GZMH (granzyme H)

2014-11-01  

Identity

HGNC
GZMH
LOCATION
14q12
LOCUSID
2999
ALIAS
CCP-X,CGL-2,CSP-C,CTLA1,CTSGL2

Other Information

Locus ID:

NCBI: 2999
MIM: 116831
HGNC: 4710
Ensembl: ENSG00000100450

Variants:

dbSNP: 2999
ClinVar: 2999
TCGA: ENSG00000100450
COSMIC: GZMH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100450ENST00000216338P20718
ENSG00000100450ENST00000382548P20718
ENSG00000100450ENST00000557220A0A0C4DGJ9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Peptide hormone metabolismREACTOMER-HSA-2980736
Metabolism of Angiotensinogen to AngiotensinsREACTOMER-HSA-2022377
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)REACTOMER-HSA-381426

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
173638942007Granzyme H destroys the function of critical adenoviral proteins required for viral DNA replication and granzyme B inhibition.26
150690862004Discordant regulation of granzyme H and granzyme B expression in human lymphocytes.22
190393292009Cleavage of La protein by granzyme H induces cytoplasmic translocation and interferes with La-mediated HCV-IRES translational activity.18
125157232003Cell death induced by granzyme C.16
174092702007Natural killer cell-derived human granzyme H induces an alternative, caspase-independent cell-death program.15
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
177659742008Granzyme H induces apoptosis of target tumor cells characterized by DNA fragmentation and Bid-dependent mitochondrial damage.9
232692432013Identification of SERPINB1 as a physiological inhibitor of human granzyme H.8

Citation

Dessen P

GZMH (granzyme H)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64141/gzmh