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Aliases for GSDMC Gene

Aliases for GSDMC Gene

  • Gasdermin C 2 3 5
  • Melanoma-Derived Leucine Zipper-Containing Extranuclear Factor 3 4
  • Melanoma-Derived Leucine Zipper, Extra-Nuclear Factor 2 3
  • MLZE 3 4
  • Gasdermin-C 3

External Ids for GSDMC Gene

Previous HGNC Symbols for GSDMC Gene

  • MLZE

Previous GeneCards Identifiers for GSDMC Gene

  • GC08M130830
  • GC08M126079

Summaries for GSDMC Gene

GeneCards Summary for GSDMC Gene

GSDMC (Gasdermin C) is a Protein Coding gene. An important paralog of this gene is GSDMA.

UniProtKB/Swiss-Prot for GSDMC Gene

  • Upon activation, mediates pyroptosis.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GSDMC Gene

Genomics for GSDMC Gene

Regulatory Elements for GSDMC Gene

Enhancers for GSDMC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around GSDMC on UCSC Golden Path with GeneCards custom track

Genomic Location for GSDMC Gene

Chromosome:
8
Start:
129,705,903 bp from pter
End:
129,786,888 bp from pter
Size:
80,986 bases
Orientation:
Minus strand

Genomic View for GSDMC Gene

Genes around GSDMC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GSDMC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GSDMC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GSDMC Gene

Proteins for GSDMC Gene

  • Protein details for GSDMC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYG8-GSDMC_HUMAN
    Recommended name:
    Gasdermin-C
    Protein Accession:
    Q9BYG8
    Secondary Accessions:
    • Q5XKF3
    • Q6P494

    Protein attributes for GSDMC Gene

    Size:
    508 amino acids
    Molecular mass:
    57692 Da
    Quaternary structure:
    No Data Available

neXtProt entry for GSDMC Gene

Post-translational modifications for GSDMC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GSDMC Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GSDMC Gene

Domains & Families for GSDMC Gene

Protein Domains for GSDMC Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GSDMC Gene

Graphical View of Domain Structure for InterPro Entry

Q9BYG8

UniProtKB/Swiss-Prot:

GSDMC_HUMAN :
  • Intramolecular interactions between N- and C-terminal domains may be important for autoinhibition in the absence of activation signal. The intrinsic pyroptosis-inducing activity is carried by the N-terminal domain.
  • Belongs to the gasdermin family.
Domain:
  • Intramolecular interactions between N- and C-terminal domains may be important for autoinhibition in the absence of activation signal. The intrinsic pyroptosis-inducing activity is carried by the N-terminal domain.
Family:
  • Belongs to the gasdermin family.
genes like me logo Genes that share domains with GSDMC: view

No data available for Gene Families for GSDMC Gene

Function for GSDMC Gene

Molecular function for GSDMC Gene

UniProtKB/Swiss-Prot Function:
Upon activation, mediates pyroptosis.

Gene Ontology (GO) - Molecular Function for GSDMC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with GSDMC: view
genes like me logo Genes that share phenotypes with GSDMC: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GSDMC Gene

Localization for GSDMC Gene

Subcellular locations from UniProtKB/Swiss-Prot for GSDMC Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GSDMC Gene COMPARTMENTS Subcellular localization image for GSDMC gene
Compartment Confidence
cytoskeleton 5
mitochondrion 5
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for GSDMC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 11223543
GO:0005739 mitochondrion IDA --
GO:0005815 microtubule organizing center IDA --
genes like me logo Genes that share ontologies with GSDMC: view

Pathways & Interactions for GSDMC Gene

SuperPathways for GSDMC Gene

No Data Available

Interacting Proteins for GSDMC Gene

Selected Interacting proteins: Q9BYG8-GSDMC_HUMAN for GSDMC Gene via IID

Symbol External ID(s) Details
DFNA5
DFNB59

Gene Ontology (GO) - Biological Process for GSDMC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0012501 programmed cell death IEA --
genes like me logo Genes that share ontologies with GSDMC: view

No data available for Pathways by source and SIGNOR curated interactions for GSDMC Gene

Drugs & Compounds for GSDMC Gene

No Compound Related Data Available

Transcripts for GSDMC Gene

mRNA/cDNA for GSDMC Gene

Unigene Clusters for GSDMC Gene

Gasdermin C:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GSDMC Gene

No ASD Table

Relevant External Links for GSDMC Gene

GeneLoc Exon Structure for
GSDMC
ECgene alternative splicing isoforms for
GSDMC

Expression for GSDMC Gene

mRNA expression in normal human tissues for GSDMC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GSDMC Gene

This gene is overexpressed in Esophagus - Mucosa (x13.4), Skin - Not Sun Exposed (Suprapubic) (x10.4), Skin - Sun Exposed (Lower leg) (x9.7), Spleen (x6.5), and Vagina (x4.5).

Protein differential expression in normal tissues from HIPED for GSDMC Gene

This gene is overexpressed in NK cells (44.7) and Platelet (24.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GSDMC Gene



Protein tissue co-expression partners for GSDMC Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GSDMC Gene:

GSDMC

SOURCE GeneReport for Unigene cluster for GSDMC Gene:

Hs.133244

mRNA Expression by UniProt/SwissProt for GSDMC Gene:

Q9BYG8-GSDMC_HUMAN
Tissue specificity: Expressed mainly in trachea and spleen (PubMed:11223543). In the esophagus, expressed in differentiating cells and probably in differentiated cells. Also detected in gastric epithelium (PubMed:19051310).
genes like me logo Genes that share expression patterns with GSDMC: view

Primer Products

Orthologs for GSDMC Gene

This gene was present in the common ancestor of chordates.

Orthologs for GSDMC Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC508492 34
  • 69.91 (n)
  • 55.28 (a)
GSDMC 35
  • 51 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC609825 34
  • 72.93 (n)
  • 58.76 (a)
GSDMC 35
  • 54 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gsdmc 34
  • 66.37 (n)
  • 52.09 (a)
Gsdmc4 16
Gsdmc 35
  • 47 (a)
OneToMany
Gsdmc2 35
  • 46 (a)
OneToMany
Gsdmc3 35
  • 46 (a)
OneToMany
Gsdmc4 35
  • 45 (a)
OneToMany
Gsdmcl1 35
  • 30 (a)
OneToMany
Gsdmcl2 35
  • 30 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia GSDMC 34
  • 99.48 (n)
  • 98.82 (a)
GSDMC 35
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gsdmc 34
  • 67.46 (n)
  • 53.26 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 37 (a)
OneToMany
-- 35
  • 40 (a)
OneToMany
-- 35
  • 33 (a)
OneToMany
-- 35
  • 36 (a)
OneToMany
-- 35
  • 35 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 38 (a)
OneToMany
chicken
(Gallus gallus)
Aves GSDMA 35
  • 22 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 20 (a)
OneToMany
Species where no ortholog for GSDMC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for GSDMC Gene

ENSEMBL:
Gene Tree for GSDMC (if available)
TreeFam:
Gene Tree for GSDMC (if available)

Paralogs for GSDMC Gene

Paralogs for GSDMC Gene

genes like me logo Genes that share paralogs with GSDMC: view

Variants for GSDMC Gene

Sequence variations from dbSNP and Humsavar for GSDMC Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs10090835 - 129,777,521(+) GACAG(A/G)TGTCA nc-transcript-variant, upstream-variant-2KB, reference, missense
rs16904151 - 129,765,749(+) CTCTC(C/T)TCCGG nc-transcript-variant, reference, synonymous-codon, missense
rs4144738 - 129,748,604(+) GCTCC(A/G)TCCTA intron-variant, downstream-variant-500B, reference, missense, utr-variant-3-prime
rs967974 -- 129,777,832(+) TCTCC(A/G)CCTCA intron-variant, upstream-variant-2KB
rs1074286 -- 129,725,355(+) TCATG(C/T)GTTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GSDMC Gene

Variant ID Type Subtype PubMed ID
esv3576607 CNV gain 25503493
esv3618818 CNV loss 21293372
esv3618819 CNV loss 21293372
nsv1023632 CNV gain 25217958
nsv39 CNV insertion 15895083
nsv509278 CNV insertion 20534489
nsv510986 OTHER complex 20534489
nsv6395 CNV insertion 18451855

Variation tolerance for GSDMC Gene

Residual Variation Intolerance Score: 93.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.90; 59.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GSDMC Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GSDMC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GSDMC Gene

Disorders for GSDMC Gene

Relevant External Links for GSDMC

Genetic Association Database (GAD)
GSDMC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GSDMC

No disorders were found for GSDMC Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GSDMC Gene

Publications for GSDMC Gene

  1. Members of a novel gene family, Gsdm, are expressed exclusively in the epithelium of the skin and gastrointestinal tract in a highly tissue-specific manner. (PMID: 17350798) Tamura M. … Shiroishi T. (Genomics 2007) 2 3 4 65
  2. Distinctive expression and function of four GSDM family genes (GSDMA-D) in normal and malignant upper gastrointestinal epithelium. (PMID: 19051310) Saeki N. … Sasaki H. (Genes Chromosomes Cancer 2009) 3 4 65
  3. Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. (PMID: 19270707) Birnbaum S. … Mangold E. (Nat. Genet. 2009) 3 46 65
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65
  5. Structure, expression and chromosome mapping of MLZE, a novel gene which is preferentially expressed in metastatic melanoma cells. (PMID: 11223543) Watabe K. … Nojima H. (Jpn. J. Cancer Res. 2001) 3 4 65

Products for GSDMC Gene

Sources for GSDMC Gene

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