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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GZMB Gene

protein-coding   GIFtS: 67
GCID: GC14M025100

granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated...


(Previous symbols: CTLA1, CSPB)
 Explore 137 diseases affiliated with
GZMB via our new
 Human Malady Compendium 
Biological research products
for GZMB
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Granzyme B (Granzyme 2, Cytotoxic T-Lymphocyte-Associated Serine Esterase
1)1 2
     C112 3
CSPB1 2 3 5     CTLA-12 3
CTLA11 2 3 5     T-Cell Serine Protease 1-3E2 3
CGL11 2 3     EC 3.4.21.793 8
CTSGL11 2 3     Cytotoxic Serine Protease B2
HLP1 2 3     Fragmentin 22
SECT1 2 3     Fragmentin-23
CCPI1 2     Granzyme B2
CGL-11 2     Fragmentin-23
CSP-B1 2     GRB3
Cathepsin G-Like 12 3     Granzyme-23
Cytotoxic T-Lymphocyte Proteinase 22 3     Lymphocyte Protease3
Human Lymphocyte Protein2 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GZMB:
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)

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:
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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GZMB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GRAB_HUMAN, P10144 (See protein sequence)
Recommended Name: Granzyme B precursor  
Size: 247 amino acids; 27716 Da
Subcellular location: Cytoplasmic granule. Note=Cytoplasmic granules of cytolytic T-lymphocytes and natural killer
cells
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P10144

  • 4/7 DME Specific Peptides for GZMB (P10144) (see all 7)
     GDSGGPL  VLTAAHC  VTLGAHN  SGGPLVC 

    GZMB Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004122.2  
    ENSEMBL proteins: 
     ENSP00000387385   ENSP00000216341   ENSP00000432074   ENSP00000450535   ENSP00000435084  
     ENSP00000434213   ENSP00000371982   ENSP00000371980  
    Reactome Protein details: P10144
    Human Recombinant Protein Products: 
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    Novus Biologicals GZMB Proteins
    Novus Biologicals GZMB Lysates
    Sino Biological Recombinant Protein for GZMB
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for GZMB

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001772immunological synapse TAS12524539
    GO:0005634nucleus TAS11909973
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0043231intracellular membrane-bounded organelle IDA--


    GZMB for ontologies           About GeneDecksing



    GZMB Antibody Products: 
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    Novus Biologicals GZMB Antibodies
    Abcam antibodies for GZMB 
    Uscn Antibodies for GZMB
    ThermoFisher Antibodies for GZMB

    Assay Products for GZMB: 
    Browse Kits and Assays available from EMD Millipore
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    Enzo Life Sciences assays for GZMB
    Uscn ELISAs and CLIAs for GZMB


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    GZMB for domains           About GeneDecksing

    4 InterPro domains/families:
     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 families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

    miRNA
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    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GZMB

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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GZMB

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252serine-type endopeptidase activity TAS12524539
    GO:0005515protein binding IPI11911826
    GO:0008236serine-type peptidase activity TAS2402757


    GZMB for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for GZMB: Gzmbtm2.1Ley Gzmbtm2Ley Gzmbtm1Ley
         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Gzmb):
     cellular  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 
     tumorigenesis 

    GZMB for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/16 super-pathways (see all 16About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Allograft rejection
    Allograft rejection1.00
    Autoimmune thyroid disease0.60
    Type I diabetes mellitus0.67
    CTL Mediated Apoptosis0.38
    Graft-versus-host disease0.63
    2Granzyme Pathway
    Granzyme Pathway1.00
    Granzyme-B Pathway0.42
    3Lymphocyte Signaling
    Lymphocyte Signaling1.00
    4Apoptosis and Autophagy
    Apoptosis and Autophagy1.00
    5Activation, myristolyation of BID and translocation to mitochondria
    Activation, myristolyation of BID and translocation to mitochondria1.00

    Pathway sources
    See GeneCards unified pathways
    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 QIAGEN 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

    4 BioSystems Pathways for GZMB 
        Apoptosis
    IL12-mediated signaling events
    Downstream signaling in naive CD8+ T cells
    Caspase cascade in apoptosis

    3        Reactome Pathways for GZMB
        Activation, myristolyation of BID and translocation to mitochondria
    Intrinsic Pathway for Apoptosis
    Apoptosis


    5         Kegg Pathways  (Kegg details for GZMB):
        Natural killer cell mediated cytotoxicity
    Type I diabetes mellitus
    Autoimmune thyroid disease
    Allograft rejection
    Graft-versus-host disease


    GZMB for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GZMB

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

    5/57 Interacting proteins for GZMB (P101441, 2, 3 ENSP000002163414) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SRGNP101241, 3, ENSP000002424654EBI-2505785,EBI-744915 I2D: score=4 STRING: ENSP00000242465
    PRF1P142221, 3, ENSP000003167464EBI-2505785,EBI-724466 I2D: score=3 STRING: ENSP00000316746
    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): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0006915apoptotic process TAS--
    GO:0006922cleavage of lamin involved in execution phase of apoptosis IDA11331782
    GO:0008633activation of pro-apoptotic gene products ----
    GO:0019835cytolysis IEA--


    GZMB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GZMB for compounds           About GeneDecksing

    EMD Millipore small molecules for GZMB:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for GZMB

    Compounds for GZMB available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Ac-IEPD-AFCFluorogenic granzyme B substrate--

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

    10/59 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about GZMB / GRAB 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    Additional cDNA sequence: 

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

    3 DOTS entries:

    DT.410314  DT.97839362  DT.95233859 

    24/48 AceView cDNA sequences (see all 48):

    BE502328 CF528868 AW817157 J04071 BQ012224 AY372494 BU603175 NM_004131 
    J03189 BM987823 BE502557 BM923149 BI833067 BM917944 AY232654 CB528665 
    BC030195 BI909392 BM561748 T29763 AW960218 AY232656 BI907734 BX283601 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GZMB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAACGCTACT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See GZMB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GZMB

    SOURCE GeneReport for Unigene cluster: Hs.1051
        SABiosciences Expression via Pathway-Focused 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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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GZMB

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for GZMB gene from 2/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-165b19.46
    si:ch211-165b19.86
    (see all 7)
    si:ch211-165b19.8
    (see all 7)
    39(a)
    39(a)
    (see all 7)
    many ↔ many
    many ↔ many
    (see all 7)
    9(33687862-33689964)
    9(33700477-33702236)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG167496
    Try29F6
    (see all 49)
    Trypsin 29F
    (see all 49)
    28(a)
    27(a)
    (see all 49)
    possible ortholog
    possible ortholog
    (see all 49)
    3R(5156607-5157617)
    2L(8998537-8999468)


    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)
    About This Section
    Paralogs for GZMB gene
    PRTN32  GZMH2  GZMK2  PRSS572  CTSG2  CFD2  ELANE2  CMA12  
    AZU12  GZMM2  GZMA2  
    18/65 SIMAP similar genes for GZMB using alignment to 7 protein entries:     GRAB_HUMAN (see all proteins) (see all similar genes):
    CTSG    GZMH    CMA1    GZMA    KLK4    KLK8
    KLK5    GZMK    KLK14    CTRB1    ELANE    KLK1
    AZU1    CFD    DF    GZMM    PRSS1    PRSS57

    GZMB for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/130 NCBI SNPs in GZMB are shown (see all 130    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs81929221,2
    C,F,H,--5214470(-) AGCTCG/ATCCTC 1 -- ds50019Minor allele frequency- A:0.05NS EA NA WA 778
    rs799918301,2
    --5214808(+) TGTCAC/TTGGCC 1 -- ds50010--------
    rs1124508111,2
    --5215353(+) CCCAGG/ATCCTG 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1122731851,2
    F--5215479(+) ACACAC/ACTGGT 1 -- int12Minor allele frequency- A:0.50CSA 4
    rs455624421,2
    C,F,--5216134(+) AGGCAT/CAGGAA 1 -- int13Minor allele frequency- C:0.08NA CSA 124
    rs456283361,2
    C,--5216152(+) AGAGGC/TCAGGA 1 -- int13Minor allele frequency- T:0.18CSA NA EA 242
    rs1138225351,2
    C,F,--5216177(+) GGGCCG/TGCATT 1 -- int17Minor allele frequency- T:0.18NA WA CSA EA 366
    rs454424941,2
    C,F,--5216187(+) TCCAGG/TGGGAG 1 -- int15Minor allele frequency- T:0.20NA WA EA 246
    rs1132032041,2
    --5216483(+) GGAAAG/TTAAGG 1 -- int11Minor allele frequency- T:0.00CSA 1
    rs726810271,2
    C,F,--5217256(+) CTTTGC/TTTTGT 1 -- int11Minor allele frequency- T:0.11NA 120

    HapMap Linkage Disequilibrium report for GZMB (25100160 - 25103473 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for GZMB: --
    Human Gene Mutation Database (HGMD): GZMB

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section

    GZMB for disorders           About GeneDecksing

    OMIM gene information: 123910    OMIM disorders: --

    20/137 diseases for GZMB (see all 137):    About MalaCards
    subcutaneous panniculitis-like t-cell lymphoma    toxic epidermal necrolysis    pure red-cell aplasia    stevens-johnson syndrome
    graft versus host disease    lymphomatoid papulosis    anaplastic large cell lymphoma    rasmussen encephalitis
    diffuse large b-cell lymphoma    hypersensitivity reaction type ii disease    acute graft versus host disease    cervical intraepithelial neoplasia
    alopecia areata    infiltrative basal cell carcinoma    mycosis fungoides    non-small cell lung carcinoma
    lichen planus    b-cell lymphomas    allergic contact dermatitis    contact dermatitis

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

    10/93 Novoseek 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)

    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)
    About This Section

    PubMed articles for GZMB gene, integrated from 9 sources (see all 862):
    (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. (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. (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. (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. (1990)
    5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Catalog of 680 variations among eight cytochrome p450 (CYP) genes, nine esterase genes, and two other genes in the Japanese population. (PubMed id 12721789)1, 2 Saito S....Nakamura Y. (2003)
    8. Human cytotoxic lymphocyte granzyme B. Its purification from granules and the characterization of substrate and inhibitor specificity. (PubMed id 1985927)1, 2 Poe M....Zweerink H.J. (1991)
    9. Structural organization of the hCTLA-1 gene encoding human granzyme B. (PubMed id 2332171)1, 2 Haddad P.... Mathieu-Mahul D. (1990)
    10. Genomic organization and chromosomal assignment for a serine protease gene (CSPB) expressed by human cytotoxic lymphocytes. (PubMed id 2788607)1, 2 Klein J.L.... Trapani J.A. (1989)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 3002 HGNC: 4709 AceView: GZMB Ensembl:ENSG00000100453 euGenes: HUgn3002
    ECgene: GZMB Kegg: 3002 H-InvDB: GZMB

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    About This Section

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