GSDMA (gasdermin A)

2010-11-01   Norihisa Saeki  , Hiroki Sasaki  

Genetics Division, National Cancer Center Research Institute, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045, Japan

Identity

HGNC
GSDMA
LOCATION
17q21.1
LOCUSID
284110
ALIAS
FKSG9,GSDM,GSDM1
FUSION GENES
Show Gene Fusions

DNA/RNA

Atlas Image
Genomic organization of the GSDMA gene.

Description

12 exons, spans approximately 13 kb of genomic DNA in the centromere-to-telomere orientation. The translation initiation codon is located to exon 2, and the stop codon to exon 12.

Transcription

mRNA of approximately 1.5 kb.

Pseudogene

Not reported.

Proteins

Atlas Image
GSDMA is involved in TGF-beta signaling which regulates apoptosis induction in pit cells of the gastric epithelium. Signaling from TGF-beta receptor up-regulates LMO1, a transcription factor. LMO1 binds to the promoter of GSDMA gene and enhances its expression, that results in the apoptosis induction in the pit cells.

Description

The GSDMA gene encodes a 445 amino acid protein with estimated molecular weight of 49377.95 Da. The Gasdermin family proteins have 9 conserved motifs but no known functional motif.

Expression

GSDMA protein is expressed in pit cells of the gastric epithelium, where it is involved in maintenance of homeostasis by its apoptosis induction ability under TGF-beta signaling. Its expression was also observed in epithelial cells of the esophagus, skin and mammary gland.

Localisation

Cytoplasm.

Function

Apoptosis induction, but detail is unknown.

Homology

Human genome possesses its three paralogues, GSDMB, GSDMC and GSDMD. Both N- and C-terminal amino acids are conserved among them.

Mutations

Germinal

Not reported.

Somatic

Not reported.

Implicated in

Entity name
Gastric cancer
Note
GSDMA gene is frequently silenced in gastric adenocarcinoma (16 in 18 cases examined including both diffuse and intestinal types), whose relation to prognosis is unknown.
Entity name
Esophageal cancer
Note
GSDMA gene is frequently silenced in esophageal squamous cell carcinoma (41 in 42 cases examined).

Article Bibliography

Pubmed IDLast YearTitleAuthors
157372032005Mutations in gasdermin 3 cause aberrant differentiation of the hair follicle and sebaceous gland.Lunny DP et al
174712402007GASDERMIN, suppressed frequently in gastric cancer, is a target of LMO1 in TGF-beta-dependent apoptotic signalling.Saeki N et al
109671282000Gasdermin (Gsdm) localizing to mouse Chromosome 11 is predominantly expressed in upper gastrointestinal tract but significantly suppressed in human gastric cancer cells.Saeki N et al
190513102009Distinctive expression and function of four GSDM family genes (GSDMA-D) in normal and malignant upper gastrointestinal epithelium.Saeki N et al
173507982007Members of a novel gene family, Gsdm, are expressed exclusively in the epithelium of the skin and gastrointestinal tract in a highly tissue-specific manner.Tamura M et al

Other Information

Locus ID:

NCBI: 284110
MIM: 611218
HGNC: 13311
Ensembl: ENSG00000167914

Variants:

dbSNP: 284110
ClinVar: 284110
TCGA: ENSG00000167914
COSMIC: GSDMA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167914ENST00000301659Q96QA5
ENSG00000167914ENST00000577447J3KRG2
ENSG00000167914ENST00000635792Q96QA5

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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

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
skin 1
skin 2
hair
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
376722042024Overexpressed FAM111B degrades GSDMA to promote esophageal cancer tumorigenesis and cisplatin resistance.1
376722042024Overexpressed FAM111B degrades GSDMA to promote esophageal cancer tumorigenesis and cisplatin resistance.1
369655772023Gasdermin A Is Required for Epidermal Cornification during Skin Barrier Regeneration and in an Atopic Dermatitis-Like Model.8
374628072023Role of GSDM family members in airway epithelial cells of lung diseases: a systematic and comprehensive transcriptomic analysis.1
369655772023Gasdermin A Is Required for Epidermal Cornification during Skin Barrier Regeneration and in an Atopic Dermatitis-Like Model.8
374628072023Role of GSDM family members in airway epithelial cells of lung diseases: a systematic and comprehensive transcriptomic analysis.1
324969972021Association between Gasdermin A, Gasdermin B Polymorphisms and Allergic Rhinitis Amongst Jordanians.1
347310882021Integrated analysis of expression, prognostic value and immune infiltration of GSDMs in hepatocellular carcinoma.17
324969972021Association between Gasdermin A, Gasdermin B Polymorphisms and Allergic Rhinitis Amongst Jordanians.1
347310882021Integrated analysis of expression, prognostic value and immune infiltration of GSDMs in hepatocellular carcinoma.17
323126742020Asthma-associated polymorphisms in 17q12-21 locus modulate methylation and gene expression of GSDMA in naïve CD4(+) T cells.6
323126742020Asthma-associated polymorphisms in 17q12-21 locus modulate methylation and gene expression of GSDMA in naïve CD4(+) T cells.6
293482972018Changes in macrophage transcriptome associate with systemic sclerosis and mediate GSDMA contribution to disease risk.36
293482972018Changes in macrophage transcriptome associate with systemic sclerosis and mediate GSDMA contribution to disease risk.36
282410632017Role of DNA methylation in expression control of the IKZF3-GSDMA region in human epithelial cells.19

Citation

Norihisa Saeki ; Hiroki Sasaki

GSDMA (gasdermin A)

Atlas Genet Cytogenet Oncol Haematol. 2010-11-01

Online version: http://atlasgeneticsoncology.org/gene/45650