Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1687
Gene name	Gasdermin E
Gene symbol	GSDME
Synonyms (NCBI Gene)	DFNA5ICERE-1
Chromosome	7
Chromosome location	7p15.3
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. Th

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138980048	G>A,C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs149956122	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200758965	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, stop gained
rs374353052	TCA>-	Likely-pathogenic, likely-benign, uncertain-significance	Inframe deletion, coding sequence variant
rs727505273	AAG>-	Pathogenic	Intron variant
rs1554322596	C>T	Likely-pathogenic	Splice donor variant
rs1562687295	T>C	Pathogenic	Intron variant
rs1562687726	G>C	Pathogenic	Intron variant

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002839	Process	Positive regulation of immune response to tumor cell	IDA	32188940
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	28459430
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	28459430
GO:0005886	Component	Plasma membrane	IEA
GO:0007605	Process	Sensory perception of sound	TAS	9771715
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	18223688
GO:0012501	Process	Programmed cell death	IEA
GO:0012501	Process	Programmed cell death	IMP	26236191
GO:0016020	Component	Membrane	IDA	28459430
GO:0016020	Component	Membrane	IDA	28045099
GO:0016020	Component	Membrane	IEA
GO:0022829	Function	Wide pore channel activity	IDA	28459430, 32188940, 33852854, 35594856
GO:0042491	Process	Inner ear auditory receptor cell differentiation	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IMP	26236191
GO:0055085	Process	Transmembrane transport	IEA
GO:0070269	Process	Pyroptotic inflammatory response	IDA	28459430, 31953257, 32188940, 33852854, 35594856
GO:0070269	Process	Pyroptotic inflammatory response	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IDA	28459430
GO:0098586	Process	Cellular response to virus	IDA	28045099
GO:0098586	Process	Cellular response to virus	IEA
GO:0140507	Process	Granzyme-mediated programmed cell death signaling pathway	IDA	31953257, 32188940
GO:0141201	Process	Pyroptotic cell death	IDA	37198476, 38614101
GO:0141201	Process	Pyroptotic cell death	IDA	32188940, 33852854, 35594856
GO:1901612	Function	Cardiolipin binding	IDA	28459430
GO:1901612	Function	Cardiolipin binding	IEA
GO:2001244	Process	Positive regulation of intrinsic apoptotic signaling pathway	IDA	21522185

MIM	HGNC	e!Ensembl
608798	2810	ENSG00000105928

O60443

Protein name

Gasdermin-E (Inversely correlated with estrogen receptor expression 1) (ICERE-1) (Non-syndromic hearing impairment protein 5) [Cleaved into: Gasdermin-E, N-terminal (GSDME-NT); Gasdermin-E, C-terminal (GSDME-CT)]

Protein function

[Gasdermin-E]: Precursor of a pore-forming protein that converts non-inflammatory apoptosis to pyroptosis (PubMed:27281216, PubMed:28459430, PubMed:33852854, PubMed:35594856, PubMed:36607699). This form constitutes the precursor of the pore-form

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04598	Gasdermin	1 → 246	Gasdermin pore forming domain	Domain
PF17708	Gasdermin_C	279 → 468	Gasdermin PUB domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in cochlea (PubMed:9771715). Low level of expression in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas, with highest expression in placenta (PubMed:9771715). {ECO:0000269|PubMed:9771715}.

Sequence

MFAKATRNFLREVDADGDLIAVSNLNDSDKLQLLSLVTKKKRFWCWQRPKYQFLSLTLGD
VLIEDQFPSPVVVESDFVKYEGKFANHVSGTLETALGKVKLNLGGSSRVESQSSFGTLRK
QEVDLQQLIRDSAERTINLRNPVLQQVLEGRNEVLCVLTQKITTMQKCVISEHMQVEEKC
GGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYGVIELYVKLDGQFEFCLLRGK
QGGFENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSQDGPLSVLKQATLLLERNFHPFA
ELPEPQQTALSDIFQAVLFDDELLMVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFL
QLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSAAALLGTCCKLQIIPTLCHLL
RALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLL
LCITLNGLCALGREHS

Sequence length

496

Interactions

View interactions

	KEGG
	Cytosolic DNA-sensing pathway

128

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant nonsyndromic hearing loss 5	Pathogenic	rs2128047712, rs1562687726, rs1562687295, rs727505273, rs2534973457	RCV001726686 RCV000002173 RCV000002174 RCV001808425 RCV003221318
Monogenic hearing loss	Pathogenic	rs727505273	RCV006250169
Rare genetic deafness	Pathogenic	rs727505273	RCV000156800

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs2521768	RCV005918505
Gastric cancer	Benign; Likely benign	rs73288039	RCV005904007
GSDME-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs755613828, rs573258363, rs374353052, rs758488919, rs149956122, rs551846110, rs144358787, rs1789197858, rs397516910	RCV003407809 RCV004756381 RCV003907418 RCV003937850 RCV003930191 RCV004730938 RCV003912541 RCV003982675 RCV003924922
Hearing impairment	Conflicting classifications of pathogenicity	rs376564087	RCV001375130
Hepatocellular carcinoma	Benign	rs2521768	RCV005918504
Nonsyndromic genetic hearing loss	Conflicting classifications of pathogenicity	rs758488919	RCV001544543
Nonsyndromic Hearing Loss, Mixed	Uncertain significance; Likely benign	rs886062224, rs550014047, rs748682263, rs149380955, rs77276759, rs201456060, rs886062221, rs886062226, rs138173985	RCV000300706 RCV000353538 RCV000309273 RCV000324574 RCV000351521 RCV000387429 RCV000262723 RCV000277643 RCV000391718
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs73288039	RCV005904008
Sensorineural hearing loss disorder	Uncertain significance	rs148449230	RCV000626756
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs73288039	RCV005904009

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aging Premature	Associate	34433433
Breast Neoplasms	Associate	18346456, 28404884, 29682089, 9523727
Carcinogenesis	Associate	30091681
Colorectal Neoplasms	Inhibit	35923131
Deafness	Associate	17083569, 17616391, 26365971, 29266521, 32486382, 34997062
Hearing Loss	Associate	17616391, 19911014, 24164807, 26365971, 29266521, 29849037, 32486382, 34433433, 35114279
Hearing Loss Noise Induced	Associate	26400775
Hearing Loss Sensorineural	Associate	19911014
Hereditary Breast and Ovarian Cancer Syndrome	Associate	28404884
Infections	Associate	34506598
Lymphatic Metastasis	Associate	18346456
Melanoma	Associate	11297734
Mouth Neoplasms	Associate	30091681
Neoplasms	Associate	18346456
Neoplasms	Inhibit	28404884, 29682089, 34433433, 35923131
Nonsyndromic Deafness	Associate	11297734, 26365971, 32486382, 35864542
Nonsyndromic sensorineural hearing loss	Associate	19911014, 35864542
Papillomavirus Infections	Associate	30091681
Squamous Cell Carcinoma of Head and Neck	Associate	30091681, 34433433
Stomach Neoplasms	Associate	17083569, 33407483
Stomach Neoplasms	Inhibit	17616391
Tinnitus	Associate	26400775

GSDME (gasdermin E)