Atlas of Genetics and Cytogenetics in Oncology and Haematology

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GZMH (granzyme H)

Identity

Alias_namesCTSGL2
granzyme H (cathepsin G-like 2, protein h-CCPX)
Alias_symbol (synonym)CGL-2
CCP-X
CTLA1
CSP-C
Other alias
HGNC (Hugo) GZMH
LocusID (NCBI) 2999
Atlas_Id 64141
Location 14q12  [Link to chromosome band 14q12]
Location_base_pair Starts at 24606480 and ends at 24609720 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)

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)GZMH   4710
Cards
Entrez_Gene (NCBI)GZMH  2999  granzyme H
AliasesCCP-X; CGL-2; CSP-C; CTLA1; 
CTSGL2
GeneCards (Weizmann)GZMH
Ensembl hg19 (Hinxton)ENSG00000100450 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100450 [Gene_View]  ENSG00000100450 [Sequence]  chr14:24606480-24609720 [Contig_View]  GZMH [Vega]
ICGC DataPortalENSG00000100450
TCGA cBioPortalGZMH
AceView (NCBI)GZMH
Genatlas (Paris)GZMH
WikiGenes2999
SOURCE (Princeton)GZMH
Genetics Home Reference (NIH)GZMH
Genomic and cartography
GoldenPath hg38 (UCSC)GZMH  -     chr14:24606480-24609720 -  14q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GZMH  -     14q12   [Description]    (hg19-Feb_2009)
GoldenPathGZMH - 14q12 [CytoView hg19]  GZMH - 14q12 [CytoView hg38]
ImmunoBaseENSG00000100450
Mapping of homologs : NCBIGZMH [Mapview hg19]  GZMH [Mapview hg38]
OMIM116831   
Gene and transcription
Genbank (Entrez)AW204493 AY232657 AY232658 BC027974 BQ054303
RefSeq transcript (Entrez)NM_001270780 NM_001270781 NM_033423
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GZMH
Cluster EST : UnigeneHs.348264 [ NCBI ]
CGAP (NCI)Hs.348264
Alternative Splicing GalleryENSG00000100450
Gene ExpressionGZMH [ NCBI-GEO ]   GZMH [ EBI - ARRAY_EXPRESS ]   GZMH [ SEEK ]   GZMH [ MEM ]
Gene Expression Viewer (FireBrowse)GZMH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2999
GTEX Portal (Tissue expression)GZMH
Human Protein AtlasENSG00000100450-GZMH [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20718   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP20718  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP20718
Splice isoforms : SwissVarP20718
PhosPhoSitePlusP20718
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)GZMH
DMDM Disease mutations2999
Blocks (Seattle)GZMH
PDB (RSDB)1LXV    3TJU    3TJV    3TK9    4GAW   
PDB Europe1LXV    3TJU    3TJV    3TK9    4GAW   
PDB (PDBSum)1LXV    3TJU    3TJV    3TK9    4GAW   
PDB (IMB)1LXV    3TJU    3TJV    3TK9    4GAW   
Structural Biology KnowledgeBase1LXV    3TJU    3TJV    3TK9    4GAW   
SCOP (Structural Classification of Proteins)1LXV    3TJU    3TJV    3TK9    4GAW   
CATH (Classification of proteins structures)1LXV    3TJU    3TJV    3TK9    4GAW   
SuperfamilyP20718
Human Protein Atlas [tissue]ENSG00000100450-GZMH [tissue]
Peptide AtlasP20718
HPRD00290
IPIIPI00025400   IPI00424527   IPI00424528   IPI01025852   
Protein Interaction databases
DIP (DOE-UCLA)P20718
IntAct (EBI)P20718
FunCoupENSG00000100450
BioGRIDGZMH
STRING (EMBL)GZMH
ZODIACGZMH
Ontologies - Pathways
QuickGOP20718
Ontology : AmiGOserine-type endopeptidase activity  cytoplasm  proteolysis  apoptotic process  granzyme-mediated apoptotic signaling pathway  membrane  cytolysis  
Ontology : EGO-EBIserine-type endopeptidase activity  cytoplasm  proteolysis  apoptotic process  granzyme-mediated apoptotic signaling pathway  membrane  cytolysis  
NDEx NetworkGZMH
Atlas of Cancer Signalling NetworkGZMH
Wikipedia pathwaysGZMH
Orthology - Evolution
OrthoDB2999
GeneTree (enSembl)ENSG00000100450
Phylogenetic Trees/Animal Genes : TreeFamGZMH
HOGENOMP20718
Homologs : HomoloGeneGZMH
Homology/Alignments : Family Browser (UCSC)GZMH
Gene fusions - Rearrangements
Fusion : QuiverGZMH
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGZMH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GZMH
dbVarGZMH
ClinVarGZMH
1000_GenomesGZMH 
Exome Variant ServerGZMH
ExAC (Exome Aggregation Consortium)ENSG00000100450
GNOMAD BrowserENSG00000100450
Varsome BrowserGZMH
Genetic variants : HAPMAP2999
Genomic Variants (DGV)GZMH [DGVbeta]
DECIPHERGZMH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGZMH 
Mutations
ICGC Data PortalGZMH 
TCGA Data PortalGZMH 
Broad Tumor PortalGZMH
OASIS PortalGZMH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGZMH  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGZMH
Mutations and Diseases : HGMDGZMH
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 GZMH
DgiDB (Drug Gene Interaction Database)GZMH
DoCM (Curated mutations)GZMH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GZMH (select a term)
intoGenGZMH
Cancer3DGZMH(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM116831   
Orphanet
DisGeNETGZMH
MedgenGZMH
Genetic Testing Registry GZMH
NextProtP20718 [Medical]
TSGene2999
GENETestsGZMH
Target ValidationGZMH
Huge Navigator GZMH [HugePedia]
snp3D : Map Gene to Disease2999
BioCentury BCIQGZMH
ClinGenGZMH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2999
Chemical/Pharm GKB GenePA29088
Clinical trialGZMH
Miscellaneous
canSAR (ICR)GZMH (select the gene name)
DataMed IndexGZMH
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGZMH
EVEXGZMH
GoPubMedGZMH
iHOPGZMH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Sep 3 15:30:41 CEST 2019
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