GSDME - gasdermin E Gene

Also Known as DFNA5; ICERE-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1687

About GSDME

Cytogenetic location: 7p15.3 Genomic coordinates (GRCh38): 7:24,698,355-24,795,539 (from NCBI)

This gene has 14 transcripts (splice variants), 292 orthologues and is associated with 2 phenotypes. Broad expression in placenta (RPKM 18.9), small intestine (RPKM 11.1) and 19 other tissues.

Summary

Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GSDME Products (3)

mRNA	Protein	Name
NM_001127453.2	NP_001120925.1	gasdermin-E isoform a
NM_001127454.2	NP_001120926.1	gasdermin-E isoform b
NM_004403.3	NP_004394.1	gasdermin-E isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables cardiolipin binding	IDA IDA: Inferred from direct assay	28459430	GOA
enables phosphatidylinositol-4,5-bisphosphate binding	IDA IDA: Inferred from direct assay	28459430	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables wide pore channel activity	IDA IDA: Inferred from direct assay	28459430	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to tumor necrosis factor	IDA IDA: Inferred from direct assay	28459430	GOA
involved in cellular response to virus	IDA IDA: Inferred from direct assay	28045099	GOA
involved in granzyme-mediated programmed cell death signaling pathway	IDA IDA: Inferred from direct assay	31953257	GOA
involved in negative regulation of cell population proliferation	IDA IDA: Inferred from direct assay	18223688	GOA
involved in positive regulation of MAPK cascade	IMP IMP: Inferred from mutant phenotype	26236191	GOA
involved in positive regulation of immune response to tumor cell	IDA IDA: Inferred from direct assay	32188940	GOA
involved in positive regulation of intrinsic apoptotic signaling pathway	IDA IDA: Inferred from direct assay	21522185	GOA
involved in programmed cell death	IMP IMP: Inferred from mutant phenotype	26236191	GOA
involved in pyroptotic cell death	IDA IDA: Inferred from direct assay	32188940	GOA
involved in pyroptotic inflammatory response	IDA IDA: Inferred from direct assay	28459430	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in membrane	IDA IDA: Inferred from direct assay	28459430	GOA
located in membrane	IDA IDA: Inferred from direct assay	28045099	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	28459430	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GSDME Protein Structure

Gasdermin

0
100
200
300
400
496 a.a.

Protein Preferred Names	Protein Names
gasdermin-E	DFNA5, deafness associated tumor suppressor

GSDME Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GSDME	O60443	TIFA	Homo sapiens	Q96CG3	Validated Y2H	32296183
Intra	GSDME	O60443	TIFA	Homo sapiens	Q96CG3	Y2H Array	32296183
Intra	GSDME	O60443	TIFA	Homo sapiens	Q96CG3	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

GSDME Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80697	DFNA5/GSDME Antibody (YA398)	WB, IP	Human
HY-P80697A	DFNA5/GSDME Antibody (YA398)(PBS only)	WB, IP	Human
HY-P86310	DFNA5/GSDME Antibody (YA6002)	WB, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Deafness, Autosomal Dominant 5	DFNA5 Autosomal Dominant Nonsyndromic Deafness 5 Autosomal Dominant Deafness 5 Deafness, Autosomal Dominant, 5 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 5 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 5 Deafness, Autosomal Dominant, Type 5
Rare Genetic Deafness	Rare Genetic Hearing Loss
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Deafness Type Dfna Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna Autosomal Dominant Isolated Sensorineural Deafness Type Dfna Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
Deafness, Autosomal Dominant 23	DFNA23 Autosomal Dominant Nonsyndromic Deafness 23 Autosomal Dominant Deafness 23 Deafness, Autosomal Dominant, 23 Deafness, Autosomal Dominant, Type 23
Deafness, Autosomal Dominant 9	DFNA9 Autosomal Dominant Nonsyndromic Deafness 9 Autosomal Dominant Deafness 9 Deafness, Autosomal Dominant, 9 Deafness, Autosomal Dominant, Type 9
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Deafness, Autosomal Dominant 28	DFNA28 Autosomal Dominant Nonsyndromic Deafness 28 Autosomal Dominant Deafness 28 Deafness, Autosomal Dominant, 28 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 28 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 28 Deafness, Autosomal Dominant, Type 28
Deafness, Autosomal Dominant 59	DFNA59 Autosomal Dominant Nonsyndromic Deafness 59 Autosomal Dominant Deafness 59
Deafness, Autosomal Dominant 51	Chromosome 9q21.11 Duplication Syndrome DFNA51 Autosomal Dominant Nonsyndromic Deafness 51 Autosomal Dominant Deafness 51 Deafness, Autosomal Dominant, Type 51
Deafness, Autosomal Dominant 4a	Deafness, Autosomal Dominant 4 DFNA4A Dfna4 Autosomal Dominant Nonsyndromic Deafness 4a Autosomal Dominant Deafness 4a Deafness, Autosomal Dominant, 4a Deafness Autosomal Dominant 4 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 4 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 4 Deafness, Autosomal Dominant, Type 4a
Deafness, Autosomal Dominant 18	DFNA18 Autosomal Dominant Nonsyndromic Deafness 18 Autosomal Dominant Deafness 18
Holoprosencephaly 2	HPE2 Holoprosencephaly-2 Holoprosencephaly, Type 2
Deafness, Autosomal Dominant 15	DFNA15 Autosomal Dominant Nonsyndromic Deafness 15 Autosomal Dominant Deafness 15 Deafness, Autosomal Dominant, 15 Deafness, Autosomal Dominant, Type 15
Deafness, Autosomal Dominant 41	DFNA41 Autosomal Dominant Nonsyndromic Deafness 41 Autosomal Dominant Deafness 41 Deafness, Autosomal Dominant, 41 Deafness, Autosomal Dominant, Type 41
Deafness, Autosomal Dominant 21	DFNA21 Autosomal Dominant Nonsyndromic Deafness 21 Autosomal Dominant Deafness 21 Deafness, Autosomal Dominant, 21
Deafness, Autosomal Dominant 17	DFNA17 Autosomal Dominant Nonsyndromic Deafness 17 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 Autosomal Dominant Deafness 17 Late-Onset Progressive Hereditary Hearing Impairment Due To Cochleosaccular Degeneration Nonsyndromic Hereditary Deafness Dfna17 Deafness, Autosomal Dominant, 17 Cochleosaccular Degeneration Deafness, Autosomal Dominant, Type 17 Cochleosaccular Degeneration Of The Inner Ear And Progressive Cataracts
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B0621	Triclabendazole	Inhibitor	99.36%	Yes

Pre-clinical Phase

Bioactive Molecules (10)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-111770	2-Bromohexadecanoic acid	Inhibitor	99.95%	Unkown
HY-P10939A	Ac-DMLD-CMK TFA	Inhibitor	98.44%	Unkown
HY-RS05858	GSDME Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16846	Gsdme Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-175381	DeFer-2		98.25%	Unkown
HY-181005	FGFR-IN-25		/	Unkown
HY-B0621S	Triclabendazole-d3		/	Unkown
HY-N15380	4,4′-Secalonic acid D		/	Unkown
HY-P10939	Ac-DMLD-CMK	Inhibitor	/	Unkown
HY-RS23287	Gsdme Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GSDME	RGD	RGD:727871
Bos taurus	GSDME	VGNC	VGNC:28019
Macaca mulatta	GSDME	VGNC	VGNC:73249
Canis familiaris	GSDME	VGNC	VGNC:39911
Mus musculus	GSDME	MGD	MGI:1889850
Felis catus	GSDME	VGNC	VGNC:62727
Others	GSDME	NCBI