This gene encodes a member of the gasdermin-domain containing protein family. Other gasdermin-family genes are implicated in the regulation of apoptosis in epithelial cells, and are linked to cancer. Alternative splicing and the use of alternative promoters results in multiple transcript variants. Additional variants have been described, but they are candidates for nonsense-med... See more...

Aliases for GSDMB Gene

Aliases for GSDMB Gene

  • Gasdermin B 2 3 5
  • Gasdermin-Like Protein 3 4
  • Gasdermin-B 3 4
  • PRO2521 2 3
  • GSDML 3 4
  • Gasdermin-Like 2
  • GasderminB-1 3
  • GSDMB-1 3
  • PP4052 3
  • GSDMB 5

External Ids for GSDMB Gene

Previous HGNC Symbols for GSDMB Gene

  • GSDML

Previous GeneCards Identifiers for GSDMB Gene

  • GC17M035315
  • GC17M038060
  • GC17M033854

Summaries for GSDMB Gene

Entrez Gene Summary for GSDMB Gene

  • This gene encodes a member of the gasdermin-domain containing protein family. Other gasdermin-family genes are implicated in the regulation of apoptosis in epithelial cells, and are linked to cancer. Alternative splicing and the use of alternative promoters results in multiple transcript variants. Additional variants have been described, but they are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to be protein-coding. [provided by RefSeq, Nov 2016]

GeneCards Summary for GSDMB Gene

GSDMB (Gasdermin B) is a Protein Coding gene. Diseases associated with GSDMB include Oral Squamous Cell Carcinoma and Primary Biliary Cholangitis. An important paralog of this gene is GSDMA.

UniProtKB/Swiss-Prot Summary for GSDMB Gene

  • [Gasdermin-B]: Precursor of a pore-forming protein that acts as a downstream mediator of granzyme-mediated cell death (PubMed:32299851). This form constitutes the precursor of the pore-forming protein: upon cleavage, the released N-terminal moiety (Gasdermin-B, N-terminal) binds to membranes and forms pores, triggering pyroptosis (PubMed:32299851).
  • [Gasdermin-B, N-terminal]: Pore-forming protein produced by cleavage by granzyme A (GZMA), which causes membrane permeabilization and pyroptosis in target cells of cytotoxic T and natural killer (NK) cells (PubMed:27281216, PubMed:32299851). Key downstream mediator of granzyme-mediated cell death: (1) granzyme A (GZMA), delivered to target cells from cytotoxic T- and NK-cells, (2) specifically cleaves Gasdermin-B to generate this form (PubMed:32299851). After cleavage, moves to the plasma membrane, homooligomerizes within the membrane and forms pores of 10-15 nanometers (nm) of inner diameter, triggering pyroptosis (PubMed:32299851). Binds to membrane inner leaflet lipids, such as phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, bisphosphorylated phosphatidylinositols, such as phosphatidylinositol (4,5)-bisphosphate, and more weakly to phosphatidic acid (PubMed:28154144). Also binds sufatide, a component of the apical membrane of epithelial cells (PubMed:28154144).

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

Genomics for GSDMB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GSDMB 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 GSDMB on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the GSDMB gene promoter:
  • AP-4
  • C/EBPbeta
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha2

Genomic Locations for GSDMB Gene

Latest Assembly
chr17:39,904,595-39,919,854
(GRCh38/hg38)
Size:
15,260 bases
Orientation:
Minus strand

Previous Assembly
chr17:38,060,848-38,074,888
(GRCh37/hg19 by Entrez Gene)
Size:
14,041 bases
Orientation:
Minus strand

chr17:38,060,848-38,076,107
(GRCh37/hg19 by Ensembl)
Size:
15,260 bases
Orientation:
Minus strand

Genomic View for GSDMB Gene

Genes around GSDMB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GSDMB Gene

Proteins for GSDMB Gene

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

    Protein Symbol:
    Q8TAX9-GSDMB_HUMAN
    Recommended name:
    Gasdermin-B
    Protein Accession:
    Q8TAX9
    Secondary Accessions:
    • B4DKK7
    • Q7Z377
    • Q8WY76
    • Q9NX71
    • Q9P163

    Protein attributes for GSDMB Gene

    Size:
    411 amino acids
    Molecular mass:
    46786 Da
    Quaternary structure:
    • [Gasdermin-B, N-terminal]: Homooligomer; homooligomeric ring-shaped pore complex containing 27-28 subunits when inserted in the membrane.
    Miscellaneous:
    • Long terminal repeat (LTR) of endogenous retrovirus HERV-H with reverse orientation may serve as alternative promoters of GSDML gene.
    • GSDML may be used as predictive markers of cervical lymph node metastasis and may help, with a panel of other genes, to discriminate between primary tumors of oral squamous cell carcinoma that metastasize to cervical lymph node and those that do not metastasize.

    Three dimensional structures from OCA and Proteopedia for GSDMB Gene

    Alternative splice isoforms for GSDMB Gene

neXtProt entry for GSDMB Gene

Post-translational modifications for GSDMB Gene

  • Cleavage by granzyme A (GZMA) relieves autoinhibition by releasing the N-terminal moiety (Gasdermin-B, N-terminal) that initiates pyroptosis (PubMed:32299851). Not cleaved by other granzymes (PubMed:32299851). Major cleavage site takes places after Lys-239; a minor cleavage site takes place after Lys-233 (PubMed:32299851).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Abcam antibodies for GSDMB
  • Boster Bio Antibodies for GSDMB
  • Santa Cruz Biotechnology (SCBT) Antibodies for GSDMB

No data available for DME Specific Peptides for GSDMB Gene

Domains & Families for GSDMB Gene

Gene Families for GSDMB Gene

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

Protein Domains for GSDMB Gene

Suggested Antigen Peptide Sequences for GSDMB Gene

GenScript: Design optimal peptide antigens:
  • Gasdermin-like isoform GSDML1 (B2CM70_HUMAN)
  • cDNA FLJ59250, weakly similar to Gasdermin (B4DKK7_HUMAN)
  • Gasdermin-like protein (GSDMB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TAX9

UniProtKB/Swiss-Prot:

GSDMB_HUMAN :
  • Intramolecular interactions between N- and C-terminal domains are 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 are 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 GSDMB: view

Function for GSDMB Gene

Molecular function for GSDMB Gene

UniProtKB/Swiss-Prot Function:
[Gasdermin-B]: Precursor of a pore-forming protein that acts as a downstream mediator of granzyme-mediated cell death (PubMed:32299851). This form constitutes the precursor of the pore-forming protein: upon cleavage, the released N-terminal moiety (Gasdermin-B, N-terminal) binds to membranes and forms pores, triggering pyroptosis (PubMed:32299851).
UniProtKB/Swiss-Prot Function:
[Gasdermin-B, N-terminal]: Pore-forming protein produced by cleavage by granzyme A (GZMA), which causes membrane permeabilization and pyroptosis in target cells of cytotoxic T and natural killer (NK) cells (PubMed:27281216, PubMed:32299851). Key downstream mediator of granzyme-mediated cell death: (1) granzyme A (GZMA), delivered to target cells from cytotoxic T- and NK-cells, (2) specifically cleaves Gasdermin-B to generate this form (PubMed:32299851). After cleavage, moves to the plasma membrane, homooligomerizes within the membrane and forms pores of 10-15 nanometers (nm) of inner diameter, triggering pyroptosis (PubMed:32299851). Binds to membrane inner leaflet lipids, such as phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, bisphosphorylated phosphatidylinositols, such as phosphatidylinositol (4,5)-bisphosphate, and more weakly to phosphatidic acid (PubMed:28154144). Also binds sufatide, a component of the apical membrane of epithelial cells (PubMed:28154144).
UniProtKB/Swiss-Prot Induction:
Expression is induced by interferon-gamma (IFNG).
UniProtKB/Swiss-Prot EnzymeRegulation:
[Gasdermin-B]: The full-length protein before cleavage is inactive: intramolecular interactions between N- and C-terminal domains mediate autoinhibition in the absence of activation signal (By similarity). The intrinsic pyroptosis-inducing activity is carried by the released N-terminal moiety (Gasdermin-B, N-terminal) following cleavage by granzyme A (GZMA) (PubMed:32299851).

Phenotypes From GWAS Catalog for GSDMB Gene

Gene Ontology (GO) - Molecular Function for GSDMB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding IBA 21873635
GO:0003674 molecular_function ND --
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 GSDMB: view
genes like me logo Genes that share phenotypes with GSDMB: view

miRNA for GSDMB Gene

miRTarBase miRNAs that target GSDMB

Inhibitory RNAs for research

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

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

Localization for GSDMB Gene

Subcellular locations from UniProtKB/Swiss-Prot for GSDMB Gene

[Gasdermin-B]: Cytoplasm. Note=Vesicular localization in the apical region of gastric chief cells and colonic surface mucous cells, and the basal region of neuroendocrine cells. {ECO:0000269 PubMed:18038310}.
[Gasdermin-B, N-terminal]: Cell membrane. Multi-pass membrane protein.

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GSDMB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GSDMB: view

Pathways & Interactions for GSDMB Gene

PathCards logo

SuperPathways for GSDMB Gene

No Data Available

Interacting Proteins for GSDMB Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000415049 Q8TAX9-GSDMB_HUMAN for GSDMB Gene via STRING IID

Gene Ontology (GO) - Biological Process for GSDMB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0012501 programmed cell death IEA --
GO:0019835 cytolysis IEA --
GO:0042742 defense response to bacterium IBA 21873635
GO:0070269 pyroptosis IBA 21873635
genes like me logo Genes that share ontologies with GSDMB: view

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

Drugs & Compounds for GSDMB Gene

No Compound Related Data Available

Transcripts for GSDMB Gene

mRNA/cDNA for GSDMB Gene

10 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
15 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 GSDMB

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

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

Relevant External Links for GSDMB Gene

GeneLoc Exon Structure for
GSDMB

Expression for GSDMB Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x4.8), Colon - Transverse (x4.2), and Small Intestine - Terminal Ileum (x4.1).

Protein differential expression in normal tissues from HIPED for GSDMB Gene

This gene is overexpressed in Stomach (26.8), Islet of Langerhans (15.1), and Rectum (15.0).

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



Protein tissue co-expression partners for GSDMB Gene

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

SOURCE GeneReport for Unigene cluster for GSDMB Gene:

Hs.306777

mRNA Expression by UniProt/SwissProt for GSDMB Gene:

Q8TAX9-GSDMB_HUMAN
Tissue specificity: In the gastrointestinal tract, expressed in proliferating cells, including in the basal cell layer of esophagus and in isthmus/neck of stomach.

Evidence on tissue expression from TISSUES for GSDMB Gene

  • Intestine(4.5)
  • Lung(4.4)
  • Stomach(2.3)
  • Blood(2.2)
  • Skin(2.2)
  • Liver(2)
genes like me logo Genes that share expression patterns with GSDMB: view

Primer products for research

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

Orthologs for GSDMB Gene

This gene was present in the common ancestor of mammals.

Orthologs for GSDMB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GSDMB 29 30
  • 99.44 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GSDMB 29 30
  • 74.88 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GSDMB 29 30
  • 73.12 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GSDMB 30
  • 30 (a)
OneToOne
Species where no ortholog for GSDMB 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)
  • Chicken (Gallus gallus)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • 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 GSDMB Gene

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

Paralogs for GSDMB Gene

Paralogs for GSDMB Gene

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

  • GSDMB_HUMAN
  • J3QLF0_HUMAN
genes like me logo Genes that share paralogs with GSDMB: view

Variants for GSDMB Gene

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

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs147222506 Benign: not provided 39,917,245(-) G/A
NM_001042471.1(GSDMB):c.72C>T (p.Ala24=)
SYNONYMOUS
rs1598273186 Likely Benign: not provided 39,905,958(-) G/A
NM_001042471.1(GSDMB):c.877C>T (p.Leu293=)
SYNONYMOUS
VAR_042634 A breast cancer sample p.Asp245Gly
rs12450091 -- p.Glu122Gly
rs16965388 -- p.Arg325Cys

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

Variant ID Type Subtype PubMed ID
esv3573064 CNV gain 25503493
esv3640549 CNV loss 21293372
nsv1146669 OTHER inversion 26484159

Variation tolerance for GSDMB Gene

Residual Variation Intolerance Score: 75.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.87; 93.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GSDMB Gene

Human Gene Mutation Database (HGMD)
GSDMB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GSDMB
Leiden Open Variation Database (LOVD)
GSDMB

SNP Genotyping and Copy Number Assays for research

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

Disorders for GSDMB Gene

MalaCards: The human disease database

(3) MalaCards diseases for GSDMB Gene - From: COP and GCD

Disorder Aliases PubMed IDs
oral squamous cell carcinoma
  • mouth squamous cell carcinoma
primary biliary cholangitis
  • biliary liver cirrhosis
bronchial disease
  • bronchospasm
- elite association - COSMIC cancer census association via MalaCards
Search GSDMB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GSDMB

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GSDMB: view

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

Publications for GSDMB Gene

  1. Genetic variation in ORM1-like 3 (ORMDL3) and gasdermin-like (GSDML) and childhood asthma. (PMID: 19133921) Wu H … London SJ (Allergy 2009) 3 22 40
  2. Differential expression and localisation of gasdermin-like (GSDML), a novel member of the cancer-associated GSDMDC protein family, in neoplastic and non-neoplastic gastric, hepatic, and colon tissues. (PMID: 18038310) Carl-McGrath S … Röcken C (Pathology 2008) 3 4 22
  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 4
  4. Transcriptional control of the HERV-H LTR element of the GSDML gene in human tissues and cancer cells. (PMID: 16625320) Sin HS … Kim HS (Archives of virology 2006) 3 4 22
  5. 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

Products for GSDMB Gene

Sources for GSDMB Gene