GSDME - gasdermin E Gene

Homo sapiens

Also known as DFNA5; ICERE-1

Gene ID: 1687 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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	GSDME Antibody	WB, IP	Human

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B0621	Triclabendazole	Inhibitor	98.72%	Yes

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-111770	2-Bromohexadecanoic acid	Inhibitor	99.95%	Unkown
HY-RS05858	GSDME Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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