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Aliases for GSDMA Gene

Aliases for GSDMA Gene

  • Gasdermin A 2 3 5
  • Gasdermin-1 3 4
  • GSDM1 3 4
  • GSDM 3 4
  • Gasdermin-A 3
  • 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 Retinitis Pigmentosa 23. An important paralog of this gene is GSDMD.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies 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 1.4 Ensembl ENCODE 680.5 -0.1 -99 1.6 HDGF PKNOX1 ARID4B SIN3A YY1 ETS1 POLR2B GLIS2 SP3 RXRA GSDMA GSDMB PSMD3 GC17M039945
GH17J039962 Promoter 0.7 EPDnew 678.6 +9.7 9722 0.1 ZFHX2 EGR2 GSDMA PSMD3
GH17J039978 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 50.7 +27.2 27208 4 MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 PSMD3 MED1 CDK12 SMARCE1 GSDMA MSL1 MED24 RARA LOC105371776 LINC02079
GH17J040061 Promoter/Enhancer 3 VISTA EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20.3 +116.0 116032 14.8 CLOCK MLX ZFP64 FEZF1 YY1 SLC30A9 ZNF143 SP3 PPARGC1A MEF2D THRA GC17P040067 MED1 SMARCE1 CDK12 MED24 MSL1 GSDMA RPL19 RARA
GH17J040088 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 15.4 +142.1 142084 14.4 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 NR1D1 CDK12 MED1 SMARCE1 MSL1 RARA RPL19 MED24 GSDMA CCR7
- 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

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

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GSDMA Gene

GenScript: Design optimal peptide antigens:

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 --
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IBA --
GO:0070273 phosphatidylinositol-4-phosphate binding IBA --
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

Clone Products

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
cytosol 5
plasma membrane 4
nucleus 3
mitochondrion 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 IBA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0048471 perinuclear region of cytoplasm IEA,IDA 17471240
genes like me logo Genes that share ontologies with GSDMA: view

Pathways & Interactions for GSDMA Gene

SuperPathways for GSDMA Gene

No Data Available

Interacting Proteins for GSDMA Gene

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:0042742 defense response to bacterium IBA --
GO:0070269 pyroptosis IBA --
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

(6) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GSDMA Gene

Gasdermin A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

No ASD Table

Relevant External Links for GSDMA Gene

GeneLoc Exon Structure for
GSDMA
ECgene alternative splicing isoforms for
GSDMA

Expression for GSDMA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of GSDMA Gene:

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 34 33
  • 99.33 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GSDMA 34 33
  • 88.69 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GSDMA 34 33
  • 88.14 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gsdma 16 34 33
  • 85.69 (n)
Gsdma2 34
  • 76 (a)
OneToMany
Gsdma3 34
  • 72 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Gsdma 33
  • 83.9 (n)
oppossum
(Monodelphis domestica)
Mammalia GSDMA 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 61 (a)
OneToMany
-- 34
  • 60 (a)
OneToMany
chicken
(Gallus gallus)
Aves GSDMA 34 33
  • 49.84 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 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 from dbSNP and Humsavar for GSDMA Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs58338887 benign, not specified 39,970,659(+) ACACACACACACACACACACACACAC/ACACACACACACACAC/ACACACACACACACACAC/ACACACACACACACACACAC/ACACACACACACACACACACAC/ACACACACACACACACACACACAC/ACACACACACACACACACACACACACAC intron_variant
rs1000054248 -- 39,962,005(+) A/G upstream_transcript_variant
rs1000210167 -- 39,976,947(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs1000323408 -- 39,970,201(+) G/A/C intron_variant
rs1000426677 -- 39,962,301(+) G/A upstream_transcript_variant

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

(1) MalaCards diseases for GSDMA Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 23
  • rp23
- 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 22 58
  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 22 58
  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 22 58
  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 22 58
  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 22 58

Products for GSDMA Gene

Sources for GSDMA Gene

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