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GZMB Gene

protein-coding   GIFtS: 64

GC14M005214
granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: CTLA1, CSPB)
Products    

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

Aliases & Descriptions
granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)1 2     T-cell serine protease 1-3E2 3
CGL11 2 3     C112 3
CTSGL11 2 3     CTLA-12 3
SECT1 2 3     granzyme B2
HLP1 2 3     OTTHUMP000000281892
CTLA12 3 5     fragmentin 22
CSPB2 3 5     fragmentin-22
CCPI1 2     granzyme-22
CGL-11 2     cytotoxic serine protease B2
CSP-B1 2     Granzyme-23
Lymphocyte protease2 3     Fragmentin-23
Cytotoxic T-lymphocyte proteinase 22 3     GRB3
Cathepsin G-like 12 3     EC 3.4.21.793
Human lymphocyte protein2 3     

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

Export aliases for GZMB gene to outside databases

Previous GC identifers: GC14M022472 GC14M018887 GC14M023090 GC14M024170 GC14M025100


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
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)

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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GZMB gene promoter:
         CREB   deltaCREB   IRF-7A   STAT5A   c-Rel   MRF-2   AREB6   SRF   RREB-1   c-Jun   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for GZMB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


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 gene densities for chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M005214:  view genomic region     (about GC identifiers)

Start:
5,214,872 bp from pter
End:
5,218,144 bp from pter
Size:
3,273 bases
Orientation:
minus strand

1 alternative location:
Chr14- 25,100,161-25,103,473     
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: GRAB_HUMAN, P10144 (See protein sequence)
Recommended Name: Granzyme B precursor  
Size: 247 amino acids; 27688 Da
Subcellular location: Cytoplasmic granule. Note=Cytoplasmic granules of cytolytic T-lymphocytes and natural killer
cells
PDB structure from and Proteopedia :
1FQ3 (3D)    1IAU (3D)    
Secondary accessions: Q8N1D2 Q9UCC1

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

REFSEQ proteins: NP_004122.2  

ENSEMBL proteins: 
ENSP00000216341 ENSP00000387385 ENSP00000371979 ENSP00000371980 ENSP00000371982 


Human Recombinant Proteins 
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich
R&D Systems Recombinant & Natural Proteins for GZMB (Granzyme B)
Enzo Life Sciences proteins for GZMB
Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
OriGene Protein Over-expression Lysate: GZMB
GenScript Custom Purified and Recombinant Proteins Services for GZMB 
Novus Biologicals Proteins for GZMB
Novus Biologicals Lysates for GZMB
Sino Biological Recombinant Protein for GZMB
Browse ProSpec Recombinant Proteins

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

GO IDQualified GO termEvidencePubMed IDs
GO:0001772 immunological synapse TAS12524539
GO:0005634 nucleus TAS11909973
GO:0005737 cytoplasm IDA18029348
GO:0005829 cytosol EXP11114298
GO:0043231 intracellular membrane-bounded organelle IDA18029348
About this table

GZMB for ontologies           About GeneDecksing



Antibodies for GZMB: 
Millipore Mono- and Polyclonal Antibodies for the study of GZMB
Sigma-Aldrich Antibody Arrays and Antibodies for GZMB
R&D Systems Antibodies for GZMB (Granzyme B)
Cell Signaling Technology (CST) Antibodies for GZMB  (Granzyme B)
Browse OriGene Antibodies
GenScript Custom Superior Antibodies Services for GZMB 
Novus Biologicals Antibodies for GZMB
Browse antibodies at Epitomics

Assays for GZMB: 
Browse Kits and Assays available from Millipore
Browse ELISAs at Sigma-Aldrich
OriGene Custom Immunoassay Development 
OriGene Fluorogenic Cell Assay Kit: GZMB 
R&D Systems ELISpot Kits & Development Modules for GZMB (Granzyme B)
GenScript Custom Assay Services for GZMB 
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_S6
 IPR018114 Peptidase_S1/S6_AS
 IPR009003 Ser/Cys_Pept_Trypsin-like

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 UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

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
Enzyme Number (IUBMB): EC 3.4.21.79 

Inhib.
RNA:
    
Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich siRNA Panels and esiRNA and siRNA for GZMB
Sigma-Aldrich shRNA Panels and shRNA for GZMB
OriGene 29mer shRNA kits in GFP-retroviral vector: GZMB
OriGene shRNA RFP: GZMB
OriGene basic RS shRNA: GZMB
OriGene siRNA: GZMB
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of GZMB 
miRNA:Sigma-Aldrich microRNA Mimics for GZMB
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of GZMB 
Search SABiosciences for Assays for microRNAs that regulate GZMB

Gene
Editing:
Browse CompoZr Knockout ZFN at Sigma-Aldrich 

Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
Browse iPSC Reprogramming Factors at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector: GZMB
OriGene Myc/DDK tagged cDNA clones in CMV expression vector: GZMB
OriGene untagged cDNA clones in CMV expression vector: GZMB
OriGene 3'-UTR clone: GZMB 
Browse MicroRNA Expression Plasmids 
GenScript Custom cDNA clone Services for GZMB 
Sino Biological Human cDNA Clone for GZMB

Cell
Lines:
  
GenScript Custom overexpressing Cell Line Services for GZMB 

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@)

5 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0003824 catalytic activity ----
GO:0004252 serine-type endopeptidase activity TAS12524539
GO:0005515 protein binding IPI11911826
GO:0008233 peptidase activity IEA--
GO:0008236 serine-type peptidase activity TAS2402757
About this table

GZMB for ontologies           About GeneDecksing

Animal Models: 5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Gzmb):

hematopoietic systemhomeostasis/metabolismimmune systemlife span-post-weaning/agingtumorigenesis

GZMB for phenotypes           About GeneDecksing


(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section


GZMB for pathways           About GeneDecksing

5/8 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  GZMB (see all 8)
    Granzyme B Signaling
Graft-versus-Host Disease Signaling
Lysine Degradation
Allograft Rejection Signaling
Type I Diabetes Mellitus Signaling

5 Kegg Pathways  (Kegg details for GZMB):
    hsa04650 Natural killer cell mediated cytotoxicity
hsa04940 Type I diabetes mellitus
hsa05320 Autoimmune thyroid disease
hsa05330 Allograft rejection
hsa05332 Graft-versus-host disease

    SABiosciences Pathway-Focused PCR Arrays including GZMB: PAHS-068A PAHS-074A 

    Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for GZMB
    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GZMB

5/20 Interacting proteins for GZMB (ENSP000003719823 P101441, 2) via UniProtKB, MINT, and/or STRING (see all 20)
InteractantInteraction Details
GeneCardExternal ID(s)
PRF1P142221STRING: ENSP00000362305 EBI-2505785,EBI-724466
SRGNP101241STRING: ENSP00000242465 EBI-2505785,EBI-744915
ELANEP082462MINT-6803398
CASP10ENSP000002861863STRING: ENSP00000286186
IL12AENSP000003032313STRING: ENSP00000303231
About this table

5/6 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 6):

GO IDQualified GO termEvidencePubMed IDs
GO:0006508 proteolysis IEA--
GO:0006915 apoptosis TAS--
GO:0006922 cleavage of lamin IDA11331782
GO:0008629 induction of apoptosis by intracellular signals TAS--
GO:0008633 activation of pro-apoptotic gene products TAS--
About this table

GZMB for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

GZMB for compounds           About GeneDecksing

Sigma-Aldrich Small Molecules for GZMB:
Small Molecule - Substrate
Enzo Life Sciences drugs & compounds for GZMB

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


10/59 Novoseek chemical compound relationships for GZMB gene (see all 59)
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)
About this table



(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib.
RNA:
     
Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich siRNA Panels and esiRNA and siRNA for GZMB
Sigma-Aldrich shRNA Panels and shRNA for GZMB
OriGene 29mer shRNA kits in GFP-retroviral vector: GZMB
OriGene shRNA RFP: GZMB
OriGene basic RS shRNA: GZMB
OriGene siRNA: GZMB
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of GZMB 
miRNA: Sigma-Aldrich microRNA Mimics for GZMB
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of GZMB 
Search SABiosciences for Assays for microRNAs that regulate GZMB
Clones: Browse FLAG tag genes at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector: GZMB
OriGene Myc/DDK tagged cDNA clones in CMV expression vector: GZMB
OriGene untagged cDNA clones in CMV expression vector: GZMB
OriGene 3'-UTR Clone: GZMB 
Browse OriGene MicroRNA Expression Plasmids 
GenScript Custom cDNA clone Services for GZMB 
Primers: OriGene genome-wide validated SYBR primer pairs: GZMB
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for GZMB: PPH02594A

REFSEQ mRNAs for GZMB gene: 

NM_004131.4  

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 BM917944 BM923149 NM_004131 BC030195 BQ012224 AW817157 BM987823 
BI909392 AY372494 BI833067 J04071 BM561748 J03189 CF528868 BE502557 
CB528665 BU603175 AY232654 BI907734 M17016 AA381640 BU600317 BF589964 

highest scoring ESTs for GZMB:

AA381074 AA381640 AW960218 AY232654 AY232655 BC030195 BI832941 BI833067 BI836851 BM561748 

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


GeneLoc Exon Structure

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

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

About this scheme

ECgene alternative splicing isoforms for GZMB
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000216341(uc001wps.2 uc010ama.2 uc010amb.2) ENST00000415355
ENST00000382539 ENST00000382540 ENST00000382542

(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

GZMB expression in normal and diseased human tissues

1  / 2  / 3

3 probe-sets matching GZMB gene

Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
37137_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 M17016 0.80 1.00 0.91 1
210164_at2, 3 U133-A 1 1.00 1.00 -- -- J03189 0.80 1.00 0.91 1
210164_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table

GZMB for expression           About GeneDecksing

Data from Genenote  (Publications) and GNF BioGPS
    About these images
GZMB gene expression
GZMB gene electronic northern expression
GZMB gene sage expression
About these images

CGAP SAGE TAG: AAACGCTACT

SOURCE GeneReport for Unigene cluster: Hs.1051

Expression variation in blood from EXPOLDB for GZMB

Primers: OriGene genome-wide validated SYBR primer pairs: GZMB
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for GZMB: PPH02594A
    SABiosciences Expression via Pathway-Focused PCR Arrays including GZMB: PAHS-068A PAHS-074A 


(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for GZMB gene from 4 species
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
GZMB1   -- granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated more 77.44(n)
71.18(a)
490630  XM_547752.2  XP_547752.2 
chimpanzee
(Pan troglodytes)
GZMB1   -- granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated more 98.52(n)
97.57(a)
452825  XM_509879.2  XP_509879.2 
cow
(Bos taurus)
GZMB1   -- granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated more 79.51(n)
72.54(a)
508646  XM_585453.3  XP_585453.2 
mouse
(Mus musculus)
Gzmb1 , 5 14 (28.19 cM)5
granzyme B1, 5 75.78(n)1
68.16(a)1
149391  NM_013542.21  NP_038570.11 
 AI5534535  AK1578565  (see all 11)
About this table        Species with no ortholog for GZMB

ENSEMBL Gene Tree for GZMB (if available)

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
Paralogs for GZMB gene
GZMH2  CMA12  CTSG2  

GZMB for paralogs           About GeneDecksing



(SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

10/61 NCBI SNPs in GZMB are shown (see all 61)
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidChr 14 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
----------
rs9859311,2
C,25105341(+) gaaaaA/Gtaata 1 -- ng513Minor allele frequency- G:0.03NS NA 188
rs11266391,2
C,F,H25101548(-) TCCAAC/TGACAT 2 N ref1 syn18Minor allele frequency- T:0.27NS EA NA WA 498
rs22363371,2
C,F,O,25100247(+) TTCATT/CACAGC 1 -- ut3113Minor allele frequency- C:0.22EA NA NS WA 2266
rs22363381,2
C,F,O,25100282(+) TTAGTA/GGCGTT 2 H Y mis1 ref119Minor allele frequency- G:0.23EA NA NS WA 2848
rs22738431,2
C,25103409(+) TTTCCT/CCCTTG 1 -- ut51 ese3 trp34Minor allele frequency- C:0.12NA EA WA 212
rs22738441,2
C,F,A,25103414(+) TCCTTG/ACTCTC 1 -- ut5118Minor allele frequency- A:0.26NA NS EA WA 1184
rs65739101,2
C,F,A,25100882(+) GCCTCC/TTGGTA 1 -- int120Minor allele frequency- T:0.26NA NS EA WA 1210
rs65739111,2
C,F,A,25100933(+) CCCCTC/TTTCTC 1 -- int1 trp319Minor allele frequency- T:0.26NA NS EA WA 1198
rs71443661,2
C,F,A,25103662(+) GTGAAC/TTGTAG 1 -- ng51106Minor allele frequency- N:0.00EA NS NA PA EU CA WA 6896
rs80128461,2
C,F,A,25105151(+) ttaacC/Tatttt 1 -- ng51 tfbs31Minor allele frequency- T:0.06WA 50
About this table

HapMap Linkage Disequilibrium images for GZMB (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for GZMB: --

QIAGEN SeqTarget long-range PCR primers for resequencing GZMB 

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

GZMB for disorders           About GeneDecksing

OMIM: 123910

10/93 Novoseek disease relationships for GZMB gene (see all 93)

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)
About this table

Human Gene Mutation Database (HGMD): GZMB
Human Genome Epidemiology (HuGE) Navigator: GZMB (12 documents)

Export disorders and mutations for GZMB gene to outside databases

(Possibly Related Articles in Doctor's Guide)
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  --

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
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10/828 PubMed articles for GZMB gene, integrated from 7 sources (see all 828):
(articles sorted by number of sources associating them with GZMB)
  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, 7 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, 7 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, 7 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)
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(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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from XenneX, Inc.)
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Patent Information for GZMB gene:
Search GeneIP for patents involving GZMB

GeneCards and IP:
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 ELISAs and CLIAs for GZMB
       

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