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
  • Gasdermin-C 3 4
  • MLZE 3 4
  • GSDMC 5

External Ids for GSDMC Gene

Previous HGNC Symbols for GSDMC Gene

  • MLZE

Previous GeneCards Identifiers for GSDMC Gene

  • GC08M130830
  • GC08M126079
  • GC08M129748

Summaries for GSDMC Gene

GeneCards Summary for GSDMC Gene

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

UniProtKB/Swiss-Prot Summary for GSDMC Gene

  • The N-terminal moiety promotes pyroptosis. May be acting by homooligomerizing within the membrane and forming pores (PubMed:27281216). The physiological relevance of this observation is unknown (Probable).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GSDMC Gene

Genomics for GSDMC Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GSDMC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J129785 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 605.5 +0.3 286 3.1 FOXA1 CEBPA CEBPB JUN PKNOX1 JUND NFIC EP300 KLF9 RFX5 GSDMC piR-34822-323
GH08J129752 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 614.9 +33.7 33669 2.7 PKNOX1 SP1 NFE2 FOXA2 CEBPB ZNF316 NR2C2 MAFK TRIM24 JUND GSDMC lnc-FAM49B-3 piR-34822-323
GH08J129706 Enhancer 1.2 Ensembl ENCODE dbSUPER 37.1 +77.5 77523 6 RFX1 JUND MTA2 PKNOX1 ZNF24 MTA1 NR2C1 REST DPF2 SOX6 GSDMC ENSG00000285108 CCDC26 LINC00976 LINC00977 ENSG00000253926
GH08J129694 Enhancer 1.1 Ensembl ENCODE dbSUPER 17.1 +90.0 89985 4.3 ZNF512 LEF1 IKZF1 CTCF PKNOX1 REST RAD21 BRD9 DPF2 EP300 GSDMC LINC00976 LINC00977 CCDC26 ENSG00000285108 ENSG00000253926
GH08J129937 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 6.1 -152.6 -152646 3.8 RNF2 SP1 GATAD2A CTCF HNRNPL TEAD4 PRDM10 TFE3 IKZF1 KDM1A CYRIB ENSG00000253720 GSDMC RF00017-7327 lnc-ASAP1-6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GSDMC on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GSDMC

Top Transcription factor binding sites by QIAGEN in the GSDMC gene promoter:
  • AML1a
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-1
  • HNF-1A
  • HNF-4alpha1
  • HNF-4alpha2
  • Pax-4a

Genomic Locations for GSDMC Gene

Genomic Locations for GSDMC Gene
chr8:129,705,903-129,786,624
(GRCh38/hg38)
Size:
80,722 bases
Orientation:
Minus strand
chr8:130,760,442-130,799,134
(GRCh37/hg19)
Size:
38,693 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:
    • The N-terminal moiety forms homooligomer; disulfide-linked. May form an 16-mer complex. Oligomerization occurs in the presence of membranes.

neXtProt entry for GSDMC Gene

Post-translational modifications for GSDMC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GSDMC Gene

Domains & Families for GSDMC Gene

Gene Families for GSDMC Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for GSDMC Gene

Suggested Antigen Peptide Sequences for GSDMC Gene

GenScript: Design optimal peptide antigens:
  • Melanoma-derived leucine zipper-containing extranuclear factor (GSDMC_HUMAN)

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

Function for GSDMC Gene

Molecular function for GSDMC Gene

UniProtKB/Swiss-Prot Function:
The N-terminal moiety promotes pyroptosis. May be acting by homooligomerizing within the membrane and forming pores (PubMed:27281216). The physiological relevance of this observation is unknown (Probable).

Phenotypes From GWAS Catalog for GSDMC Gene

Gene Ontology (GO) - Molecular Function for GSDMC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding IBA 21873635
GO:0003674 molecular_function ND --
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IBA 21873635
GO:0070273 phosphatidylinositol-4-phosphate binding IBA 21873635
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GSDMC

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, cytosol. Cell membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GSDMC gene
Compartment Confidence
mitochondrion 5
plasma membrane 4
cytoskeleton 4
cytosol 4
nucleus 2
extracellular 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GSDMC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 11223543
GO:0005739 mitochondrion IDA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GSDMC: view

Pathways & Interactions for GSDMC Gene

PathCards logo

SuperPathways for GSDMC Gene

No Data Available

Interacting Proteins for GSDMC Gene

STRING Interaction Network Preview (showing top 3 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000276708 Q9BYG8-GSDMC_HUMAN for GSDMC Gene via STRING IID

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 --
GO:0042742 defense response to bacterium IBA 21873635
GO:0070269 pyroptosis IBA 21873635
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

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GSDMC

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

No ASD Table

Relevant External Links for GSDMC Gene

GeneLoc Exon Structure for
GSDMC

Expression for GSDMC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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).

Evidence on tissue expression from TISSUES for GSDMC Gene

  • Skin(4.5)
genes like me logo Genes that share expression patterns with GSDMC: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GSDMC Gene

Orthologs for GSDMC Gene

This gene was present in the common ancestor of chordates.

Orthologs for GSDMC Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GSDMC 30 31
  • 99.48 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC609825 30
  • 72.93 (n)
GSDMC 31
  • 54 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia LOC508492 30
  • 69.91 (n)
GSDMC 31
  • 51 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gsdmc 30
  • 67.46 (n)
Mouse
(Mus musculus)
Mammalia Gsdmc 30 17 31
  • 66.37 (n)
OneToMany
Gsdmc2 17 31
  • 46 (a)
OneToMany
Gsdmc3 17 31
  • 46 (a)
OneToMany
Gsdmc4 17 31
  • 45 (a)
OneToMany
Gsdmcl2 31
  • 30 (a)
OneToMany
Gsdmcl1 31
  • 30 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 40 (a)
OneToMany
-- 31
  • 37 (a)
OneToMany
-- 31
  • 36 (a)
OneToMany
-- 31
  • 35 (a)
OneToMany
-- 31
  • 33 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 38 (a)
OneToMany
Chicken
(Gallus gallus)
Aves GSDMA 31
  • 22 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 20 (a)
OneToMany
Species where no ortholog for GSDMC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for GSDMC: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GSDMC Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
713508 Benign: not provided 129,752,783(-) C/T SYNONYMOUS_VARIANT
716979 Benign: not provided 129,777,428(-) C/T MISSENSE_VARIANT
778401 Benign: not provided 129,750,078(-) A/G SYNONYMOUS_VARIANT
780779 Benign: not provided 129,765,749(-) C/T MISSENSE_VARIANT
rs10090835 - p.Pro23Ser

Additional dbSNP identifiers (rs#s) for GSDMC Gene

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)

Additional Variant Information for GSDMC Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GSDMC Gene

Additional Disease Information for 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
  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
  3. Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. (PMID: 19270707) Birnbaum S … Mangold E (Nature genetics 2009) 3 41
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  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 (Japanese journal of cancer research : Gann 2001) 3 4

Products for GSDMC Gene

Sources for GSDMC Gene