Format

Send to:

Choose Destination

GSDME gasdermin E [ Homo sapiens (human) ]

Gene ID: 1687, updated on 19-Aug-2018

Summary

Official Symbol
GSDMEprovided by HGNC
Official Full Name
gasdermin Eprovided by HGNC
Primary source
HGNC:HGNC:2810
See related
Ensembl:ENSG00000105928 MIM:608798; Vega:OTTHUMG00000023237
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DFNA5; ICERE-1
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. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in placenta (RPKM 18.9), small intestine (RPKM 11.1) and 19 other tissues See more
Orthologs

Genomic context

See GSDME in Genome Data Viewer
Location:
7p15.3
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (24698355..24762235, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (24737974..24797639, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1103, pseudogene Neighboring gene SUMO2 pseudogene 14 Neighboring gene membrane palmitoylated protein 6 Neighboring gene uncharacterized LOC107986779 Neighboring gene oxysterol binding protein like 3 Neighboring gene small nuclear ribonucleoprotein polypeptide C pseudogene 19

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cardiolipin binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-4,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cell death IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to tumor necrosis factor IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to virus IDA
Inferred from Direct Assay
more info
PubMed 
inner ear receptor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
necrotic cell death IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of MAPK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of intrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
pyroptosis IDA
Inferred from Direct Assay
more info
PubMed 
sensory perception of sound TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
gasdermin-E
Names
DFNA5, deafness associated tumor suppressor
inversely correlated with estrogen receptor expression 1
non-syndromic hearing impairment protein 5
nonsyndromic hearing impairment protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011593.1 RefSeqGene

    Range
    5001..64666
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001127453.1NP_001120925.1  gasdermin-E isoform a

    See identical proteins and their annotated locations for NP_001120925.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode isoform a.
    Source sequence(s)
    AF131765, BC125065, DA820184
    Consensus CDS
    CCDS5389.1
    UniProtKB/Swiss-Prot
    O60443
    UniProtKB/TrEMBL
    A0A024RA58
    Related
    ENSP00000494186.1, OTTHUMP00000202025, ENST00000645220.1, OTTHUMT00000326887
    Conserved Domains (1) summary
    pfam04598
    Location:1468
    Gasdermin; Gasdermin family
  2. NM_001127454.1NP_001120926.1  gasdermin-E isoform b

    See identical proteins and their annotated locations for NP_001120926.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1, resulting in an isoform (b) that uses a downstream start site compared to isoform a.
    Source sequence(s)
    AF131765, BC125065, BC125066, DA197867, DA908548
    Consensus CDS
    CCDS47563.1
    UniProtKB/Swiss-Prot
    O60443
    UniProtKB/TrEMBL
    A4FVA8
    Related
    ENSP00000401332.1, ENST00000419307.6
    Conserved Domains (1) summary
    pfam04598
    Location:1304
    Gasdermin; Gasdermin family
  3. NM_004403.2NP_004394.1  gasdermin-E isoform a

    See identical proteins and their annotated locations for NP_004394.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode isoform a.
    Source sequence(s)
    AC003093, AF073308, AF131765, BC125065
    Consensus CDS
    CCDS5389.1
    UniProtKB/Swiss-Prot
    O60443
    UniProtKB/TrEMBL
    A0A024RA58
    Related
    ENSP00000339587.3, OTTHUMP00000122464, ENST00000342947.8, OTTHUMT00000214060
    Conserved Domains (1) summary
    pfam04598
    Location:1468
    Gasdermin; Gasdermin family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    24698355..24762235 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446670.1XP_024302438.1  gasdermin-E isoform X1

    Conserved Domains (1) summary
    pfam04598
    Location:1468
    Gasdermin; Gasdermin family
  2. XM_017011802.1XP_016867291.1  gasdermin-E isoform X2

    UniProtKB/Swiss-Prot
    O60443
    Related
    ENSP00000387119.1, OTTHUMP00000202026, ENST00000409970.6, OTTHUMT00000326889
    Conserved Domains (1) summary
    pfam04598
    Location:1304
    Gasdermin; Gasdermin family
Support Center