Gsdmd MGI Mouse Gene Detail - MGI:1916396

Symbol

Gsdmd
Name

gasdermin D
Synonyms

1810036L03Rik, DF5L, Dfna5l, Gsdmdc1, M2-4

Feature Type

protein coding gene
IDs

MGI:1916396
NCBI Gene: 69146
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr15:75734176-75739257 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 35.00 cM, cytoband D3-E1
Mapping Data

3 experiments

SNPs within 2kb

26 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916396	protein coding gene	Chr15:75733990-75739257 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0021960	protein coding gene	Chr15:75903465-75909624 (+)
A/J	MGP_AJ_G0021918	protein coding gene	Chr15:73144409-73149533 (+)
AKR/J	MGP_AKRJ_G0021901	protein coding gene	Chr15:75111734-75118392 (+)
BALB/cJ	MGP_BALBcJ_G0021927	protein coding gene	Chr15:73159766-73164867 (+)
C3H/HeJ	MGP_C3HHeJ_G0021699	protein coding gene	Chr15:75183397-75188466 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0022367	protein coding gene	Chr15:78738745-78743810 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019898	protein coding gene	Chr15:69817093-69822034 (+)
CAST/EiJ	MGP_CASTEiJ_G0021218	protein coding gene	Chr15:75960296-75965325 (+)
CBA/J	MGP_CBAJ_G0021666	protein coding gene	Chr15:81251654-81256704 (+)
DBA/2J	MGP_DBA2J_G0021791	protein coding gene	Chr15:72674414-72679483 (+)
FVB/NJ	MGP_FVBNJ_G0021772	protein coding gene	Chr15:71723475-71728963 (+)
LP/J	MGP_LPJ_G0021862	protein coding gene	Chr15:75990355-75995403 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021796	protein coding gene	Chr15:86564363-86569425 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0022387	protein coding gene	Chr15:75365528-75370586 (+)
PWK/PhJ	MGP_PWKPhJ_G0020959	protein coding gene	Chr15:72809141-72814241 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0020798	protein coding gene	Chr15:75096336-75101377 (+)
WSB/EiJ	MGP_WSBEiJ_G0021270	protein coding gene	Chr15:75451747-75456777 (+)

Human Ortholog

GSDMD, gasdermin D

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

GSDMD, gasdermin D
Synonyms

DF5L, DFNA5L, FKSG10, GSDMDC1
Links

HGNC:25697

NCBI Gene ID: 79792

neXtProt AC: NX_P57764

UniProt: P57764
Chr Location

8q24.3; chr8:143553207-143563062 (+) GRCh38

MGI Vertebrate Homology

Gsdmd stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: GSDMD
Gene Tree

Gsdmd

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References

1 with disease annotations

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Phenotype Summary

6 phenotypes from 7 alleles in 5 genetic backgrounds
141 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

39
Chemically induced (ENU)

2
Chemically induced (other)

3
Endonuclease-mediated

20
Gene trapped

5
Radiation induced

2
Targeted

7
Genomic Mutations

5 involving Gsdmd
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

32 strains or lines available

Mice homozygous for a knock-out allele are viable and grossly normal with no apparent defects in the development and maintenance of the intestinal epithelium. Mice homozygous for another null allele exhibit impaired induced pyroptosis and Il1b secretion.

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All GO Annotations

42
GO References

14

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

778
Tissues

40
cDNA Data

37
Literature Summary

7

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

49
RefSeq

6
UniProt

4
CCDS

CCDS27551.1

Ensembl

ENSMUSG00000022575 (Evidence)
NCBI Gene

69146

			Length	Strain/Species	Flank
genomic	ENSMUSG00000022575	Ensembl Gene Model \| MGI Sequence Detail	5082	C57BL/6J	± kb
transcript	ENSMUST00000023238	Ensembl \| MGI Sequence Detail	1792	Not Applicable
polypeptide	ENSMUSP00000023238	Ensembl \| MGI Sequence Detail	487	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000029521 gasdermin-D

(term hierarchy)
PDB

6AO3, 6KMV, 6N9N, 6VIE
InterPro Domains

IPR040460 Gasdermin, pore forming domain

IPR041263 Gasdermin, PUB domain

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All nucleic 38

cDNA 37

Primer pair 1

Microarray probesets 3

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MGI:2146243

Summaries

All 211

Developmental Gene Expression 7

Diseases 1

Gene Ontology 14

Phenotypes 141
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:343254 Doglio MG, et al., Myeloid OTULIN deficiency couples RIPK3-dependent cell death to Nlrp3 inflammasome activation and IL-1beta secretion. Sci Immunol. 2023 Nov 24;8(89):eadf4404

TSS for Gsdmd:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr131680	Chr15:75734159-75734219 (+)	13 bp
Tssr131681	Chr15:75735077-75735087 (+)	906 bp
Tssr131682	Chr15:75735092-75735116 (+)	928 bp
Tssr131683	Chr15:75735128-75735143 (+)	960 bp
Tssr131684	Chr15:75735610-75735612 (+)	1,435 bp
Tssr131685	Chr15:75737921-75737949 (+)	3,759 bp
Tssr131686	Chr15:75738980-75738989 (+)	4,809 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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