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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

  • 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).

Additional gene information for GSDMC Gene

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

Genomics for GSDMC Gene

GeneHancer (GH) Regulatory Elements for GSDMC Gene

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
GH08I129785 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 555 0.0 -5 2.1 STAT1 PKNOX1 JUN CEBPB EP300 RFX5 NFIC JUND CEBPA STAT3 GSDMC ENSG00000254317
GH08I129706 Enhancer 1.3 Ensembl ENCODE dbSUPER 37.1 +77.8 77787 6 PKNOX1 FOXA2 SIN3A ZBTB7B E2F8 ATF7 FOS DEK REST ZNF592 GSDMC PIR35436 ENSG00000254223
GH08I129694 Enhancer 1.2 Ensembl ENCODE dbSUPER 17.1 +90.2 90249 4.3 HDGF PKNOX1 NFIB NFRKB SIN3A RAD21 EGR1 FOS CREM REST GSDMC ENSG00000254223 PIR35436
GH08I129752 Enhancer 1 Ensembl ENCODE 14.9 +33.6 33616 1.5 FOXA2 PKNOX1 BACH1 ZNF316 FOS NFE2 TRIM24 MAFK NFE2L2 SMARCE1 GSDMC MTRF1LP2
GH08I129937 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 6.1 -152.4 -152382 3.8 HDGF PKNOX1 CLOCK ARID4B SIN3A ZBTB7B YY1 POLR2B E2F8 ZNF143 FAM49B ENSG00000253720 GSDMC ENSG00000254263
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GSDMC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GSDMC gene promoter:

Genomic Locations for GSDMC Gene

Genomic Locations for GSDMC Gene
chr8:129,705,903-129,786,888
(GRCh38/hg38)
Size:
80,986 bases
Orientation:
Minus strand
chr8:130,760,442-130,799,134
(GRCh37/hg19)

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

No Post-translational modifications

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

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

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: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

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
cytoskeleton 5
mitochondrion 5
cytosol 4
plasma membrane 3
nucleus 2

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:0005815 microtubule organizing center IDA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IEA --
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
GSDME
PJVK

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

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 from GTEx, Illumina, BioGPS, and CGAP 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

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).

Evidence on tissue expression from TISSUES for GSDMC Gene

  • Skin(4.3)
genes like me logo Genes that share expression patterns with GSDMC: view

Primer Products

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 33 34
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia LOC609825 33
  • 72.93 (n)
GSDMC 34
  • 54 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LOC508492 33
  • 69.91 (n)
GSDMC 34
  • 51 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gsdmc 33
  • 67.46 (n)
mouse
(Mus musculus)
Mammalia Gsdmc 33 34
  • 66.37 (n)
Gsdmc2 34
  • 46 (a)
OneToMany
Gsdmc3 34
  • 46 (a)
OneToMany
Gsdmc4 16 34
  • 45 (a)
Gsdmcl1 34
  • 30 (a)
OneToMany
Gsdmcl2 34
  • 30 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 40 (a)
OneToMany
-- 34
  • 37 (a)
OneToMany
-- 34
  • 36 (a)
OneToMany
-- 34
  • 35 (a)
OneToMany
-- 34
  • 33 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 38 (a)
OneToMany
chicken
(Gallus gallus)
Aves GSDMA 34
  • 22 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 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 Variation AA Info Type
rs1000061891 -- 129,735,664(-) C/G genic_downstream_transcript_variant, intron_variant
rs1000120967 -- 129,714,748(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000125815 -- 129,785,175(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000155664 -- 129,747,617(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000169434 -- 129,788,416(-) C/G upstream_transcript_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)

Additional Variant Information 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

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 58
  2. 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 44 58
  3. 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 58
  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 58
  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 58

Products for GSDMC Gene

Sources for GSDMC Gene

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