ENSG00000105928


Homo sapiens

Features
Gene ID: ENSG00000105928
  
Biological name :GSDME
  
Synonyms : gasdermin E / GSDME / O60443
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: p15.3
Gene start: 24698351
Gene end: 24758113
  
Corresponding Affymetrix probe sets: 203695_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000398445
Ensembl peptide - ENSP00000494186
Ensembl peptide - ENSP00000413963
Ensembl peptide - ENSP00000401332
Ensembl peptide - ENSP00000339587
Ensembl peptide - ENSP00000386670
Ensembl peptide - ENSP00000387119
Ensembl peptide - ENSP00000389874
Ensembl peptide - ENSP00000395540
NCBI entrez gene - 1687     See in Manteia.
OMIM - 608798
RefSeq - XM_017011802
RefSeq - NM_001127453
RefSeq - NM_001127454
RefSeq - NM_004403
RefSeq Peptide - NP_004394
RefSeq Peptide - NP_001120925
RefSeq Peptide - NP_001120926
swissprot - A0A024RA58
swissprot - H7BZJ0
swissprot - H7C147
swissprot - H7C0L2
swissprot - O60443
swissprot - C9JSR4
Ensembl - ENSG00000105928
  
Related genetic diseases (OMIM): 600994 - Deafness, autosomal dominant 5, 600994
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gsdmeaENSDARG00000086762Danio rerio
 gsdmebENSDARG00000040485Danio rerio
 DFNA5ENSGALG00000010997Gallus gallus
 GsdmeENSMUSG00000029821Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PJVK / Q0ZLH3 / pejvakinENSG0000020431120


Protein motifs (from Interpro)
Interpro ID Name
 IPR007677  Gasdermin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007605 sensory perception of sound TAS
 biological_processGO:0008219 cell death IMP
 biological_processGO:0008285 negative regulation of cell proliferation IDA
 biological_processGO:0012501 programmed cell death IEA
 biological_processGO:0043410 positive regulation of MAPK cascade IMP
 biological_processGO:0060113 inner ear receptor cell differentiation IEA
 biological_processGO:0070265 necrotic cell death IDA
 biological_processGO:0070269 pyroptosis IDA
 biological_processGO:0071356 cellular response to tumor necrosis factor IDA
 biological_processGO:0098586 cellular response to virus IDA
 biological_processGO:2001244 positive regulation of intrinsic apoptotic signaling pathway IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA
 molecular_functionGO:1901612 cardiolipin binding IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000408 Hearing loss, sensorineural, progressive 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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