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    GSDMB gasdermin B [ Homo sapiens (human) ]

    Gene ID: 55876, updated on 5-Mar-2024

    Summary

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    Official Symbol
    GSDMBprovided by HGNC
    Official Full Name
    gasdermin Bprovided by HGNC
    Primary source
    HGNC:HGNC:23690
    See related
    Ensembl:ENSG00000073605 MIM:611221; AllianceGenome:HGNC:23690
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GSDML; PP4052; GSDMB-1; PRO2521
    Summary
    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]
    Expression
    Broad expression in small intestine (RPKM 18.8), duodenum (RPKM 16.9) and 17 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    17q21.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (39904595..39918635, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (40768318..40782353, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (38060848..38074888, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene IKAROS family zinc finger 3 Neighboring gene ribosomal protein L39 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12111 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12116 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:38023509-38023724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12117 Neighboring gene zona pellucida binding protein 2 Neighboring gene GSDMB 5' regulatory region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38079584-38080370 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:38080371-38081156 Neighboring gene uncharacterized LOC124903999 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38083108-38083718 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38083719-38084330 Neighboring gene ORMDL sphingolipid biosynthesis regulator 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12119 Neighboring gene leucine rich repeat containing 3C

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. The study of GSDMB in pathogenesis of psoriasis vulgaris. Ji X, et al. PLoS One, 2023. PMID 36607980, Free PMC Article
    2. GSDM gene polymorphisms regulate the IgE level in asthmatic patients. Imraish A, et al. PLoS One, 2022. PMID 36201519, Free PMC Article
    3. GSDMB is increased in IBD and regulates epithelial restitution/repair independent of pyroptosis. Rana N, et al. Cell, 2022 Jan 20. PMID 35021065, Free PMC Article
    4. Upregulated GSDMB in Clear Cell Renal Cell Carcinoma Is Associated with Immune Infiltrates and Poor Prognosis. Cui Y, et al. J Immunol Res, 2021. PMID 34957313, Free PMC Article
    5. The GSDMB rs7216389 SNP is associated with chronic rhinosinusitis in a multi-institutional cohort. Zack DE, et al. Int Forum Allergy Rhinol, 2021 Dec. PMID 34076350, Free PMC Article

    See all (81) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structural and functional insights into GSDMB isoforms complex roles in pathogenesis.
      Title: Structural and functional insights into GSDMB isoforms complex roles in pathogenesis.
    2. Association between polymorphisms of the GSDMB gene and allergic rhinitis risk in the Chinese population: a case-control study.
      Title: Association between polymorphisms of the GSDMB gene and allergic rhinitis risk in the Chinese population: a case-control study.
    3. Structural basis for GSDMB pore formation and its targeting by IpaH7.8.
      Title: Structural basis for GSDMB pore formation and its targeting by IpaH7.8.
    4. Insights into the GSDMB-mediated cellular lysis and its targeting by IpaH7.8.
      Title: Insights into the GSDMB-mediated cellular lysis and its targeting by IpaH7.8.
    5. The study of GSDMB in pathogenesis of psoriasis vulgaris.
      Title: The study of GSDMB in pathogenesis of psoriasis vulgaris.
    6. GSDM gene polymorphisms regulate the IgE level in asthmatic patients.
      Title: GSDM gene polymorphisms regulate the IgE level in asthmatic patients.
    7. Genome-wide study of early and severe childhood asthma identifies interaction between CDHR3 and GSDMB.
      Title: Genome-wide study of early and severe childhood asthma identifies interaction between CDHR3 and GSDMB.
    8. Pathogenic ubiquitination of GSDMB inhibits NK cell bactericidal functions.
      Title: Pathogenic ubiquitination of GSDMB inhibits NK cell bactericidal functions.
    9. Upregulated GSDMB in Clear Cell Renal Cell Carcinoma Is Associated with Immune Infiltrates and Poor Prognosis.
      Title: Upregulated GSDMB in Clear Cell Renal Cell Carcinoma Is Associated with Immune Infiltrates and Poor Prognosis.
    10. USP24-GSDMB complex promotes bladder cancer proliferation via activation of the STAT3 pathway.
      Title: USP24-GSDMB complex promotes bladder cancer proliferation via activation of the STAT3 pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (52)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
    EBI GWAS Catalog
    A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations.
    EBI GWAS Catalog
    A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12.
    EBI GWAS Catalog
    A large-scale, consortium-based genomewide association study of asthma.
    EBI GWAS Catalog
    Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.
    EBI GWAS Catalog
    Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma.
    EBI GWAS Catalog
    Genome-wide association identifies multiple ulcerative colitis susceptibility loci.
    EBI GWAS Catalog
    Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
    EBI GWAS Catalog
    Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
    EBI GWAS Catalog
    Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.
    EBI GWAS Catalog
    Multiple loci are associated with white blood cell phenotypes.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol-4,5-bisphosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-4-phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylserine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in defense response to bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in killing of cells of another organism IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in pyroptosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    gasdermin-B
    Names
    gasdermin-like protein
    gasderminB-1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_015804.1 RefSeqGene

      Range
      5016..19056
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001042471.2 → NP_001035936.1  gasdermin-B isoform 1

      See identical proteins and their annotated locations for NP_001035936.1

      Status: REVIEWED

      Source sequence(s)
      AK000409, CA488357, CB136981
      Consensus CDS
      CCDS42313.1
      UniProtKB/TrEMBL
      B2CM70
      Related
      ENSP00000312584.7, ENST00000309481.11
      Conserved Domains (2) summary
      pfam04598
      Location:5 → 217
      Gasdermin; Gasdermin family
      pfam17708
      Location:235 → 361
      Gasdermin_C; Gasdermin PUB domain

    2. NM_001165958.2 → NP_001159430.1  gasdermin-B isoform 3

      See identical proteins and their annotated locations for NP_001159430.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (3).
      Source sequence(s)
      AK000409, BX538068, CB136981
      Consensus CDS
      CCDS54120.1
      UniProtKB/Swiss-Prot
      B4DKK7, Q7Z377, Q8TAX9, Q8WY76, Q9NX71, Q9P163
      UniProtKB/TrEMBL
      A0A679AYI0
      Related
      ENSP00000415049.1, ENST00000418519.6
      Conserved Domains (2) summary
      pfam04598
      Location:5 → 233
      Gasdermin; Gasdermin family
      pfam17708
      Location:248 → 374
      Gasdermin_C; Gasdermin PUB domain

    3. NM_001165959.2 → NP_001159431.1  gasdermin-B isoform 4

      See identical proteins and their annotated locations for NP_001159431.1

      Status: REVIEWED

      Source sequence(s)
      AF119884, AK296607, CB136981
      Consensus CDS
      CCDS54119.1
      UniProtKB/TrEMBL
      A0A679AYI0
      Related
      ENSP00000430157.1, ENST00000520542.5
      Conserved Domains (2) summary
      pfam04598
      Location:5 → 233
      Gasdermin; Gasdermin family
      pfam17708
      Location:239 → 365
      Gasdermin_C; Gasdermin PUB domain

    4. NM_001369402.2 → NP_001356331.1  gasdermin-B isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC090844
      Consensus CDS
      CCDS42313.1
      UniProtKB/TrEMBL
      B2CM70
      Related
      ENSP00000377733.2, ENST00000394179.5
      Conserved Domains (2) summary
      pfam04598
      Location:5 → 217
      Gasdermin; Gasdermin family
      pfam17708
      Location:235 → 361
      Gasdermin_C; Gasdermin PUB domain

    5. NM_001388420.1 → NP_001375349.1  gasdermin-B isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC090844
      Consensus CDS
      CCDS54120.1
      UniProtKB/Swiss-Prot
      B4DKK7, Q7Z377, Q8TAX9, Q8WY76, Q9NX71, Q9P163
      UniProtKB/TrEMBL
      A0A679AYI0
      Related
      ENSP00000353465.3, ENST00000360317.7
      Conserved Domains (2) summary
      pfam04598
      Location:5 → 233
      Gasdermin; Gasdermin family
      pfam17708
      Location:248 → 374
      Gasdermin_C; Gasdermin PUB domain

    6. NM_001388421.1 → NP_001375350.1  gasdermin-B isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC090844
      Consensus CDS
      CCDS54119.1
      UniProtKB/TrEMBL
      A0A679AYI0
      Conserved Domains (2) summary
      pfam04598
      Location:5 → 233
      Gasdermin; Gasdermin family
      pfam17708
      Location:239 → 365
      Gasdermin_C; Gasdermin PUB domain

    7. NM_001388422.1 → NP_001375351.1  gasdermin-B isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC090844
      Consensus CDS
      CCDS42313.1
      UniProtKB/TrEMBL
      B2CM70
      Conserved Domains (2) summary
      pfam04598
      Location:5 → 217
      Gasdermin; Gasdermin family
      pfam17708
      Location:235 → 361
      Gasdermin_C; Gasdermin PUB domain

    8. NM_001388423.1 → NP_001375352.1  gasdermin-B isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC090844
      Consensus CDS
      CCDS11354.1
      UniProtKB/TrEMBL
      B2CM70
      Conserved Domains (2) summary
      pfam04598
      Location:5 → 217
      Gasdermin; Gasdermin family
      pfam17708
      Location:226 → 352
      Gasdermin_C; Gasdermin PUB domain

    9. NM_001388424.1 → NP_001375353.1  gasdermin-B isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC090844
      Conserved Domains (2) summary
      pfam04598
      Location:5 → 171
      Gasdermin; Gasdermin family
      pfam17708
      Location:199 → 270
      Gasdermin_C; Gasdermin PUB domain

    10. NM_018530.3 → NP_061000.2  gasdermin-B isoform 2

      See identical proteins and their annotated locations for NP_061000.2

      Status: REVIEWED

      Source sequence(s)
      AC090844
      Consensus CDS
      CCDS11354.1
      UniProtKB/TrEMBL
      B2CM70
      Related
      ENSP00000377729.2, ENST00000394175.6
      Conserved Domains (2) summary
      pfam04598
      Location:5 → 217
      Gasdermin; Gasdermin family
      pfam17708
      Location:226 → 352
      Gasdermin_C; Gasdermin PUB domain

    RNA

    1. NR_170970.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090844

    2. NR_170971.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090844

    3. NR_170972.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090844

    4. NR_170973.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090844

    5. NR_170974.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090844

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      39904595..39918635 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      40768318..40782353 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TAX9.3 GenPept UniProtKB/Swiss-Prot:Q8TAX9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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