GSDME (gasdermin E)

2017-10-01  

Identity

HGNC
GSDME
LOCATION
7p15.3
LOCUSID
1687
ALIAS
DFNA5,ICERE-1

Other Information

Locus ID:

NCBI: 1687
MIM: 608798
HGNC: 2810
Ensembl: ENSG00000105928

Variants:

dbSNP: 1687
ClinVar: 1687
TCGA: ENSG00000105928
COSMIC: GSDME

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105928ENST00000342947O60443
ENSG00000105928ENST00000342947A0A024RA58
ENSG00000105928ENST00000409970O60443
ENSG00000105928ENST00000414428C9JSR4
ENSG00000105928ENST00000415480H7BZJ0
ENSG00000105928ENST00000419307O60443
ENSG00000105928ENST00000430096H7C0L2
ENSG00000105928ENST00000446822H7C147
ENSG00000105928ENST00000645220O60443
ENSG00000105928ENST00000645220A0A024RA58

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
284594302017Chemotherapy drugs induce pyroptosis through caspase-3 cleavage of a gasdermin.156
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
182236882008Aberrant promoter methylation and tumor suppressive activity of the DFNA5 gene in colorectal carcinoma.39
168971872006The potential role of DFNA5, a hearing impairment gene, in p53-mediated cellular response to DNA damage.27
183464562008Methylation of the DFNA5 increases risk of lymph node metastasis in human breast cancer.27
215221852011The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein.26
145592152003A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family.24
146764722004A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation.23
309760762019Gasdermin pores permeabilize mitochondria to augment caspase-3 activation during apoptosis and inflammasome activation.21
291837262018GSDME mediates caspase-3-dependent pyroptosis in gastric cancer.18

Citation

Dessen P

GSDME (gasdermin E)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57150/gsdme