Atlas of Genetics and Cytogenetics in Oncology and Haematology

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GZMB (granzyme B)

Identity

Alias (NCBI)C11
CCPI
CGL-1
CGL1
CSP-B
CSPB
CTLA1
CTSGL1
HLP
SECT
HGNC (Hugo) GZMB
HGNC Alias symbCCPI
CGL-1
CSP-B
CGL1
CTSGL1
HLP
SECT
HGNC Alias namefragmentin 2
 cytotoxic serine protease B
 cathepsin G-like 1
 T-cell serine protease 1-3E
 granzyme 2
 cytotoxic T-lymphocyte-associated serine esterase 1
HGNC Previous nameCTLA1
 CSPB
HGNC Previous namegranzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
LocusID (NCBI) 3002
Atlas_Id 45957
Location 14q12  [Link to chromosome band 14q12]
Location_base_pair Starts at 24630956 and ends at 24634190 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
GIGYF1 (7q22.1) / GZMB (14q12)TDO2 (4q32.1) / GZMB (14q12)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)GZMB   4709
Cards
Entrez_Gene (NCBI)GZMB  3002  granzyme B
AliasesC11; CCPI; CGL-1; CGL1; 
CSP-B; CSPB; CTLA1; CTSGL1; HLP; SECT
GeneCards (Weizmann)GZMB
Ensembl hg19 (Hinxton)ENSG00000100453 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100453 [Gene_View]  ENSG00000100453 [Sequence]  chr14:24630956-24634190 [Contig_View]  GZMB [Vega]
ICGC DataPortalENSG00000100453
TCGA cBioPortalGZMB
AceView (NCBI)GZMB
Genatlas (Paris)GZMB
WikiGenes3002
SOURCE (Princeton)GZMB
Genetics Home Reference (NIH)GZMB
Genomic and cartography
GoldenPath hg38 (UCSC)GZMB  -     chr14:24630956-24634190 -  14q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GZMB  -     14q12   [Description]    (hg19-Feb_2009)
GoldenPathGZMB - 14q12 [CytoView hg19]  GZMB - 14q12 [CytoView hg38]
ImmunoBaseENSG00000100453
genome Data Viewer NCBIGZMB [Mapview hg19]  
OMIM123910   
Gene and transcription
Genbank (Entrez)AY232654 AY232655 AY232656 AY372494 BC030195
RefSeq transcript (Entrez)NM_001346011 NM_004131
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GZMB
Alternative Splicing GalleryENSG00000100453
Gene ExpressionGZMB [ NCBI-GEO ]   GZMB [ EBI - ARRAY_EXPRESS ]   GZMB [ SEEK ]   GZMB [ MEM ]
Gene Expression Viewer (FireBrowse)GZMB [ Firebrowse - Broad ]
GenevisibleExpression of GZMB in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3002
GTEX Portal (Tissue expression)GZMB
Human Protein AtlasENSG00000100453-GZMB [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP10144   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP10144  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP10144
Splice isoforms : SwissVarP10144
Catalytic activity : Enzyme3.4.21.79 [ Enzyme-Expasy ]   3.4.21.793.4.21.79 [ IntEnz-EBI ]   3.4.21.79 [ BRENDA ]   3.4.21.79 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusP10144
Domaine pattern : Prosite (Expaxy)TRYPSIN_DOM (PS50240)    TRYPSIN_HIS (PS00134)    TRYPSIN_SER (PS00135)   
Domains : Interpro (EBI)Peptidase_S1_PA    Peptidase_S1A    Trypsin_dom    TRYPSIN_HIS    TRYPSIN_SER   
Domain families : Pfam (Sanger)Trypsin (PF00089)   
Domain families : Pfam (NCBI)pfam00089   
Domain families : Smart (EMBL)Tryp_SPc (SM00020)  
Conserved Domain (NCBI)GZMB
DMDM Disease mutations3002
Blocks (Seattle)GZMB
PDB (RSDB)1FQ3    1IAU   
PDB Europe1FQ3    1IAU   
PDB (PDBSum)1FQ3    1IAU   
PDB (IMB)1FQ3    1IAU   
Structural Biology KnowledgeBase1FQ3    1IAU   
SCOP (Structural Classification of Proteins)1FQ3    1IAU   
CATH (Classification of proteins structures)1FQ3    1IAU   
SuperfamilyP10144
Human Protein Atlas [tissue]ENSG00000100453-GZMB [tissue]
Peptide AtlasP10144
HPRD00476
IPIIPI00744785   IPI00424530   IPI00470520   IPI00424529   IPI00985338   IPI00981726   IPI00981056   
Protein Interaction databases
DIP (DOE-UCLA)P10144
IntAct (EBI)P10144
FunCoupENSG00000100453
BioGRIDGZMB
STRING (EMBL)GZMB
ZODIACGZMB
Ontologies - Pathways
QuickGOP10144
Ontology : AmiGOimmunological synapse  serine-type endopeptidase activity  serine-type endopeptidase activity  protein binding  nucleus  cytoplasm  mitochondrion  cytosol  proteolysis  apoptotic process  serine-type peptidase activity  granzyme-mediated apoptotic signaling pathway  membrane  negative regulation of translation  cytolysis  natural killer cell mediated cytotoxicity  positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  
Ontology : EGO-EBIimmunological synapse  serine-type endopeptidase activity  serine-type endopeptidase activity  protein binding  nucleus  cytoplasm  mitochondrion  cytosol  proteolysis  apoptotic process  serine-type peptidase activity  granzyme-mediated apoptotic signaling pathway  membrane  negative regulation of translation  cytolysis  natural killer cell mediated cytotoxicity  positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  
Pathways : KEGGNatural killer cell mediated cytotoxicity    Type I diabetes mellitus    Transcriptional misregulation in cancer    Autoimmune thyroid disease    Allograft rejection    Graft-versus-host disease   
NDEx NetworkGZMB
Atlas of Cancer Signalling NetworkGZMB
Wikipedia pathwaysGZMB
Orthology - Evolution
OrthoDB3002
GeneTree (enSembl)ENSG00000100453
Phylogenetic Trees/Animal Genes : TreeFamGZMB
HOGENOMP10144
Homologs : HomoloGeneGZMB
Homology/Alignments : Family Browser (UCSC)GZMB
Gene fusions - Rearrangements
Fusion : QuiverGZMB
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGZMB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GZMB
dbVarGZMB
ClinVarGZMB
MonarchGZMB
1000_GenomesGZMB 
Exome Variant ServerGZMB
GNOMAD BrowserENSG00000100453
Varsome BrowserGZMB
Genetic variants : HAPMAP3002
Genomic Variants (DGV)GZMB [DGVbeta]
DECIPHERGZMB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGZMB 
Mutations
ICGC Data PortalGZMB 
TCGA Data PortalGZMB 
Broad Tumor PortalGZMB
OASIS PortalGZMB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGZMB  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGZMB
Mutations and Diseases : HGMDGZMB
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GZMB
DgiDB (Drug Gene Interaction Database)GZMB
DoCM (Curated mutations)GZMB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GZMB (select a term)
intoGenGZMB
Cancer3DGZMB(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM123910   
Orphanet
DisGeNETGZMB
MedgenGZMB
Genetic Testing Registry GZMB
NextProtP10144 [Medical]
TSGene3002
GENETestsGZMB
Target ValidationGZMB
Huge Navigator GZMB [HugePedia]
snp3D : Map Gene to Disease3002
BioCentury BCIQGZMB
ClinGenGZMB
Clinical trials, drugs, therapy
Protein Interactions : CTD3002
Pharm GKB GenePA29087
Clinical trialGZMB
Miscellaneous
canSAR (ICR)GZMB (select the gene name)
HarmonizomeGZMB
DataMed IndexGZMB
Probes
Litterature
PubMed282 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGZMB
EVEXGZMB
GoPubMedGZMB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:13:43 CEST 2020
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