GSDMA (gasdermin A)
2010-11-01 Norihisa Saeki , Hiroki Sasaki AffiliationGenetics Division, National Cancer Center Research Institute, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045, Japan
Identity
HGNC
LOCATION
17q21.1
LOCUSID
ALIAS
FKSG9,GSDM,GSDM1
FUSION GENES
DNA/RNA
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
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.
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 ID | Last Year | Title | Authors |
|---|---|---|---|
| 15737203 | 2005 | Mutations in gasdermin 3 cause aberrant differentiation of the hair follicle and sebaceous gland. | Lunny DP et al |
| 17471240 | 2007 | GASDERMIN, suppressed frequently in gastric cancer, is a target of LMO1 in TGF-beta-dependent apoptotic signalling. | Saeki N et al |
| 10967128 | 2000 | Gasdermin (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 |
| 19051310 | 2009 | Distinctive expression and function of four GSDM family genes (GSDMA-D) in normal and malignant upper gastrointestinal epithelium. | Saeki N et al |
| 17350798 | 2007 | Members 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 ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000167914 | ENST00000301659 | Q96QA5 |
| ENSG00000167914 | ENST00000577447 | J3KRG2 |
| ENSG00000167914 | ENST00000635792 | Q96QA5 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37672204 | 2024 | Overexpressed FAM111B degrades GSDMA to promote esophageal cancer tumorigenesis and cisplatin resistance. | 1 |
| 37672204 | 2024 | Overexpressed FAM111B degrades GSDMA to promote esophageal cancer tumorigenesis and cisplatin resistance. | 1 |
| 36965577 | 2023 | Gasdermin A Is Required for Epidermal Cornification during Skin Barrier Regeneration and in an Atopic Dermatitis-Like Model. | 8 |
| 37462807 | 2023 | Role of GSDM family members in airway epithelial cells of lung diseases: a systematic and comprehensive transcriptomic analysis. | 1 |
| 36965577 | 2023 | Gasdermin A Is Required for Epidermal Cornification during Skin Barrier Regeneration and in an Atopic Dermatitis-Like Model. | 8 |
| 37462807 | 2023 | Role of GSDM family members in airway epithelial cells of lung diseases: a systematic and comprehensive transcriptomic analysis. | 1 |
| 32496997 | 2021 | Association between Gasdermin A, Gasdermin B Polymorphisms and Allergic Rhinitis Amongst Jordanians. | 1 |
| 34731088 | 2021 | Integrated analysis of expression, prognostic value and immune infiltration of GSDMs in hepatocellular carcinoma. | 17 |
| 32496997 | 2021 | Association between Gasdermin A, Gasdermin B Polymorphisms and Allergic Rhinitis Amongst Jordanians. | 1 |
| 34731088 | 2021 | Integrated analysis of expression, prognostic value and immune infiltration of GSDMs in hepatocellular carcinoma. | 17 |
| 32312674 | 2020 | Asthma-associated polymorphisms in 17q12-21 locus modulate methylation and gene expression of GSDMA in naïve CD4(+) T cells. | 6 |
| 32312674 | 2020 | Asthma-associated polymorphisms in 17q12-21 locus modulate methylation and gene expression of GSDMA in naïve CD4(+) T cells. | 6 |
| 29348297 | 2018 | Changes in macrophage transcriptome associate with systemic sclerosis and mediate GSDMA contribution to disease risk. | 36 |
| 29348297 | 2018 | Changes in macrophage transcriptome associate with systemic sclerosis and mediate GSDMA contribution to disease risk. | 36 |
| 28241063 | 2017 | Role 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/gsdma
