Gasdermin D is a member of the gasdermin family. Members of this family appear to play a role in regulation of epithelial proliferation. Gasdermin D has been suggested to act as a tumor suppressor. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009] See more...

Aliases for GSDMD Gene

Aliases for GSDMD Gene

  • Gasdermin D 2 3 5
  • Gasdermin Domain-Containing Protein 1 3 4
  • Gasdermin Domain Containing 1 2 3
  • Gasdermin-D 3 4
  • GSDMDC1 3 4
  • DFNA5L 3 4
  • DF5L 2 3
  • FLJ12150 2
  • FKSG10 3
  • GSDMD 5

External Ids for GSDMD Gene

Previous HGNC Symbols for GSDMD Gene

  • GSDMDC1

Previous GeneCards Identifiers for GSDMD Gene

  • GC08P144712
  • GC08P144640
  • GC08P139886
  • GC08P144641

Summaries for GSDMD Gene

Entrez Gene Summary for GSDMD Gene

  • Gasdermin D is a member of the gasdermin family. Members of this family appear to play a role in regulation of epithelial proliferation. Gasdermin D has been suggested to act as a tumor suppressor. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]

GeneCards Summary for GSDMD Gene

GSDMD (Gasdermin D) is a Protein Coding gene. Diseases associated with GSDMD include Cinca Syndrome. Among its related pathways are Salmonella infection (KEGG) and Innate Immune System. An important paralog of this gene is GSDMA.

UniProtKB/Swiss-Prot Summary for GSDMD Gene

  • [Gasdermin-D]: Precursor of a pore-forming protein that plays a key role in host defense against pathogen infection and danger signals (PubMed:26375003, PubMed:26375259, PubMed:27281216). This form constitutes the precursor of the pore-forming protein: upon cleavage, the released N-terminal moiety (Gasdermin-D, N-terminal) binds to membranes and forms pores, triggering pyroptosis (PubMed:26375003, PubMed:26375259, PubMed:27281216).
  • [Gasdermin-D, N-terminal]: Promotes pyroptosis in response to microbial infection and danger signals (PubMed:26375003, PubMed:26375259, PubMed:27418190, PubMed:28392147, PubMed:32820063). Produced by the cleavage of gasdermin-D by inflammatory caspases CASP1, CASP4 or CASP5 in response to canonical, as well as non-canonical (such as cytosolic LPS) inflammasome activators (PubMed:26375003, PubMed:26375259, PubMed:27418190). After cleavage, moves to the plasma membrane where it strongly binds to inner leaflet lipids, including monophosphorylated phosphatidylinositols, such as phosphatidylinositol 4-phosphate, bisphosphorylated phosphatidylinositols, such as phosphatidylinositol (4,5)-bisphosphate, as well as phosphatidylinositol (3,4,5)-bisphosphate, and more weakly to phosphatidic acid and phosphatidylserine (PubMed:27281216, PubMed:29898893). Homooligomerizes within the membrane and forms pores of 10-15 nanometers (nm) of inner diameter, allowing the release of mature IL1B and triggering pyroptosis (PubMed:27418190, PubMed:27281216, PubMed:29898893). Exhibits bactericidal activity (PubMed:27281216). Gasdermin-D, N-terminal released from pyroptotic cells into the extracellular milieu rapidly binds to and kills both Gram-negative and Gram-positive bacteria, without harming neighboring mammalian cells, as it does not disrupt the plasma membrane from the outside due to lipid-binding specificity (PubMed:27281216). Under cell culture conditions, also active against intracellular bacteria, such as Listeria monocytogenes (By similarity). Also active in response to MAP3K7/TAK1 inactivation by Yersinia toxin YopJ, which triggers cleavage by CASP8 and subsequent activation (By similarity). Strongly binds to bacterial and mitochondrial lipids, including cardiolipin (PubMed:27281216). Does not bind to unphosphorylated phosphatidylinositol, phosphatidylethanolamine nor phosphatidylcholine (PubMed:27281216).

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

Genomics for GSDMD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GSDMD Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GSDMD on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the GSDMD gene promoter:
  • ER-alpha
  • HEN1
  • HNF-4alpha1
  • HOXA9
  • HOXA9B
  • HTF
  • IRF-2
  • Meis-1
  • Meis-1a
  • RFX1

Genomic Locations for GSDMD Gene

Latest Assembly
chr8:143,553,207-143,563,062
(GRCh38/hg38)
Size:
9,856 bases
Orientation:
Plus strand

Previous Assembly
chr8:144,635,557-144,645,232
(GRCh37/hg19 by Entrez Gene)
Size:
9,676 bases
Orientation:
Plus strand

chr8:144,635,377-144,645,232
(GRCh37/hg19 by Ensembl)
Size:
9,856 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr8(ALT_REF_LOCI_1):43,427-53,102 (+)

Genomic View for GSDMD Gene

Genes around GSDMD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GSDMD Gene

Proteins for GSDMD Gene

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

    Protein Symbol:
    P57764-GSDMD_HUMAN
    Recommended name:
    Gasdermin-D
    Protein Accession:
    P57764
    Secondary Accessions:
    • A8K702
    • D3DWJ9
    • Q96Q98

    Protein attributes for GSDMD Gene

    Size:
    484 amino acids
    Molecular mass:
    52801 Da
    Quaternary structure:
    • [Gasdermin-D, N-terminal]: Homooligomer; homooligomeric ring-shaped pore complex containing 27-28 subunits when inserted in the membrane (By similarity). In response to a canonical inflammasome stimulus, such as nigericin, recruited to NLRP3 inflammasone with similar kinetics to that of uncleaved CASP1 precursor (By similarity). Although this recruitment is also observed in the absence of PYCARD, it is more efficient in its presence (By similarity).

    Three dimensional structures from OCA and Proteopedia for GSDMD Gene

neXtProt entry for GSDMD Gene

Post-translational modifications for GSDMD Gene

  • Cleavage at Asp-275 by CASP1 (mature and uncleaved precursor forms), CASP4, CASP5 or CASP8 relieves autoinhibition and is sufficient to initiate pyroptosis (PubMed:26375003, PubMed:29898893, PubMed:32109412). Cleavage by CASP1 and CASP4 is not strictly dependent on the consensus cleavage site on GSDMD but depends on an exosite interface on CASP1 that recognizes and binds the Gasdermin-D, C-terminal (GSDMD-CT) part (PubMed:32109412). Cleavage by CASP8 takes place following inactivation of MAP3K7/TAK1 by Yersinia toxin YopJ (By similarity). Cleavage at Asp-87 by CASP3 or CAPS7 inactivates the ability to mediate pyroptosis (PubMed:28392147, PubMed:28045099).
  • [Gasdermin-D]: Succination of Cys-191 by the Krebs cycle intermediate fumarate, which leads to S-(2-succinyl)cysteine residues, inhibits processing by caspases, and ability to initiate pyroptosis (PubMed:32820063). Succination modification is catalyzed by a non-enzymatic reaction caused by an accumulation of fumarate (PubMed:32820063).
  • Ubiquitination at Lys51
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for GSDMD
  • Boster Bio Antibodies for GSDMD

No data available for DME Specific Peptides for GSDMD Gene

Domains & Families for GSDMD Gene

Gene Families for GSDMD Gene

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

Protein Domains for GSDMD Gene

InterPro:
Blocks:
  • DFNA5 protein

Suggested Antigen Peptide Sequences for GSDMD Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ38897 fis, clone NOVAR2000412, highly similar to Gasdermin domain-containing protein 1 (B3KTX1_HUMAN)
  • Gasdermin domain-containing protein 1 (GSDMD_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P57764

UniProtKB/Swiss-Prot:

GSDMD_HUMAN :
  • Intramolecular interactions between N- and C-terminal domains mediate autoinhibition in the absence of cleavage by inflammatory caspases CASP1, CASP4 or CASP5 (PubMed:26375003, PubMed:29898893, PubMed:28928145, PubMed:29576317). The linker helix loop inserts into the N-terminal domain (PubMed:28928145). The intrinsic pyroptosis-inducing activity is carried by Gasdermin-D, N-terminal, that is released upon cleavage by inflammatory caspases (PubMed:26375003).
  • Belongs to the gasdermin family.
Domain:
  • Intramolecular interactions between N- and C-terminal domains mediate autoinhibition in the absence of cleavage by inflammatory caspases CASP1, CASP4 or CASP5 (PubMed:26375003, PubMed:29898893, PubMed:28928145, PubMed:29576317). The linker helix loop inserts into the N-terminal domain (PubMed:28928145). The intrinsic pyroptosis-inducing activity is carried by Gasdermin-D, N-terminal, that is released upon cleavage by inflammatory caspases (PubMed:26375003).
Family:
  • Belongs to the gasdermin family.
genes like me logo Genes that share domains with GSDMD: view

Function for GSDMD Gene

Molecular function for GSDMD Gene

UniProtKB/Swiss-Prot Function:
[Gasdermin-D]: Precursor of a pore-forming protein that plays a key role in host defense against pathogen infection and danger signals (PubMed:26375003, PubMed:26375259, PubMed:27281216). This form constitutes the precursor of the pore-forming protein: upon cleavage, the released N-terminal moiety (Gasdermin-D, N-terminal) binds to membranes and forms pores, triggering pyroptosis (PubMed:26375003, PubMed:26375259, PubMed:27281216).
UniProtKB/Swiss-Prot Function:
[Gasdermin-D, N-terminal]: Promotes pyroptosis in response to microbial infection and danger signals (PubMed:26375003, PubMed:26375259, PubMed:27418190, PubMed:28392147, PubMed:32820063). Produced by the cleavage of gasdermin-D by inflammatory caspases CASP1, CASP4 or CASP5 in response to canonical, as well as non-canonical (such as cytosolic LPS) inflammasome activators (PubMed:26375003, PubMed:26375259, PubMed:27418190). After cleavage, moves to the plasma membrane where it strongly binds to inner leaflet lipids, including monophosphorylated phosphatidylinositols, such as phosphatidylinositol 4-phosphate, bisphosphorylated phosphatidylinositols, such as phosphatidylinositol (4,5)-bisphosphate, as well as phosphatidylinositol (3,4,5)-bisphosphate, and more weakly to phosphatidic acid and phosphatidylserine (PubMed:27281216, PubMed:29898893). Homooligomerizes within the membrane and forms pores of 10-15 nanometers (nm) of inner diameter, allowing the release of mature IL1B and triggering pyroptosis (PubMed:27418190, PubMed:27281216, PubMed:29898893). Exhibits bactericidal activity (PubMed:27281216). Gasdermin-D, N-terminal released from pyroptotic cells into the extracellular milieu rapidly binds to and kills both Gram-negative and Gram-positive bacteria, without harming neighboring mammalian cells, as it does not disrupt the plasma membrane from the outside due to lipid-binding specificity (PubMed:27281216). Under cell culture conditions, also active against intracellular bacteria, such as Listeria monocytogenes (By similarity). Also active in response to MAP3K7/TAK1 inactivation by Yersinia toxin YopJ, which triggers cleavage by CASP8 and subsequent activation (By similarity). Strongly binds to bacterial and mitochondrial lipids, including cardiolipin (PubMed:27281216). Does not bind to unphosphorylated phosphatidylinositol, phosphatidylethanolamine nor phosphatidylcholine (PubMed:27281216).
UniProtKB/Swiss-Prot EnzymeRegulation:
[Gasdermin-D]: The full-length protein before cleavage is inactive: intramolecular interactions between N- and C-terminal domains mediate autoinhibition in the absence of activation signal (PubMed:26375003, PubMed:28928145, PubMed:29576317, PubMed:32109412). The intrinsic pyroptosis-inducing activity is carried by the released N-terminal moiety (Gasdermin-D, N-terminal) following cleavage by caspases CASP1, CASP4, CASP5 or CASP8 (PubMed:26375003, PubMed:26375259, PubMed:27418190, PubMed:29898893, PubMed:32109412). Cleavage at Asp-87 by CASP3 or CAPS7 inactivates the ability to mediate pyroptosis (PubMed:28392147).

Phenotypes From GWAS Catalog for GSDMD Gene

Gene Ontology (GO) - Molecular Function for GSDMD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding ISS --
GO:0005515 protein binding IPI 25416956
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding ISS --
GO:0008289 lipid binding IEA --
GO:0070273 phosphatidylinositol-4-phosphate binding ISS --
genes like me logo Genes that share ontologies with GSDMD: view
genes like me logo Genes that share phenotypes with GSDMD: view

Animal Models for GSDMD Gene

MGI Knock Outs for GSDMD:
  • Gsdmd Gsdmd<tm1.1Tshir>

Inhibitory RNAs for research

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

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for GSDMD Gene

Localization for GSDMD Gene

Subcellular locations from UniProtKB/Swiss-Prot for GSDMD Gene

[Gasdermin-D]: Cytoplasm, cytosol. Inflammasome. Note=In response to a canonical inflammasome stimulus, such as nigericin, recruited to NLRP3 inflammasone with similar kinetics to that of uncleaved CASP1 precursor. {ECO:0000250 UniProtKB:Q9D8T2}.
[Gasdermin-D, N-terminal]: Cell membrane. Multi-pass membrane protein. Secreted. Note=Released in the extracellular milieu following pyroptosis. {ECO:0000250 UniProtKB:Q9D8T2}.
[Gasdermin-D, C-terminal]: Cytoplasm, cytosol.

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 GSDMD gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
extracellular 4
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
cytoskeleton 1
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GSDMD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space ISS --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol ISS --
genes like me logo Genes that share ontologies with GSDMD: view

Pathways & Interactions for GSDMD Gene

genes like me logo Genes that share pathways with GSDMD: view

Pathways by source for GSDMD Gene

1 Cell Signaling Technology pathway for GSDMD Gene

SIGNOR curated interactions for GSDMD Gene

Is activated by:

Gene Ontology (GO) - Biological Process for GSDMD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006954 inflammatory response IEA --
GO:0012501 programmed cell death IEA --
GO:0031668 cellular response to extracellular stimulus IEA --
GO:0032731 positive regulation of interleukin-1 beta production ISS --
genes like me logo Genes that share ontologies with GSDMD: view

Drugs & Compounds for GSDMD Gene

No Compound Related Data Available

Transcripts for GSDMD Gene

mRNA/cDNA for GSDMD Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

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

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11a ·
SP1: - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - -
SP4: - - -
SP5:
SP6: - - - - - -
SP7: - - - -
SP8: - - -
SP9: - - -
SP10: - -
SP11: - -
SP12:
SP13:

ExUns: 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16a · 16b
SP1: - -
SP2: - -
SP3:
SP4:
SP5: - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for GSDMD Gene

GeneLoc Exon Structure for
GSDMD

Expression for GSDMD Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (x4.6) and Spleen (x4.4).

Protein differential expression in normal tissues from HIPED for GSDMD Gene

This gene is overexpressed in Adrenal (18.7).

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



Protein tissue co-expression partners for GSDMD Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for GSDMD Gene:

Hs.118983

mRNA Expression by UniProt/SwissProt for GSDMD Gene:

P57764-GSDMD_HUMAN
Tissue specificity: Expressed in the suprabasal cells of esophagus, as well as in the isthmus/neck, pit, and gland of the stomach, suggesting preferential expression in differentiating cells.

Evidence on tissue expression from TISSUES for GSDMD Gene

  • Liver(4.5)
  • Nervous system(3.3)
  • Intestine(3.1)
  • Spleen(2.9)
  • Lymph node(2.7)
  • Blood(2.6)
  • Kidney(2.5)
  • Bone marrow(2.5)
  • Heart(2.3)
  • Lung(2.3)
  • Skin(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with GSDMD: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GSDMD Gene

Orthologs for GSDMD Gene

This gene was present in the common ancestor of chordates.

Orthologs for GSDMD Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GSDMD 29 30
  • 98.48 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GSDMD 29 30
  • 75.75 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GSDMD 29 30
  • 75.45 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gsdmd 29
  • 71.52 (n)
Mouse
(Mus musculus)
Mammalia Gsdmd 29 16 30
  • 69.95 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GSDMD 30
  • 39 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 35 (a)
OneToMany
Chicken
(Gallus gallus)
Aves GSDMA 30
  • 25 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 23 (a)
OneToMany
Species where no ortholog for GSDMD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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 GSDMD Gene

ENSEMBL:
Gene Tree for GSDMD (if available)
TreeFam:
Gene Tree for GSDMD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GSDMD: view image
Alliance of Genome Resources:
Additional Orthologs for GSDMD

Paralogs for GSDMD Gene

Paralogs for GSDMD Gene

(2) SIMAP similar genes for GSDMD Gene using alignment to 8 proteins:

  • GSDMD_HUMAN
  • E9PIB2_HUMAN
  • E9PNZ0_HUMAN
  • E9PQ48_HUMAN
  • E9PQR9_HUMAN
  • E9PRF1_HUMAN
  • G3V1A6_HUMAN
  • H0YDB0_HUMAN
genes like me logo Genes that share paralogs with GSDMD: view

Variants for GSDMD Gene

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

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs138605740 Likely Benign: not provided 143,559,354(+) C/A
NM_024736.7(GSDMD):c.19C>A (p.Arg7=)
SYNONYMOUS
rs138643473 Benign: not provided 143,562,806(+) A/G
NM_024736.7(GSDMD):c.1357A>G (p.Thr453Ala)
MISSENSE
rs138749323 Benign: not provided 143,561,751(+) G/A
NM_024736.7(GSDMD):c.746G>A (p.Arg249His)
MISSENSE
rs144173624 Benign: not provided 143,562,516(+) G/A
NM_024736.7(GSDMD):c.1207G>A (p.Glu403Lys)
MISSENSE
rs146780569 Likely Benign: not provided 143,562,691(+) G/A
NM_024736.7(GSDMD):c.1242G>A (p.Pro414=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GSDMD Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv1200n67 CNV loss 20364138
dgv12410n54 CNV loss 21841781
dgv12411n54 CNV loss 21841781
dgv12412n54 CNV loss 21841781
dgv12413n54 CNV gain+loss 21841781
dgv12414n54 CNV loss 21841781
dgv12415n54 CNV loss 21841781
dgv12416n54 CNV loss 21841781
dgv12417n54 CNV loss 21841781
dgv7336n100 CNV gain 25217958
esv1175692 CNV insertion 17803354
esv2659876 CNV deletion 23128226
esv2665566 CNV deletion 23128226
esv27296 CNV loss 19812545
esv2738018 CNV deletion 23290073
esv2738019 CNV deletion 23290073
esv29963 CNV loss 17803354
esv3544388 CNV deletion 23714750
esv3619112 CNV loss 21293372
esv4204 CNV loss 18987735
esv9611 CNV loss 19470904
nsv1112972 CNV deletion 24896259
nsv1161809 CNV deletion 26073780
nsv1161810 CNV deletion 26073780
nsv466000 CNV loss 19166990
nsv470247 CNV loss 18288195
nsv470248 CNV gain 18288195
nsv476374 CNV novel sequence insertion 20440878
nsv516210 CNV loss 19592680
nsv612774 CNV loss 21841781
nsv612777 CNV gain 21841781
nsv612783 CNV gain 21841781
nsv612793 CNV loss 21841781
nsv612801 CNV loss 21841781
nsv612805 CNV gain+loss 21841781
nsv612811 CNV loss 21841781
nsv824770 CNV gain 20364138
nsv950013 CNV deletion 24416366

Variation tolerance for GSDMD Gene

Residual Variation Intolerance Score: 88.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.28; 52.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GSDMD Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GSDMD
Leiden Open Variation Database (LOVD)
GSDMD

SNP Genotyping and Copy Number Assays for research

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

Disorders for GSDMD Gene

MalaCards: The human disease database

(1) MalaCards diseases for GSDMD Gene - From: COP

Disorder Aliases PubMed IDs
cinca syndrome
  • cinca
- elite association - COSMIC cancer census association via MalaCards
Search GSDMD in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GSDMD

genes like me logo Genes that share disorders with GSDMD: view

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

Publications for GSDMD Gene

  1. Identification and characterization of human DFNA5L, mouse Dfna5l, and rat Dfna5l genes in silico. (PMID: 15289881) Katoh M … Katoh M (International journal of oncology 2004) 2 3 4 22
  2. Succination inactivates gasdermin D and blocks pyroptosis. (PMID: 32820063) Humphries F … Fitzgerald KA (Science (New York, N.Y.) 2020) 3 4
  3. Structural Mechanism for GSDMD Targeting by Autoprocessed Caspases in Pyroptosis. (PMID: 32109412) Wang K … Ding J (Cell 2020) 3 4
  4. Mechanism of membrane pore formation by human gasdermin-D. (PMID: 29898893) Mulvihill E … Müller DJ (The EMBO journal 2018) 3 4
  5. Structures of the Gasdermin D C-Terminal Domains Reveal Mechanisms of Autoinhibition. (PMID: 29576317) Liu Z … Xiao TS (Structure (London, England : 1993) 2018) 3 4

Products for GSDMD Gene

Sources for GSDMD Gene