• Gene id: 56169

Gene Summary

• Gene Symbol: GSDMC   Gene   UCSC   Ensembl
• Aliases: MLZE
• Gene name: gasdermin C
• Alternate names: gasdermin-C, melanoma-derived leucine zipper, extra-nuclear factor, melanoma-derived leucine zipper-containing extranuclear factor,
• Gene location: 8q24.21 (129786623: 129705902)     Exons: 21     NC_000008.11
• OMIM: 603762

Protein Summary

• Protein general information: Q9BYG8  
  • Name: Gasdermin C (Melanoma derived leucine zipper containing extranuclear factor)
  • Length: 508  
  • Mass: 57692
  • Tissue specificity: Expressed mainly in trachea and spleen (PubMed
• Sequence:

  MPSMLERISKNLVKEIGSKDLTPVKYLLSATKLRQFVILRKKKDSRSSFWEQSDYVPVEFSLNDILEPSSSVLET
  VVTGPFHFSDIMIQKHKADMGVNVGIEVSVSGEASVDHGCSLEFQIVTIPSPNLEDFQKRKLLDPEPSFLKECRR
  RGDNLYVVTEAVELINNTVLYDSSSVNILGKIALWITYGKGQGQGESLRVKKKALTLQKGMVMAYKRKQLVIKEK
  AILISDDDEQRTFQDEYEISEMVGYCAARSEGLLPSFHTISPTLFNASSNDMKLKPELFLTQQFLSGHLPKYEQV
  HILPVGRIEEPFWQNFKHLQEEVFQKIKTLAQLSKDVQDVMFYSILAMLRDRGALQDLMNMLELDSSGHLDGPGG
  AILKKLQQDSNHAWFNPKDPILYLLEAIMVLSDFQHDLLACSMEKRILLQQQELVRSILEPNFRYPWSIPFTLKP
  ELLAPLQSEGLAITYGLLEECGLRMELDNPRSTWDVEAKMPLSALYGTLSLLQQLAEA

• Structural information:
  • Interpro: IPR007677  IPR040460  IPR041263  
  • STRING: ENSP00000276708
• Other Databases: GeneCards:  GSDMC  Malacards:  GSDMC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070273	phosphatidylinositol-4-phosphate binding	IBA	molecular function
GO:0001786	phosphatidylserine binding	IBA	molecular function
GO:0070269	pyroptosis	IBA	biological process
GO:0042742	defense response to bacterium	IBA	biological process
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IBA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0012501	programmed cell death	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray