GSDMA gasdermin A [Homo sapiens (human)] - Gene

Summary

Official Symbol: GSDMAprovided by HGNC
Official Full Name: gasdermin Aprovided by HGNC
Primary source: HGNC:HGNC:13311
See related: Ensembl:ENSG00000167914 MIM:611218; AllianceGenome:HGNC:13311
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GSDM; FKSG9; GSDM1
Summary: Enables wide pore channel activity. Involved in defense response to bacterium and pyroptotic inflammatory response. Located in perinuclear region of cytoplasm. Is active in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in skin (RPKM 16.4) and esophagus (RPKM 1.0) See more
Orthologs: all
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Genomic context

Location:: 17q21.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (39963004..39977768)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (40826865..40841632)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (38119257..38134021)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Starvation-induced phosphorylation activates gasdermin A to initiate pyroptosis.
Title: Starvation-induced phosphorylation activates gasdermin A to initiate pyroptosis.
Overexpressed FAM111B degrades GSDMA to promote esophageal cancer tumorigenesis and cisplatin resistance.
Title: Overexpressed FAM111B degrades GSDMA to promote esophageal cancer tumorigenesis and cisplatin resistance.
Role of GSDM family members in airway epithelial cells of lung diseases: a systematic and comprehensive transcriptomic analysis.
Title: Role of GSDM family members in airway epithelial cells of lung diseases: a systematic and comprehensive transcriptomic analysis.
Gasdermin A Is Required for Epidermal Cornification during Skin Barrier Regeneration and in an Atopic Dermatitis-Like Model.
Title: Gasdermin A Is Required for Epidermal Cornification during Skin Barrier Regeneration and in an Atopic Dermatitis-Like Model.
Integrated analysis of expression, prognostic value and immune infiltration of GSDMs in hepatocellular carcinoma.
Title: Integrated analysis of expression, prognostic value and immune infiltration of GSDMs in hepatocellular carcinoma.
Association between Gasdermin A, Gasdermin B Polymorphisms and Allergic Rhinitis Amongst Jordanians.
Title: Association between Gasdermin A, Gasdermin B Polymorphisms and Allergic Rhinitis Amongst Jordanians.
Asthma-associated polymorphisms in 17q12-21 locus modulate methylation and gene expression of GSDMA in naive CD4(+) T cells.
Title: Asthma-associated polymorphisms in 17q12-21 locus modulate methylation and gene expression of GSDMA in naïve CD4(+) T cells.
GSDMA is upregulated in systemic sclerosis monocyte-derived macrophages but not in the skin; and is an expression quantitative trait locus in systemic sclerosis macrophages and lipopolysaccharide/interferon gamma (IFNgamma)-stimulated monocytes. A systemic sclerosis macrophage transcriptome signature is characterized by upregulation of glycolysis, hypoxia and mTOR signaling and a downregulation of IFNgamma response pat...
Title: Changes in macrophage transcriptome associate with systemic sclerosis and mediate GSDMA contribution to disease risk.
modest changes (8-13%) in promoter methylation levels of ZPBP2 and GSDMA may cause substantial changes in RNA levels and allelic expression of ZPBP2 and ORMDL3 is mediated by DNA methylation
Title: Role of DNA methylation in expression control of the IKZF3-GSDMA region in human epithelial cells.
GSDMA was identified as a susceptibility gene for systemic sclerosis.
Title: Transethnic meta-analysis identifies GSDMA and PRDM1 as susceptibility genes to systemic sclerosis.

Submit: New GeneRIF Correction See all GeneRIFs (19)

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 study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
A large-scale, consortium-based genomewide association study of asthma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 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

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

NoName (e-PCR)
- UniSTS:484192

D11S3114 (e-PCR)
- UniSTS:152207

G42236 (e-PCR)
- UniSTS:93339

D17S651 (e-PCR)
- UniSTS:70827

D17S1814 (e-PCR), detects polymorphism
- UniSTS:66499

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
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables wide pore channel activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in defense response to bacterium	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to bacterium	IDA Inferred from Direct Assay more info	PubMed
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
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 cytosol	IEA Inferred from Electronic Annotation more info
is_active_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	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-A

Names: gasdermin-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.