GSDMB gasdermin B [Homo sapiens (human)] - Gene

Summary

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

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Structural and functional insights into GSDMB isoforms complex roles in pathogenesis.
Title: Structural and functional insights into GSDMB isoforms complex roles in pathogenesis.
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.
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.
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.
The study of GSDMB in pathogenesis of psoriasis vulgaris.
Title: The study of GSDMB in pathogenesis of psoriasis vulgaris.
GSDM gene polymorphisms regulate the IgE level in asthmatic patients.
Title: GSDM gene polymorphisms regulate the IgE level in asthmatic patients.
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.
Pathogenic ubiquitination of GSDMB inhibits NK cell bactericidal functions.
Title: Pathogenic ubiquitination of GSDMB inhibits NK cell bactericidal functions.
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 EBI GWAS CatalogPubMed
A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12. EBI GWAS Catalog EBI GWAS CatalogPubMed
A large-scale, consortium-based genomewide association study of asthma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association identifies multiple ulcerative colitis susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple loci are associated with white blood cell phenotypes. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

SHGC-154938 (e-PCR)
- UniSTS:183080

D8S2279 (e-PCR)
- UniSTS:473907

WI-20984 (e-PCR)
- UniSTS:18083

RH12559 (e-PCR)
- UniSTS:73163

STS-N38810 (e-PCR)
- UniSTS:61419

SHGC-146654 (e-PCR)
- UniSTS:175354

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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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

NG_015804.1 RefSeqGene

Range

5016..19056

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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
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
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
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