Aliases for GSDMA Gene

Aliases for GSDMA Gene

  • Gasdermin A 2 3 5
  • Gasdermin-1 3 4
  • Gasdermin-A 3 4
  • GSDM1 3 4
  • GSDM 3 4
  • Gasdermin 1 2
  • Gasdermin 2
  • FKSG9 3

External Ids for GSDMA Gene

Previous HGNC Symbols for GSDMA Gene

  • GSDM
  • GSDM1

Previous GeneCards Identifiers for GSDMA Gene

  • GC17P035373
  • GC17P038119
  • GC17P033913

Summaries for GSDMA Gene

GeneCards Summary for GSDMA Gene

GSDMA (Gasdermin A) is a Protein Coding gene. Diseases associated with GSDMA include Inflammatory Bowel Disease 22 and Gastric Cancer. An important paralog of this gene is GSDMC.

UniProtKB/Swiss-Prot Summary for GSDMA Gene

  • May promote pyroptosis (Probable). Upon cleavage in vitro of genetically engineered GSDMA, the released N-terminal moiety binds to some types of lipids, such as possibly phosphatidylinositol (4,5)-bisphosphate. Homooligomerizes within the membrane and forms pores of 10 -15 nanometers (nm) of inner diameter, triggering cell death. Also binds to bacterial and mitochondrial lipids, including cardiolipin, and exhibits bactericidal activity (PubMed:27281216). The physiological relevance of these observations is unknown (Probable).

Additional gene information for GSDMA Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GSDMA Gene

Genomics for GSDMA Gene

GeneHancer (GH) Regulatory Elements for GSDMA Gene

Promoters and enhancers for GSDMA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J039952 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 530.4 -0.2 -188 1.9 NRF1 POLR2G ZIC2 CTBP1 POLR2A ZBTB26 NFYB ZNF341 SIN3A KDM5B GSDMA lnc-ORMDL3-3 GSDMB PSMD3
GH17J039962 Promoter 0.5 EPDnew 528.6 +9.7 9722 0.1 ZFHX2 EGR2 GSDMA RF00017-2374
GH17J039978 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 50.7 +27.5 27463 4.6 RXRA EP300 FOXK2 HNRNPK ZBTB40 ZNF217 CTCF SIN3A NRF1 TCF12 PSMD3 lnc-MED24-7 CDK12 MED1 SMARCE1 GSDMA SNORD124 MED24 MSL1 LRRC3C
GH17J040062 Promoter/Enhancer 2.8 VISTA EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 20.3 +116.0 115954 15 HNRNPK EP300 CTCF TCF12 NRF1 ZNF300 POLR2G NCOR1 TEAD4 PHB2 THRA MED24 MED1 GSDMA SMARCE1 MSL1 RAPGEFL1 PSMD3 TCAP ORMDL3
GH17J039972 Promoter/Enhancer 1 Ensembl ENCODE 53.5 +19.1 19096 0.3 TAF9B ZNF316 MAFF PBX2 NFE2 MAFK MAFG EGR1 ETV1 DPF2 RF00017-2374 GSDMA MED24
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GSDMA on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GSDMA

Top Transcription factor binding sites by QIAGEN in the GSDMA gene promoter:
  • AML1a
  • c-Ets-1
  • C/EBPalpha
  • E47
  • HOXA5
  • ITF-2
  • LCR-F1
  • NRSF form 1
  • NRSF form 2
  • Tal-1beta

Genomic Locations for GSDMA Gene

Genomic Locations for GSDMA Gene
chr17:39,953,263-39,977,880
(GRCh38/hg38)
Size:
24,618 bases
Orientation:
Plus strand
chr17:38,119,226-38,134,019
(GRCh37/hg19)
Size:
14,794 bases
Orientation:
Plus strand

Genomic View for GSDMA Gene

Genes around GSDMA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GSDMA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GSDMA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GSDMA Gene

Proteins for GSDMA Gene

  • Protein details for GSDMA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96QA5-GSDMA_HUMAN
    Recommended name:
    Gasdermin-A
    Protein Accession:
    Q96QA5
    Secondary Accessions:
    • Q32MC5
    • Q86VE7
    • Q8N1M6

    Protein attributes for GSDMA Gene

    Size:
    445 amino acids
    Molecular mass:
    49365 Da
    Quaternary structure:
    • The N-terminal moiety forms homooligomer; disulfide-linked. May form an 16-mer complex. Oligomerization occurs in the presence of membranes.

neXtProt entry for GSDMA Gene

Post-translational modifications for GSDMA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GSDMA Gene

No data available for DME Specific Peptides for GSDMA Gene

Domains & Families for GSDMA Gene

Gene Families for GSDMA Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for GSDMA Gene

Suggested Antigen Peptide Sequences for GSDMA Gene

GenScript: Design optimal peptide antigens:
  • Gasdermin-1 (GSDMA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96QA5

UniProtKB/Swiss-Prot:

GSDMA_HUMAN :
  • Intramolecular interactions between N- and C-terminal domains may be important for autoinhibition in the absence of activation signal. The intrinsic pyroptosis-inducing activity is carried by the N-terminal domain.
  • Belongs to the gasdermin family.
Domain:
  • Intramolecular interactions between N- and C-terminal domains may be important for autoinhibition in the absence of activation signal. The intrinsic pyroptosis-inducing activity is carried by the N-terminal domain.
Family:
  • Belongs to the gasdermin family.
genes like me logo Genes that share domains with GSDMA: view

Function for GSDMA Gene

Molecular function for GSDMA Gene

UniProtKB/Swiss-Prot Function:
May promote pyroptosis (Probable). Upon cleavage in vitro of genetically engineered GSDMA, the released N-terminal moiety binds to some types of lipids, such as possibly phosphatidylinositol (4,5)-bisphosphate. Homooligomerizes within the membrane and forms pores of 10 -15 nanometers (nm) of inner diameter, triggering cell death. Also binds to bacterial and mitochondrial lipids, including cardiolipin, and exhibits bactericidal activity (PubMed:27281216). The physiological relevance of these observations is unknown (Probable).

Phenotypes From GWAS Catalog for GSDMA Gene

Gene Ontology (GO) - Molecular Function for GSDMA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding IBA 21873635
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IBA 21873635
GO:0070273 phosphatidylinositol-4-phosphate binding IBA 21873635
genes like me logo Genes that share ontologies with GSDMA: view
genes like me logo Genes that share phenotypes with GSDMA: view

Animal Model Products

CRISPR Products

miRNA for GSDMA Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GSDMA

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GSDMA Gene

Localization for GSDMA Gene

Subcellular locations from UniProtKB/Swiss-Prot for GSDMA Gene

Cytoplasm, perinuclear region. Cytoplasm, cytosol. Cell membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GSDMA gene
Compartment Confidence
plasma membrane 4
cytosol 4
nucleus 3
mitochondrion 2
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GSDMA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0048471 perinuclear region of cytoplasm IDA,IEA 17471240
genes like me logo Genes that share ontologies with GSDMA: view

Pathways & Interactions for GSDMA Gene

PathCards logo

SuperPathways for GSDMA Gene

No Data Available

Gene Ontology (GO) - Biological Process for GSDMA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IDA 17471240
GO:0012501 programmed cell death IEA --
GO:0070269 pyroptosis IBA 21873635
genes like me logo Genes that share ontologies with GSDMA: view

No data available for Pathways by source and SIGNOR curated interactions for GSDMA Gene

Drugs & Compounds for GSDMA Gene

No Compound Related Data Available

Transcripts for GSDMA Gene

mRNA/cDNA for GSDMA Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GSDMA

Alternative Splicing Database (ASD) splice patterns (SP) for GSDMA Gene

No ASD Table

Relevant External Links for GSDMA Gene

GeneLoc Exon Structure for
GSDMA

Expression for GSDMA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GSDMA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GSDMA Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x26.2) and Skin - Not Sun Exposed (Suprapubic) (x20.4).

Protein differential expression in normal tissues from HIPED for GSDMA Gene

This gene is overexpressed in Saliva (31.5), Urine (10.4), Plasma (9.6), Oral epithelium (8.4), and Tlymphocyte (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GSDMA Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GSDMA

SOURCE GeneReport for Unigene cluster for GSDMA Gene:

Hs.448873

mRNA Expression by UniProt/SwissProt for GSDMA Gene:

Q96QA5-GSDMA_HUMAN
Tissue specificity: Expressed predominantly in the gastrointestinal tract and, at a lower level, in the skin. Also detected in mammary gland. In the gastrointestinal tract, mainly expressed in differentiated cells, including the differentiated cell layer of esophagus and mucus-secreting pit cells of the gastric epithelium. Down-regulateded in gastric cancer cells.

Evidence on tissue expression from TISSUES for GSDMA Gene

  • Stomach(4.2)
  • Skin(2.3)
genes like me logo Genes that share expression patterns with GSDMA: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GSDMA Gene

Orthologs for GSDMA Gene

This gene was present in the common ancestor of chordates.

Orthologs for GSDMA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GSDMA 31 30
  • 99.33 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GSDMA 31 30
  • 88.69 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GSDMA 31 30
  • 88.14 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gsdma 17 31 30
  • 85.69 (n)
Gsdma2 31
  • 76 (a)
OneToMany
Gsdma3 31
  • 72 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Gsdma 30
  • 83.9 (n)
oppossum
(Monodelphis domestica)
Mammalia GSDMA 31
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 61 (a)
OneToMany
-- 31
  • 60 (a)
OneToMany
chicken
(Gallus gallus)
Aves GSDMA 31 30
  • 49.84 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 26 (a)
OneToMany
Species where no ortholog for GSDMA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for GSDMA Gene

ENSEMBL:
Gene Tree for GSDMA (if available)
TreeFam:
Gene Tree for GSDMA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GSDMA: view image

Paralogs for GSDMA Gene

Paralogs for GSDMA Gene

(1) SIMAP similar genes for GSDMA Gene using alignment to 2 proteins:

  • GSDMA_HUMAN
  • J3KRG2_HUMAN
genes like me logo Genes that share paralogs with GSDMA: view

Variants for GSDMA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GSDMA Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs58338887 Benign: not specified 39,970,658(+) AACAC/A INTRON_VARIANT
rs3894194 - p.Arg18Gln
rs56030650 - p.Thr314Asn
rs7212938 - p.Val128Leu
rs7212944 - p.Glu130Lys

Additional dbSNP identifiers (rs#s) for GSDMA Gene

Structural Variations from Database of Genomic Variants (DGV) for GSDMA Gene

Variant ID Type Subtype PubMed ID
esv1007042 CNV gain 20482838
esv3386093 CNV insertion 20981092
esv3573064 CNV gain 25503493
nsv1123130 CNV deletion 24896259
nsv1146669 OTHER inversion 26484159

Variation tolerance for GSDMA Gene

Residual Variation Intolerance Score: 89% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 23.09; 99.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GSDMA Gene

Human Gene Mutation Database (HGMD)
GSDMA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GSDMA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GSDMA Gene

Disorders for GSDMA Gene

MalaCards: The human disease database

(2) MalaCards diseases for GSDMA Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
inflammatory bowel disease 22
  • ibd22
gastric cancer
  • gastric cancer, somatic
- elite association - COSMIC cancer census association via MalaCards
Search GSDMA in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GSDMA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GSDMA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GSDMA Gene

Publications for GSDMA Gene

  1. Distinctive expression and function of four GSDM family genes (GSDMA-D) in normal and malignant upper gastrointestinal epithelium. (PMID: 19051310) Saeki N … Sasaki H (Genes, chromosomes & cancer 2009) 3 4 23 54
  2. GASDERMIN, suppressed frequently in gastric cancer, is a target of LMO1 in TGF-beta-dependent apoptotic signalling. (PMID: 17471240) Saeki N … Sasaki H (Oncogene 2007) 3 4 23 54
  3. 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. (PMID: 17350798) Tamura M … Shiroishi T (Genomics 2007) 2 3 23 54
  4. Evolutionary recombination hotspot around GSDML-GSDM locus is closely linked to the oncogenomic recombination hotspot around the PPP1R1B-ERBB2-GRB7 amplicon. (PMID: 15010812) Katoh M … Katoh M (International journal of oncology 2004) 2 3 23 54
  5. Gasdermin (Gsdm) localizing to mouse Chromosome 11 is predominantly expressed in upper gastrointestinal tract but significantly suppressed in human gastric cancer cells. (PMID: 10967128) Saeki N … Shiroishi T (Mammalian genome : official journal of the International Mammalian Genome Society 2000) 3 4 23 54

Products for GSDMA Gene

Sources for GSDMA Gene