GSDMD gasdermin D [Homo sapiens (human)] - Gene

Summary

Official Symbol: GSDMDprovided by HGNC
Official Full Name: gasdermin Dprovided by HGNC
Primary source: HGNC:HGNC:25697
See related: Ensembl:ENSG00000104518 MIM:617042; AllianceGenome:HGNC:25697
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: DF5L; DFNA5L; FKSG10; GSDMDC1
Summary: Gasdermin D is a member of the gasdermin family. Members of this family appear to play a role in regulation of epithelial proliferation. Gasdermin D has been suggested to act as a tumor suppressor. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]
Expression: Ubiquitous expression in spleen (RPKM 35.6), duodenum (RPKM 18.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (143553387..143563062)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (144702722..144712453)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (144635557..144645232)

Chromosome 8 - NC_000008.11 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?

TNF-a induces mitochondrial dysfunction to drive NLRP3/Caspase-1/GSDMD-mediated pyroptosis in MCF-7 cells.
Title: TNF-ɑ induces mitochondrial dysfunction to drive NLRP3/Caspase-1/GSDMD-mediated pyroptosis in MCF-7 cells.
Cardiolipin oxidized by ROS from complex II acts as a target of gasdermin D to drive mitochondrial pore and heart dysfunction in endotoxemia.
Title: Cardiolipin oxidized by ROS from complex II acts as a target of gasdermin D to drive mitochondrial pore and heart dysfunction in endotoxemia.
Gut microbiota-mediated activation of GSDMD ignites colorectal tumorigenesis.
Title: Gut microbiota-mediated activation of GSDMD ignites colorectal tumorigenesis.
A palmitoylation-depalmitoylation relay spatiotemporally controls GSDMD activation in pyroptosis.
Title: A palmitoylation-depalmitoylation relay spatiotemporally controls GSDMD activation in pyroptosis.
Palmitoylation at a conserved cysteine residue facilitates gasdermin D-mediated pyroptosis and cytokine release.
Title: Palmitoylation at a conserved cysteine residue facilitates gasdermin D-mediated pyroptosis and cytokine release.
Targeting BRD4 mitigates hepatocellular lipotoxicity by suppressing the NLRP3 inflammasome activation and GSDMD-mediated hepatocyte pyroptosis.
Title: Targeting BRD4 mitigates hepatocellular lipotoxicity by suppressing the NLRP3 inflammasome activation and GSDMD-mediated hepatocyte pyroptosis.
P2X7R Modulates NEK7-NLRP3 Interaction to Exacerbate Experimental Autoimmune Prostatitis via GSDMD-mediated Prostate Epithelial Cell Pyroptosis.
Title: P2X7R Modulates NEK7-NLRP3 Interaction to Exacerbate Experimental Autoimmune Prostatitis via GSDMD-mediated Prostate Epithelial Cell Pyroptosis.
Targeting STING elicits GSDMD-dependent pyroptosis and boosts anti-tumor immunity in renal cell carcinoma.
Title: Targeting STING elicits GSDMD-dependent pyroptosis and boosts anti-tumor immunity in renal cell carcinoma.
ROS-dependent S-palmitoylation activates cleaved and intact gasdermin D.
Title: ROS-dependent S-palmitoylation activates cleaved and intact gasdermin D.
Gasdermin D deficiency aborts myeloid calcium influx to drive granulopoiesis in lupus nephritis.
Title: Gasdermin D deficiency aborts myeloid calcium influx to drive granulopoiesis in lupus nephritis.

Submit: New GeneRIF Correction See all GeneRIFs (103)

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

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2024-03-27) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2024-03-27) ClinGen Genome Curation Page

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

WI-8705 (e-PCR)
- UniSTS:53282

D8S2072 (e-PCR)
- UniSTS:28381

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cardiolipin binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidic acid binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol-4,5-bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4-phosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-4-phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylserine binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylserine binding	ISS Inferred from Sequence or Structural Similarity 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 Gram-negative bacterium	ISS Inferred from Sequence or Structural Similarity more info
involved_in defense response to Gram-positive bacterium	ISS Inferred from Sequence or Structural Similarity more info
involved_in defense response to bacterium	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in pore complex assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-1 beta production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interleukin-1 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-18 production	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homooligomerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in pyroptotic cell death	IDA Inferred from Direct Assay more info	PubMed
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 pyroptotic inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of NLRP3 inflammasome complex	IBA Inferred from Biological aspect of Ancestor more info
part_of NLRP3 inflammasome complex	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
is_active_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in specific granule lumen	TAS Traceable Author Statement more info
located_in tertiary granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: gasdermin-D

Names: gasdermin domain containing 1; gasdermin domain-containing protein 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.

mRNA and Protein(s)

NM_001166237.1 → NP_001159709.1 gasdermin-D

See identical proteins and their annotated locations for NP_001159709.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AK291817, BC008904, BC069000

Consensus CDS

CCDS34956.1

UniProtKB/Swiss-Prot

A8K702, D3DWJ9, P57764, Q96Q98

UniProtKB/TrEMBL

G3V1A6

Related

ENSP00000433209.1, ENST00000526406.5

Conserved Domains (1) summary

pfam04598
Location:4 → 456

Gasdermin; Gasdermin family
NM_024736.7 → NP_079012.3 gasdermin-D

See identical proteins and their annotated locations for NP_079012.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

BC008904, BC069000

Consensus CDS

CCDS34956.1

UniProtKB/Swiss-Prot

A8K702, D3DWJ9, P57764, Q96Q98

UniProtKB/TrEMBL

G3V1A6

Related

ENSP00000262580.4, ENST00000262580.9

Conserved Domains (1) summary

pfam04598
Location:4 → 456

Gasdermin; Gasdermin family