GZMB (granzyme B)

2007-02-01  

Identity

HGNC
GZMB
LOCATION
14q12
LOCUSID
3002
ALIAS
C11,CCPI,CGL-1,CGL1,CSP-B,CSPB,CTLA1,CTSGL1,HLP,SECT
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3002
MIM: 123910
HGNC: 4709
Ensembl: ENSG00000100453

Variants:

dbSNP: 3002
ClinVar: 3002
TCGA: ENSG00000100453
COSMIC: GZMB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100453ENST00000216341P10144
ENSG00000100453ENST00000382540J3KPK2
ENSG00000100453ENST00000382542J3KPK2
ENSG00000100453ENST00000415355J3KQ52
ENSG00000100453ENST00000526004E9PRD7
ENSG00000100453ENST00000530830E9PLX4
ENSG00000100453ENST00000532263E9PID1
ENSG00000100453ENST00000554242E9PRD7
ENSG00000100453ENST00000616551Q6XGZ2

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
ApoptosisKEGGko04210
Natural killer cell mediated cytotoxicityKEGGko04650
Type I diabetes mellitusKEGGko04940
Autoimmune thyroid diseaseKEGGko05320
Allograft rejectionKEGGko05330
Graft-versus-host diseaseKEGGko05332
ApoptosisKEGGhsa04210
Natural killer cell mediated cytotoxicityKEGGhsa04650
Type I diabetes mellitusKEGGhsa04940
Autoimmune thyroid diseaseKEGGhsa05320
Allograft rejectionKEGGhsa05330
Graft-versus-host diseaseKEGGhsa05332
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202
Signal TransductionREACTOMER-HSA-162582
Signaling by NOTCHREACTOMER-HSA-157118
Signaling by NOTCH2REACTOMER-HSA-1980145
NOTCH2 intracellular domain regulates transcriptionREACTOMER-HSA-2197563
Programmed Cell DeathREACTOMER-HSA-5357801
ApoptosisREACTOMER-HSA-109581
Intrinsic Pathway for ApoptosisREACTOMER-HSA-109606
Activation, myristolyation of BID and translocation to mitochondriaREACTOMER-HSA-75108

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
152384162004Differential expression of granzymes A and B in human cytotoxic lymphocyte subsets and T regulatory cells.151
204105012010Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.102
177034122007Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes.100
241015262013Granzyme B degradation by autophagy decreases tumor cell susceptibility to natural killer-mediated lysis under hypoxia.67
156990752005Direct cleavage of ROCK II by granzyme B induces target cell membrane blebbing in a caspase-independent manner.64
233774372013Perforin forms transient pores on the target cell plasma membrane to facilitate rapid access of granzymes during killer cell attack.64
233219192013CD8(+) granzyme B(+)-mediated tissue injury vs. CD4(+)IFNγ(+)-mediated parasite killing in human cutaneous leishmaniasis.63
158433722005Extracellular matrix remodeling by human granzyme B via cleavage of vitronectin, fibronectin, and laminin.61
185232742008Histone acetylation facilitates rapid and robust memory CD8 T cell response through differential expression of effector molecules (eomesodermin and its targets: perforin and granzyme B).61
144992622003Granzyme B: pro-apoptotic, antiviral and antitumor functions.60

Citation

Dessen P

GZMB (granzyme B)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45957/gzmb