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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 8q24.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (143553387..143563062)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (144702722..144712453)
105.20220307	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

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

System analysis based on the pyroptosis-related genes identifes GSDMD as a novel therapy target for skin cutaneous melanoma.
Title: System analysis based on the pyroptosis-related genes identifes GSDMD as a novel therapy target for skin cutaneous melanoma.
Expression and significance of effector proteins NLRP3 and gasdermin D N-terminal protein in the pyrolysis pathway in breast cancer.
Title: Expression and significance of effector proteins NLRP3 and gasdermin D N-terminal protein in the pyrolysis pathway in breast cancer.
Gasdermin D (GSDMD) Is Upregulated in Psoriatic Skin-A New Potential Link in the Pathogenesis of Psoriasis.
Title: Gasdermin D (GSDMD) Is Upregulated in Psoriatic Skin-A New Potential Link in the Pathogenesis of Psoriasis.
Gasdermin D Plays an Oncogenic Role in Glioma and Correlates to an Immunosuppressive Microenvironment.
Title: Gasdermin D Plays an Oncogenic Role in Glioma and Correlates to an Immunosuppressive Microenvironment.
Gasdermin D represses inflammation-induced colon cancer development by regulating apoptosis.
Title: Gasdermin D represses inflammation-induced colon cancer development by regulating apoptosis.
Gasdermin D-mediated pyroptosis: mechanisms, diseases, and inhibitors.
Title: Gasdermin D-mediated pyroptosis: mechanisms, diseases, and inhibitors.
Copy number variation of gasdermin D gene is associated with atrial fibrillation-related thromboembolic stroke.
Title: Copy number variation of gasdermin D gene is associated with atrial fibrillation-related thromboembolic stroke.
The Role of Gasdermin-D-Mediated Pyroptosis in Organ Injury and Its Therapeutic Implications.
Title: The Role of Gasdermin-D-Mediated Pyroptosis in Organ Injury and Its Therapeutic Implications.
GSDMD-mediated pyroptosis promotes cardiac remodeling in pressure overload.
Title: GSDMD-mediated pyroptosis promotes cardiac remodeling in pressure overload.
Gasdermin-D activation promotes NLRP3 activation and host resistance to Leishmania infection.
Title: Gasdermin-D activation promotes NLRP3 activation and host resistance to Leishmania infection.

Submit: New GeneRIF Correction See all GeneRIFs (83)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

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 cellular response to extracellular stimulus	IEA Inferred from Electronic Annotation more info
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 inflammatory response	IEA Inferred from Electronic Annotation 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 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 pyroptosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in pyroptosis	IDA Inferred from Direct Assay more info	PubMed
involved_in pyroptosis	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	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

Go to the top of the page Help

Preferred Names: gasdermin-D

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

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

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