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Aliases for GZMH Gene

Aliases for GZMH Gene

  • Granzyme H (Cathepsin G-Like 2, Protein H-CCPX) 2 3
  • CTSGL2 3 4 6
  • Cytotoxic T-Lymphocyte Proteinase 3 4
  • CCP-X 3 4
  • CSP-C 3 4
  • Cytotoxic T-Lymphocyte-Associated Serine Esterase 1 3
  • Cytotoxin Serine Protease-C 3
  • Cytotoxic Serine Protease C 4
  • Cathepsin G-Like 2 4
  • EC 3.4.21.79 63
  • EC 3.4.21.- 4
  • Granzyme H 3
  • EC 3.4.21 63
  • CGL-2 3
  • CTLA1 3
  • CGL2 4

External Ids for GZMH Gene

Previous HGNC Symbols for GZMH Gene

  • CTSGL2

Previous GeneCards Identifiers for GZMH Gene

  • GC14U990026
  • GC14M023065
  • GC14M024145
  • GC14M025075
  • GC14M005190

Summaries for GZMH Gene

Entrez Gene Summary for GZMH Gene

  • The protein encoded by this gene is a member of the granzyme family. Members of this family are highly conserved serine proteases that eliminate transformed cells and virus-infected cells. This protein, which has chymotrypsin-like activity, has a preference for bulky aromatic amino acids at the P1 position and for acidic residues at the P3' and P4' positions. This protein is reported to be constitutively expressed in NK cells and may play a role in the cytotoxic arm of the innate immune response by inducing target cell death and by directly cleaving substrates in pathogen-infected cells. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

GeneCards Summary for GZMH Gene

GZMH (Granzyme H (Cathepsin G-Like 2, Protein H-CCPX)) is a Protein Coding gene. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Peptide hormone metabolism. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is ELANE.

UniProtKB/Swiss-Prot for GZMH Gene

  • Cytotoxic chymotrypsin-like serine protease with preference for bulky and aromatic residues at the P1 position and acidic residues at the P3 and P4 sites. Probably necessary for target cell lysis in cell-mediated immune responses. Participates in the antiviral response via direct cleavage of several proteins essential for viral replication.

Gene Wiki entry for GZMH Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GZMH Gene

Genomics for GZMH Gene

Regulatory Elements for GZMH Gene

Genomic Location for GZMH Gene

Start:
24,606,480 bp from pter
End:
24,609,720 bp from pter
Size:
3,241 bases
Orientation:
Minus strand

Genomic View for GZMH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GZMH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GZMH Gene

Proteins for GZMH Gene

  • Protein details for GZMH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20718-GRAH_HUMAN
    Recommended name:
    Granzyme H
    Protein Accession:
    P20718
    Secondary Accessions:
    • G3V2C5
    • Q6XGZ0
    • Q6XGZ1

    Protein attributes for GZMH Gene

    Size:
    246 amino acids
    Molecular mass:
    27315 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for GZMH Gene

    Alternative splice isoforms for GZMH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GZMH Gene

Proteomics data for GZMH Gene at MOPED

Selected DME Specific Peptides for GZMH Gene

Post-translational modifications for GZMH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GZMH Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Domains for GZMH Gene

Suggested Antigen Peptide Sequences for GZMH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P20718

UniProtKB/Swiss-Prot:

GRAH_HUMAN :
  • P20718
Domain:
  • Contains 1 peptidase S1 domain.
Family:
  • Belongs to the peptidase S1 family. Granzyme subfamily.
genes like me logo Genes that share domains with GZMH: view

No data available for Gene Families for GZMH Gene

Function for GZMH Gene

Molecular function for GZMH Gene

GENATLAS Biochemistry: cytotoxic T-lymphocyte-associated granule serine protease 2,low expression in LAK and NK cells,(cathepsin G-like 2),(see SPAS@)
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by SERPINB1.
UniProtKB/Swiss-Prot Function: Cytotoxic chymotrypsin-like serine protease with preference for bulky and aromatic residues at the P1 position and acidic residues at the P3 and P4 sites. Probably necessary for target cell lysis in cell-mediated immune responses. Participates in the antiviral response via direct cleavage of several proteins essential for viral replication.

Enzyme Numbers (IUBMB) for GZMH Gene

Gene Ontology (GO) - Molecular Function for GZMH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004252 serine-type endopeptidase activity NAS 2193684
genes like me logo Genes that share ontologies with GZMH: view

Phenotypes for GZMH Gene

genes like me logo Genes that share phenotypes with GZMH: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GZMH

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for GZMH Gene

Localization for GZMH Gene

Subcellular locations from UniProtKB/Swiss-Prot for GZMH Gene

Cytoplasmic granule. Note=Cytoplasmic granules of cytolytic T-lymphocytes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GZMH Gene COMPARTMENTS Subcellular localization image for GZMH gene
Compartment Confidence
extracellular 3
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GZMH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0016020 membrane IDA 19946888
GO:0043231 intracellular membrane-bounded organelle IBA --
genes like me logo Genes that share ontologies with GZMH: view

Pathways for GZMH Gene

genes like me logo Genes that share pathways with GZMH: view

Interacting Proteins for GZMH Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000216338%0d%0a9606.ENSP00000260956%0d%0a9606.ENSP00000164139%0d%0a
Selected Interacting proteins: P20718-GRAH_HUMAN ENSP00000216338 for GZMH Gene via MINT STRING I2D

Gene Ontology (GO) - Biological Process for GZMH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis --
GO:0006915 apoptotic process NAS 2193684
GO:0006955 immune response IBA --
GO:0016485 protein processing IBA --
GO:0019835 cytolysis IEA --
genes like me logo Genes that share ontologies with GZMH: view

Compounds for GZMH Gene

(1) Novoseek inferred chemical compound relationships for GZMH Gene

Compound -log(P) Hits PubMed IDs
serine 55.7 3
genes like me logo Genes that share compounds with GZMH: view

Transcripts for GZMH Gene

Unigene Clusters for GZMH Gene

Granzyme H (cathepsin G-like 2, protein h-CCPX):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GZMH

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GZMH Gene

No ASD Table

Relevant External Links for GZMH Gene

GeneLoc Exon Structure for
GZMH
ECgene alternative splicing isoforms for
GZMH

Expression for GZMH Gene

mRNA expression in normal human tissues for GZMH Gene

mRNA differential expression in normal tissues according to GTEx for GZMH Gene

This gene is overexpressed in Whole Blood (40.9).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for GZMH Gene

SOURCE GeneReport for Unigene cluster for GZMH Gene Hs.348264

mRNA Expression by UniProt/SwissProt for GZMH Gene

P20718-GRAH_HUMAN
Tissue specificity: Constituvely expressed in NK cells.
genes like me logo Genes that share expressions with GZMH: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for GZMH Gene

Orthologs for GZMH Gene

This gene was present in the common ancestor of mammals.

Orthologs for GZMH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GZMH 35
  • 98.1 (n)
  • 94.72 (a)
GZMH 36
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 69 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Gzmc 16
Gzmd 36
  • 56 (a)
OneToMany
Gzme 36
  • 57 (a)
OneToMany
Gzmf 36
  • 57 (a)
OneToMany
Gzmg 35
  • 68.84 (n)
  • 59.57 (a)
Gzmg 36
  • 58 (a)
OneToMany
Gzmn 36
  • 57 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 52 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 47 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Gzmf 35
  • 69.86 (n)
  • 61.3 (a)
Species with no ortholog for GZMH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for GZMH Gene

ENSEMBL:
Gene Tree for GZMH (if available)
TreeFam:
Gene Tree for GZMH (if available)

Paralogs for GZMH Gene

Paralogs for GZMH Gene

genes like me logo Genes that share paralogs with GZMH: view

Variants for GZMH Gene

Sequence variations from dbSNP and Humsavar for GZMH Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs20545 - 24,607,700(-) GGAGC(A/C/G)GACCC missense, reference
rs1957526 -- 24,609,708(+) AGTAA(A/C)CTCAG utr-variant-5-prime
rs2236336 -- 24,606,523(+) AACCC(C/T)GACTG utr-variant-3-prime
rs2332406 -- 24,610,137(+) TCTGC(C/T)TGTTG upstream-variant-2KB
rs7140465 -- 24,606,325(+) GATTG(A/G)GAAAT downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for GZMH Gene

Variant ID Type Subtype PubMed ID
nsv510631 CNV Loss 20534489
nsv901502 CNV Loss 21882294
esv2748495 CNV Deletion 23290073

Relevant External Links for GZMH Gene

HapMap Linkage Disequilibrium report
GZMH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GZMH Gene

Disorders for GZMH Gene

(2) University of Copenhagen DISEASES for GZMH Gene

(1) Novoseek inferred disease relationships for GZMH Gene

Disease -log(P) Hits PubMed IDs
tumors 0 1

Relevant External Links for GZMH

Genetic Association Database (GAD)
GZMH
Human Genome Epidemiology (HuGE) Navigator
GZMH
genes like me logo Genes that share disorders with GZMH: view

No data available for UniProtKB/Swiss-Prot for GZMH Gene

Publications for GZMH Gene

  1. Structure and evolutionary origin of the human granzyme H gene. (PMID: 2049336) Haddad P. … Sasportes M. (Int. Immunol. 1991) 2 3 4 23
  2. Characterization of a novel, human cytotoxic lymphocyte-specific serine protease cDNA clone (CSP-C). (PMID: 2402757) Klein J.L. … Dupont B. (Tissue Antigens 1990) 3 4 23
  3. A cluster of hematopoietic serine protease genes is found on the same chromosomal band as the human alpha/delta T-cell receptor locus. (PMID: 2300587) Hanson R.D. … Ley T.J. (Proc. Natl. Acad. Sci. U.S.A. 1990) 3 23
  4. Structure and expression of a cluster of human hematopoietic serine protease genes found on chromosome 14q11.2. (PMID: 2007574) Heusel J.W. … Ley T.J. (J. Biol. Chem. 1991) 3 23
  5. Cell death induced by granzyme C. (PMID: 12515723) Johnson H. … Ley T.J. (Blood 2003) 3 23

Products for GZMH Gene

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