzo Life Sciences assays for GZMB
    Cloud-Clone Corp. ELISAs for GZMB
    Cloud-Clone Corp. CLIAs for GZMB
    eBioscience ELISAs for GZMB: (see all 2
                        Human Granzyme B ELISPOT Ready-SET-Go! 2 x 96 tests


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR001314 Peptidase_S1A
     IPR001254 Peptidase_S1
     IPR018114 Peptidase_S1_AS
     IPR009003 Trypsin-like_Pept_dom

    Graphical View of Domain Structure for InterPro Entry P10144

    ProtoNet protein and cluster: P10144

    2 Blocks protein domains:
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature


    UniProtKB/Swiss-Prot: GRAB_HUMAN, P10144
    Similarity: Belongs to the peptidase S1 family. Granzyme subfamily
    Similarity: Contains 1 peptidase S1 domain


    Find genes that share domains with GZMB           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GRAB_HUMAN, P10144
    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
    Catalytic activity: Preferential cleavage: -Asp- -Xaa- >> -Asn- -Xaa- > -Met- -Xaa-, -Ser- -Xaa-
    Enzyme regulation: Inactivated by the serine protease inhibitor diisopropylfluorophosphate
    Induction: By staphylococcal enterotoxin A (SEA) in peripheral blood leukocytes

         Genatlas biochemistry entry for GZMB:
    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): EC 3.4.21.791 2 EC 3.4.212

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity TAS12524539
    GO:0005515protein binding IPI11911826
    GO:0008236serine-type peptidase activity TAS2402757
         
    Find genes that share ontologies with GZMB           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Gzmb):
     cellular  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 
     tumorigenesis 

    Find genes that share phenotypes with GZMB           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GZMB: Gzmbtm2.1Ley Gzmbtm2Ley Gzmbtm1Ley

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GZMB
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GZMB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GZMB
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GZMB

    miRNA
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GZMB

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GZMB

    Clone
    Products:
         
    OriGene clones in human, mouse for GZMB (see all 6)
    OriGene ORF clones in mouse, rat for GZMB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GZMB (NM_004131)
    Sino Biological Human cDNA Clone for GZMB
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GZMB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GZMB

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for GZMB 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GZMB


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GRAB_HUMAN, P10144: Cytoplasmic granule. Note=Cytoplasmic granules of cytolytic T-lymphocytes and natural killer
    cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane5
    cytosol4
    extracellular3
    lysosome2
    mitochondrion2
    vacuole2
    cytoskeleton1
    endosome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001772immunological synapse TAS12524539
    GO:0005634nucleus TAS11909973
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0030141secretory granule IBA--

    Find genes that share ontologies with GZMB           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GZMB About   (see all 20)  
    See pathways by source

    SuperPathContained pathways About
    1Allograft rejection
    Allograft rejection0.86
    Graft-versus-host disease0.65
    Allograft Rejection0.86
    Autoimmune thyroid disease0.61
    Type I diabetes mellitus0.69
    CTL Mediated Apoptosis0.38
    2Activation of BH3-only proteins
    Intrinsic Pathway for Apoptosis0.68
    Activation, myristolyation of BID and translocation to mitochondria0.00
    3Signaling by NOTCH2
    Signaling by NOTCH20.67
    NOTCH2 intracellular domain regulates transcription0.00
    4Granzyme Pathway
    Granzyme Pathway
    Granzyme-B Pathway0.00
    5Signaling by NOTCH1 PEST Domain Mutants in Cancer
    Signaling by NOTCH0.64


    Find genes that share SuperPaths with GZMB           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for GZMB
        IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types
    IL-15 Signaling and its Primary Biological Effects in Different Immune Cell Types

    5 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GZMB
        Caspase Cascade
    Granzyme-B Pathway
    RhoGDI Pathway
    Granzyme Pathway
    CTL Mediated Apoptosis

    2 Cell Signaling Technology (CST) Pathways for GZMB
        Apoptosis and Autophagy
    Lymphocyte Signaling

    Selected BioSystems Pathways for GZMB (see all 6)
        Apoptosis
    Allograft Rejection
    Oxidative phosphorylation
    Caspase cascade in apoptosis
    IL12-mediated signaling events


    2 Reactome Pathways for GZMB
        Activation, myristolyation of BID and translocation to mitochondria
    NOTCH2 intracellular domain regulates transcription


    Selected Kegg Pathways  (Kegg details for GZMB) (see all 6):
        Natural killer cell mediated cytotoxicity
    Type I diabetes mellitus
    Transcriptional misregulation in cancer
    Autoimmune thyroid disease
    Allograft rejection

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GZMB: 
              T-Cell Anergy & Immune Tolerance in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GZMB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GZMB (P101441, 2, 3 ENSP000002163414) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SRGNP101241, 3, ENSP000002424654EBI-2505785,EBI-744915 I2D: score=4 STRING: ENSP00000242465
    PRF1P142221, 3EBI-2505785,EBI-724466 I2D: score=3 
    ELANEP082462, 3, ENSP000002636214MINT-6803398 I2D: score=1 STRING: ENSP00000263621
    CASP3P425743, ENSP000003110324I2D: score=4 STRING: ENSP00000311032
    PRKDCP785273, ENSP000003134204I2D: score=3 STRING: ENSP00000313420
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IBA--
    GO:0006915apoptotic process TAS12524539
    GO:0007219Notch signaling pathway TAS--
    GO:0008626granzyme-mediated apoptotic signaling pathway IBA--
    GO:0019835cytolysis IEA--

    Find genes that share ontologies with GZMB           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for GZMB
      Browse compounds at ApexBio 

    Compounds for GZMB available from Tocris Bioscience    About this table
    CompoundAction CAS #
    AZ 10417808Selective non-peptide caspase-3 inhibitor[331645-84-2]
    Z-DQMD-FMKCaspase-3 inhibitor--
    CisplatinPotent pro-apoptotic anticancer agent; activates caspase-3[15663-27-1]
    Z-DEVD-FMK Cell-permeable, irreversible caspase-3 inhibitor --
    Z-VAD-FMK Cell-permeable, irreversible caspase inhibitor [187389-52-2]

    1 DrugBank Compound for GZMB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Alpha-D-Mannose-- 3458-28-4target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for GZMB gene (see all 59)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 70.6 111 11562487 (2), 12792516 (2), 8626751 (2), 8601703 (2) (see all 80)
    concanamycin a 68.1 3 12199864 (1), 11502983 (1)
    [alcl] 67.6 8 10396241 (2), 11237071 (1), 18323280 (1), 9028330 (1) (see all 7)
    3,4-dichloroisocoumarin 59.7 3 8760815 (1), 9036942 (1)
    itcl 58 2 9349234 (2)
    mannose 6-phosphate 41.6 14 16280358 (5), 18220730 (1), 15528317 (1), 11081635 (1) (see all 6)
    ponasterone a 38.3 1 15367364 (1)
    clostripain 35.5 1 14697268 (1)
    z-vad-fmk 34.1 1 11050075 (1)
    cysteine 25.9 16 8631895 (2), 11278459 (1), 15029525 (1), 8663294 (1) (see all 13)



    Find genes that share compounds with GZMB           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GZMB gene: 
    NM_004131.4  

    Unigene Cluster for GZMB:

    Granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
    Hs.1051  [show with all ESTs]
    Unigene Representative Sequence: BQ052893
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000415355 ENST00000216341(uc001wps.2 uc010ama.2 uc010amb.2)
    ENST00000532263 ENST00000554242 ENST00000530830 ENST00000526004 ENST00000382542
    ENST00000382540
    miRNA
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    GenScript: all cDNA clones in your preferred vector: GZMB (NM_004131)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GZMB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GZMB
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for GZMB
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GZMB
      QuantiTect SYBR Green Assays in human, mouse, rat GZMB
      QuantiFast Probe-based Assays in human, mouse, rat GZMB

    Additional mRNA sequence: 

    AY232655.1 AY232656.1 AY372494.1 BC030195.1 J03189.1 J04071.1 

    3 DOTS entries:

    DT.410314  DT.97839362  DT.95233859 

    Selected AceView cDNA sequences (see all 48):

    BE502328 BI909392 J03189 BM917944 BC030195 AW817157 BM561748 AY372494 
    BQ012224 BI833067 CF528868 BU603175 J04071 BE502557 NM_004131 BM923149 
    BM987823 CB528665 AY232654 AW960218 BI836851 BU600317 BI832941 AI652790 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for GZMB    About this scheme

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


    ECgene alternative splicing isoforms for GZMB

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    GZMB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAACGCTACT
    GZMB Expression
    About this image


    GZMB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 6 entries
             Plasmacytoid Dendritic cells Peripheral Blood
             Peripheral blood Pan-T Cells   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Cord Blood CD133- Cells   
     
     Thymus (Hematopoietic System)    fully expand to see all 2 entries
             T Helper Cells Thymus
             Thymus
     
     Bone (Muscoskeletal System)
             Bone Marrow
    GZMB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GZMB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1051
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GZMB: 
              T-Cell Anergy & Immune Tolerance in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for GZMB gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gzmb5 granzyme B   --   14 (28.19 cM) 56258856 


    ENSEMBL Gene Tree for GZMB (if available)
    TreeFam Gene Tree for GZMB (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GZMB gene
    GZMH2  PRTN32  GZMK2  PRSS572  CTSG2  CFD2  ELANE2  CMA12  
    AZU12  GZMM2  GZMA2  
    Selected SIMAP similar genes for GZMB using alignment to 7 protein entries:     GRAB_HUMAN (see all proteins) (see all similar genes):
    GZMH    CTSG    CMA1    GZMA    KLK4    KLK8
    KLK5    GZMK    KLK14    CTRB1    ELANE    KLK1
    AZU1    CFD    DF    PRSS1    PRSS57    TMPRSS15

    Find genes that share paralogs with GZMB           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GZMB (see all 172)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1927066541,2
    --6097102(+) GATCAC/GTGTGG 1 -- ds50010--------
    rs81929221,2
    C,F,H--6097187(-) AGCTCG/ATCCTC 1 -- ds50019Minor allele frequency- A:0.05NS EA NA WA 778
    rs1152961441,2
    C,F--6097279(+) CCATGG/ATATTA 1 -- ds50011Minor allele frequency- A:0.03WA 118
    rs81929211,2
    C,F,H--6097337(-) GGCTTT/AGGGTA 1 -- ds500114Minor allele frequency- A:0.21NS EA NA WA CSA 790
    rs81929201,2
    C,F,H--6097409(-) CCAGGG/TCCTGC 1 -- ds500124Minor allele frequency- T:0.29NA NS EA CSA WA 2486
    rs799918301,2
    C--6097525(+) TGTCAC/TTGGCC 1 -- ds50010--------
    rs1432477991,2
    C--6097538(+) CATAGC/TGCAGA 1 -- ds50010--------
    rs81929191,2
    C,F,A--6097539(-) ATCTGC/TGCTAT 1 -- ds500111Minor allele frequency- T:0.16NA CSA WA EA 510
    rs1855937771,2
    --6097576(+) AATAAA/CCAAGA 1 -- ds50010--------
    rs1904990231,2
    C--6097658(+) TGGCTC/TCAGAG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for GZMB (25100160 - 25103473 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for GZMB:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2748495CNV Deletion23290073
    nsv901502CNV Loss21882294
    nsv510631CNV Loss20534489

    Human Gene Mutation Database (HGMD): GZMB
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GZMB
    DNA2.0 Custom Variant and Variant Library Synthesis for GZMB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 123910    OMIM disorders: --

    17 diseases for GZMB:    
    About MalaCards
    peripheral t-cell lymphoma    subcutaneous panniculitis-like t-cell lymphoma    keratoacanthoma    rasmussen encephalitis
    alopecia areata    panniculitis    composite lymphoma    cowpox
    toxic epidermal necrolysis    stevens-johnson syndrome    giardiasis    lymphomatoid papulosis
    exanthem    anaplastic large cell lymphoma    cervical intraepithelial neoplasia    alopecia
    myocardial infarction

    5 diseases from the University of Copenhagen DISEASES database for GZMB:
    Lymphoma     Hemophagocytic lymphohistiocytosis     Influenza     Skin disease
    Hypersensitivity reaction type II disease

    Find genes that share disorders with GZMB           About GenesLikeMe

    Selected Novoseek inferred disease relationships for GZMB gene (see all 93)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lymphoma t-cell 77.2 15 17260002 (3), 9349234 (1), 12688326 (1), 9409191 (1) (see all 11)
    lymphoma t-cell peripheral 71.8 1 16160469 (1)
    anaplastic large cell lymphoma 67.9 1 18324919 (1)
    tumors 57.6 129 11413524 (3), 16497444 (3), 15843372 (2), 16452233 (2) (see all 92)
    lymphoma 57.6 51 11413524 (5), 9409191 (3), 14616965 (2), 10368677 (2) (see all 30)
    toxic epidermal necrolysis 52.6 2 18409354 (1), 17008937 (1)
    lymphomatoid papulosis 50.1 3 10672058 (1), 10233858 (1), 9347791 (1)
    stevens-johnson syndrome 50 2 18409354 (1), 17008937 (1)
    necrosis 46.9 48 9250156 (2), 17260002 (2), 17258890 (2), 15855326 (1) (see all 42)
    lymphoma large cell 45.4 3 10492036 (1), 14712286 (1)

    Genetic Association Database (GAD): GZMB
    Human Genome Epidemiology (HuGE) Navigator: GZMB (13 documents)

    Export disorders for GZMB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GZMB gene, integrated from 10 sources (see all 883):
    (articles sorted by number of sources associating them with GZMB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of a cDNA clone encoding a novel form of granzyme B from human NK cells and mapping to chromosome 14. (PubMed id 2323780)1, 2, 3 Dahl C.A.... Cairns J.S. (Hum. Genet. 1990)
    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. (PubMed id 11325591)1, 2, 9 Rotonda J.... Becker J.W. (Chem. Biol. 2001)
    3. Crystal structure of the caspase activator human granzyme B, a proteinase highly specific for an Asp-P1 residue. (PubMed id 11209755)1, 2, 9 Estebanez-Perpina E.... Bode W. (Biol. Chem. 2000)
    4. Nucleotide sequence and genomic organization of a human T lymphocyte serine protease gene. (PubMed id 2365998)1, 2, 9 Caputo A.... Rowe P.B. (J. Immunol. 1990)
    5. Defective gammadelta T-cell function and granzyme B gene polymorphism in a cohort of newly diagnosed breast cancer patients. (PubMed id 19446661)1, 4, 9 Gaafar A....Al-Hussein K. (Exp. Hematol. 2009)
    6. Disparate distribution of 16 candidate single nucleotide polymorphisms among racial and ethnic groups of pediatric heart transplant patients. (PubMed id 17198275)1, 4, 9 Girnita D.M....Zeevi A. (Transplantation 2006)
    7. Interleukin-9 polymorphism in infants with respiratory syncytial virus infection: an opposite effect in boys and girls. (PubMed id 20503287)1, 4 Schuurhof A....Janssen R. (Pediatr. Pulmonol. 2010)
    8. The IFNG (IFN-gamma) genotype predicts cytogenetic and molecular response to imatinib therapy in chronic myeloid leukemia. (PubMed id 20959405)1, 4 Kim D.H....Lipton J.H. (Clin. Cancer Res. 2010)
    9. Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. (PubMed id 20410501)1, 4 Jin Y....Spritz R.A. (N. Engl. J. Med. 2010)
    10. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3002 HGNC: 4709 AceView: GZMB Ensembl:ENSG00000100453 euGenes: HUgn3002
    ECgene: GZMB Kegg: 3002 H-InvDB: GZMB

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GZMB Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GZMB gene:
    Search GeneIP for patents involving GZMB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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