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GSDMB gasdermin B [ Homo sapiens (human) ]

Gene ID: 55876, updated on 27-Nov-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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See GSDMB in Genome Data Viewer
Location:
17q21.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (39904595..39918635, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (40768318..40782353, complement)
RS_2024_09 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

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Structural and functional insights into GSDMB isoforms complex roles in pathogenesis. Colomo S, et al. Cell Cycle, 2023 Oct. PMID 38037340,
  2. Chromosome 17q21 gene variants are associated with asthma and exacerbations but not atopy in early childhood. Bisgaard H, et al. Am J Respir Crit Care Med, 2009 Feb 1. PMID 19029000
  3. Gasdermin B expression predicts poor clinical outcome in HER2-positive breast cancer. Hergueta-Redondo M, et al. Oncotarget, 2016 Aug 30. PMID 27462779, Free PMC Article
  4. GSDMB induces an asthma phenotype characterized by increased airway responsiveness and remodeling without lung inflammation. Das S, et al. Proc Natl Acad Sci U S A, 2016 Nov 15. PMID 27799535, Free PMC Article
  5. Genetic variants of the gasdermin B gene associated with the development of aspirin-exacerbated respiratory diseases. Kim LH, et al. Allergy Asthma Proc, 2017 Jan 1. PMID 28052796

See all (87) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. GSDMB involvement in the pathogenesis of abdominal aortic aneurysm through regulation of macrophage non-canonical pyroptosis.
    Title: GSDMB involvement in the pathogenesis of abdominal aortic aneurysm through regulation of macrophage non-canonical pyroptosis.
  2. Structural and functional insights into GSDMB isoforms complex roles in pathogenesis.
    Title: Structural and functional insights into GSDMB isoforms complex roles in pathogenesis.
  3. 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.
  4. 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.
  5. 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.
  6. The study of GSDMB in pathogenesis of psoriasis vulgaris.
    Title: The study of GSDMB in pathogenesis of psoriasis vulgaris.
  7. GSDM gene polymorphisms regulate the IgE level in asthmatic patients.
    Title: GSDM gene polymorphisms regulate the IgE level in asthmatic patients.
  8. 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.
  9. Pathogenic ubiquitination of GSDMB inhibits NK cell bactericidal functions.
    Title: Pathogenic ubiquitination of GSDMB inhibits NK cell bactericidal functions.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (53)

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)

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 cardiolipin binding IDA
Inferred from Direct Assay
more info
 PubMed 
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
  
enables phospholipid binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables wide pore channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cytotoxic T cell pyroptotic cell death IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in defense response to Gram-negative bacterium IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in defense response to bacterium IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in granzyme-mediated programmed cell death signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in killing by host of symbiont cells IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in killing of cells of another organism IEA
Inferred from Electronic Annotation
more info
  
involved_in programmed cell death IEA
Inferred from Electronic Annotation
more info
  
involved_in pyroptotic inflammatory response IBA
Inferred from Biological aspect of Ancestor
more info
  
NOT involved_in pyroptotic inflammatory response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in pyroptotic inflammatory response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
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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NEW Try the new Transcript table

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_2024_08

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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