Seroatlas · Human Serome Atlas

GSDME

Gasdermin-E

Also known as: DFNA5, GSDME_HUMAN, ICERE-1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O60443
Gene: GSDME
Ensembl: ENSG00000105928
Chromosome: 7
Canonical length: 496 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location: Cytosol
Quaternary structure: Homooligomer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

496 residues, UniProt reviewed canonical sequence.

>O60443|GSDME
     1  MFAKATRNFL REVDADGDLI AVSNLNDSDK LQLLSLVTKK KRFWCWQRPK YQFLSLTLGD
    61  VLIEDQFPSP VVVESDFVKY EGKFANHVSG TLETALGKVK LNLGGSSRVE SQSSFGTLRK
   121  QEVDLQQLIR DSAERTINLR NPVLQQVLEG RNEVLCVLTQ KITTMQKCVI SEHMQVEEKC
   181  GGIVGIQTKT VQVSATEDGN VTKDSNVVLE IPAATTIAYG VIELYVKLDG QFEFCLLRGK
   241  QGGFENKKRI DSVYLDPLVF REFAFIDMPD AAHGISSQDG PLSVLKQATL LLERNFHPFA
   301  ELPEPQQTAL SDIFQAVLFD DELLMVLEPV CDDLVSGLSP TVAVLGELKP RQQQDLVAFL
   361  QLVGCSLQGG CPGPEDAGSK QLFMTAYFLV SALAEMPDSA AALLGTCCKL QIIPTLCHLL
   421  RALSDDGVSD LEDPTLTPLK DTERFGIVQR LFASADISLE RLKSSVKAVI LKDSKVFPLL
   481  LCITLNGLCA LGREHS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GSDME can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.26
Highest tissue expression: 40 nTPM

Expression across tissuesHPA

Tissue

spinal cord: 40 nTPM
placenta: 33 nTPM
small intestine: 25 nTPM
endometrium: 25 nTPM
seminal vesicle: 20 nTPM
cervix: 18 nTPM

Single-cell type

cytotrophoblasts: 213 nCPM
oocytes: 129 nCPM
migrating cytotrophoblasts: 124 nCPM
syncytiotrophoblasts: 116 nCPM
epicardial cells: 105 nCPM
bergmann glia: 83 nCPM

Immune cell

memory B-cell: 9.1 nTPM
naive B-cell: 8.4 nTPM
myeloid DC: 5.8 nTPM
classical monocyte: 1.9 nTPM
total PBMC: 0.6 nTPM
intermediate monocyte: 0.2 nTPM

Brain region

white matter: 53 nTPM
medulla oblongata: 38 nTPM
midbrain: 36 nTPM
hippocampal formation: 34 nTPM
cerebral cortex: 33 nTPM
spinal cord: 32 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GSDME.

Disease | AllUniProt

Conditions GSDME is implicated in, by any mechanism.

Deafness, autosomal dominant, 5 (DFNA5) MIM:600994

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 448 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal dominant nonsyndromic hearing loss 5
Rare genetic deafness
Monogenic hearing loss

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.13
gnomAD pLI: 0
DepMap mean gene effect: 0.04
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GSDME as an antibody target. Whether an autoantibody or antibody against GSDME could matter depends on whether native GSDME is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GSDME is annotated at the cell surface, where native GSDME is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label GSDME as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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