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GSDMA (gasdermin A)

Written2010-11Norihisa Saeki, Hiroki Sasaki
Genetics Division, National Cancer Center Research Institute, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045, Japan

(Note : for Links provided by Atlas : click)

Identity

Alias_namesGSDM
GSDM1
gasdermin
gasdermin 1
Alias_symbol (synonym)FLJ39120
Other aliasMGC129596
HGNC (Hugo) GSDMA
LocusID (NCBI) 284110
Atlas_Id 45650
Location 17q21.1  [Link to chromosome band 17q21]
Location_base_pair Starts at 39962973 and ends at 39977766 bp from pter ( according to hg19-Feb_2009)  [Mapping GSDMA.png]
Local_order Telomeric to ORMDL3 and GSDMB genes; centromeric to PSMD3 gene.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
THRA (17q21.1) / GSDMA (17q21.1)
Note GSDMA is the first member of Gasdermin family genes which, with Gadermin-related genes, DFNA5 and DFNB59, form Gasdermin superfamily.

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.

Protein

 
  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

Note
  
Entity 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 Esophageal cancer
Note GSDMA gene is frequently silenced in esophageal squamous cell carcinoma (41 in 42 cases examined).
  

Bibliography

Mutations in gasdermin 3 cause aberrant differentiation of the hair follicle and sebaceous gland.
Lunny DP, Weed E, Nolan PM, Marquardt A, Augustin M, Porter RM.
J Invest Dermatol. 2005 Mar;124(3):615-21.
PMID 15737203
 
GASDERMIN, suppressed frequently in gastric cancer, is a target of LMO1 in TGF-beta-dependent apoptotic signalling.
Saeki N, Kim DH, Usui T, Aoyagi K, Tatsuta T, Aoki K, Yanagihara K, Tamura M, Mizushima H, Sakamoto H, Ogawa K, Ohki M, Shiroishi T, Yoshida T, Sasaki H.
Oncogene. 2007 Oct 4;26(45):6488-98. Epub 2007 Apr 30.
PMID 17471240
 
Gasdermin (Gsdm) localizing to mouse Chromosome 11 is predominantly expressed in upper gastrointestinal tract but significantly suppressed in human gastric cancer cells.
Saeki N, Kuwahara Y, Sasaki H, Satoh H, Shiroishi T.
Mamm Genome. 2000 Sep;11(9):718-24.
PMID 10967128
 
Distinctive expression and function of four GSDM family genes (GSDMA-D) in normal and malignant upper gastrointestinal epithelium.
Saeki N, Usui T, Aoyagi K, Kim DH, Sato M, Mabuchi T, Yanagihara K, Ogawa K, Sakamoto H, Yoshida T, Sasaki H.
Genes Chromosomes Cancer. 2009 Mar;48(3):261-71.
PMID 19051310
 
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, Tanaka S, Fujii T, Aoki A, Komiyama H, Ezawa K, Sumiyama K, Sagai T, Shiroishi T.
Genomics. 2007 May;89(5):618-29. Epub 2007 Mar 12.
PMID 17350798
 

Citation

This paper should be referenced as such :
Saeki, N ; Sasaki, H
GSDMA (gasdermin A)
Atlas Genet Cytogenet Oncol Haematol. 2011;15(7):560-561.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/GSDMAID45650ch17q21.html


External links

Nomenclature
HGNC (Hugo)GSDMA   13311
Cards
AtlasGSDMAID45650ch17q21
Entrez_Gene (NCBI)GSDMA  284110  gasdermin A
AliasesFKSG9; GSDM; GSDM1
GeneCards (Weizmann)GSDMA
Ensembl hg19 (Hinxton)ENSG00000167914 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167914 [Gene_View]  chr17:39962973-39977766 [Contig_View]  GSDMA [Vega]
ICGC DataPortalENSG00000167914
TCGA cBioPortalGSDMA
AceView (NCBI)GSDMA
Genatlas (Paris)GSDMA
WikiGenes284110
SOURCE (Princeton)GSDMA
Genetics Home Reference (NIH)GSDMA
Genomic and cartography
GoldenPath hg38 (UCSC)GSDMA  -     chr17:39962973-39977766 +  17q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GSDMA  -     17q21.1   [Description]    (hg19-Feb_2009)
EnsemblGSDMA - 17q21.1 [CytoView hg19]  GSDMA - 17q21.1 [CytoView hg38]
Mapping of homologs : NCBIGSDMA [Mapview hg19]  GSDMA [Mapview hg38]
OMIM611218   
Gene and transcription
Genbank (Entrez)AA826386 AB093591 AF307953 AK096439 BC109197
RefSeq transcript (Entrez)NM_178171
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GSDMA
Cluster EST : UnigeneHs.448873 [ NCBI ]
CGAP (NCI)Hs.448873
Alternative Splicing GalleryENSG00000167914
Gene ExpressionGSDMA [ NCBI-GEO ]   GSDMA [ EBI - ARRAY_EXPRESS ]   GSDMA [ SEEK ]   GSDMA [ MEM ]
Gene Expression Viewer (FireBrowse)GSDMA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)284110
GTEX Portal (Tissue expression)GSDMA
Human Protein AtlasENSG00000167914-GSDMA [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96QA5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96QA5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96QA5
Splice isoforms : SwissVarQ96QA5
PhosPhoSitePlusQ96QA5
Domains : Interpro (EBI)Gasdermin   
Domain families : Pfam (Sanger)Gasdermin (PF04598)   
Domain families : Pfam (NCBI)pfam04598   
Conserved Domain (NCBI)GSDMA
DMDM Disease mutations284110
Blocks (Seattle)GSDMA
SuperfamilyQ96QA5
Human Protein Atlas [tissue]ENSG00000167914-GSDMA [tissue]
Peptide AtlasQ96QA5
HPRD17081
IPIIPI00166200   
Protein Interaction databases
DIP (DOE-UCLA)Q96QA5
IntAct (EBI)Q96QA5
FunCoupENSG00000167914
BioGRIDGSDMA
STRING (EMBL)GSDMA
ZODIACGSDMA
Ontologies - Pathways
QuickGOQ96QA5
Ontology : AmiGOcytosol  plasma membrane  apoptotic process  perinuclear region of cytoplasm  
Ontology : EGO-EBIcytosol  plasma membrane  apoptotic process  perinuclear region of cytoplasm  
NDEx NetworkGSDMA
Atlas of Cancer Signalling NetworkGSDMA
Wikipedia pathwaysGSDMA
Orthology - Evolution
OrthoDB284110
GeneTree (enSembl)ENSG00000167914
Phylogenetic Trees/Animal Genes : TreeFamGSDMA
HOVERGENQ96QA5
HOGENOMQ96QA5
Homologs : HomoloGeneGSDMA
Homology/Alignments : Family Browser (UCSC)GSDMA
Gene fusions - Rearrangements
Fusion : MitelmanTHRA/GSDMA [17q21.1/17q21.1]  [t(17;17)(q21;q21)]  
Fusion: TCGA_MDACCTHRA 17q21.1 GSDMA 17q21.1 GBM
Tumor Fusion PortalGSDMA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGSDMA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GSDMA
dbVarGSDMA
ClinVarGSDMA
1000_GenomesGSDMA 
Exome Variant ServerGSDMA
ExAC (Exome Aggregation Consortium)ENSG00000167914
GNOMAD BrowserENSG00000167914
Genetic variants : HAPMAP284110
Genomic Variants (DGV)GSDMA [DGVbeta]
DECIPHERGSDMA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGSDMA 
Mutations
ICGC Data PortalGSDMA 
TCGA Data PortalGSDMA 
Broad Tumor PortalGSDMA
OASIS PortalGSDMA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGSDMA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGSDMA
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GSDMA
DgiDB (Drug Gene Interaction Database)GSDMA
DoCM (Curated mutations)GSDMA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GSDMA (select a term)
intoGenGSDMA
NCG5 (London)GSDMA
Cancer3DGSDMA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611218   
Orphanet
DisGeNETGSDMA
MedgenGSDMA
Genetic Testing Registry GSDMA
NextProtQ96QA5 [Medical]
TSGene284110
GENETestsGSDMA
Target ValidationGSDMA
Huge Navigator GSDMA [HugePedia]
snp3D : Map Gene to Disease284110
BioCentury BCIQGSDMA
ClinGenGSDMA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD284110
Chemical/Pharm GKB GenePA162390274
Clinical trialGSDMA
Miscellaneous
canSAR (ICR)GSDMA (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGSDMA
EVEXGSDMA
GoPubMedGSDMA
iHOPGSDMA
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:51:58 CET 2017

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