• Gene id: 1687

Gene Summary

• Gene Symbol: GSDME   Gene   UCSC   Ensembl
• Aliases: DFNA5, ICERE-1
• Gene name: gasdermin E
• Alternate names: gasdermin-E, DFNA5, deafness associated tumor suppressor, inversely correlated with estrogen receptor expression 1, non-syndromic hearing impairment protein 5, nonsyndromic hearing impairment protein,
• Gene location: 7p15.3 (24762234: 24698354)     Exons: 13     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 608798

Protein Summary

• Protein general information: O60443  
  • 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)]
  • Length: 496  
  • Mass: 54555
  • Tissue specificity: Expressed in cochlea. Low level of expression in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas, with highest expression in placenta.
• Sequence:

  MFAKATRNFLREVDADGDLIAVSNLNDSDKLQLLSLVTKKKRFWCWQRPKYQFLSLTLGDVLIEDQFPSPVVVES
  DFVKYEGKFANHVSGTLETALGKVKLNLGGSSRVESQSSFGTLRKQEVDLQQLIRDSAERTINLRNPVLQQVLEG
  RNEVLCVLTQKITTMQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYGVIELY
  VKLDGQFEFCLLRGKQGGFENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSQDGPLSVLKQATLLLERNFHPFA
  ELPEPQQTALSDIFQAVLFDDELLMVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPE
  DAGSKQLFMTAYFLVSALAEMPDSAAALLGTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQR
  LFASADISLERLKSSVKAVILKDSKVFPLLLCITLNGLCALGREHS

• Structural information:
  • Interpro: IPR040460  IPR041263  IPR042377  
  • STRING: ENSP00000339587
• Other Databases: GeneCards:  GSDME  Malacards:  GSDME

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071356	cellular response to tumor necrosis factor	IDA	biological process
GO:1901612	cardiolipin binding	IDA	molecular function
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0070265	necrotic cell death	IDA	biological process
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0070269	pyroptosis	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0098586	cellular response to virus	IDA	biological process
GO:0043410	positive regulation of MAPK cascade	IMP	biological process
GO:0008219	cell death	IMP	biological process
GO:0008219	cell death	IEA	biological process
GO:0012501	programmed cell death	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007605	sensory perception of sound	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1901612	cardiolipin binding	IEA	molecular function
GO:0070265	necrotic cell death	IEA	biological process
GO:0060113	inner ear receptor cell differentiation	IEA	biological process
GO:0098586	cellular response to virus	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway	IDA	biological process

Diseases

Associated diseases	References
Deafness, autosomal dominant	KEGG:H00604
Deafness, autosomal dominant	KEGG:H00604
Sensorineural hearing loss	PMID:9771715
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq