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GSDMC gasdermin C [ Homo sapiens (human) ]

Gene ID: 56169, updated on 21-Mar-2023

Summary

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Official Symbol
GSDMCprovided by HGNC
Official Full Name
gasdermin Cprovided by HGNC
Primary source
HGNC:HGNC:7151
See related
Ensembl:ENSG00000147697 MIM:608384; AllianceGenome:HGNC:7151
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MLZE
Summary
Predicted to enable phosphatidylinositol-4,5-bisphosphate binding activity; phosphatidylinositol-4-phosphate binding activity; and phosphatidylserine binding activity. Predicted to be involved in defense response to bacterium and pyroptosis. Predicted to act upstream of or within intestinal epithelial cell development. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in skin (RPKM 9.5), spleen (RPKM 4.6) and 1 other tissue See more
Orthologs
all
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Genomic context

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See GSDMC in Genome Data Viewer
Location:
8q24.21
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (129705435..129786624, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (130831881..130912619, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (130760442..130798870, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene CCDC26 long non-coding RNA Neighboring gene CRISPRi-validated CCDC26 and MYC e5 enhancer Neighboring gene VISTA enhancer hs1709 Neighboring gene mitochondrial translational release factor 1 like pseudogene 2 Neighboring gene small nucleolar RNA SNORA25 Neighboring gene ribosomal protein L15 pseudogene 12 Neighboring gene CYFIP related Rac1 interactor B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. System analysis based on the pyroptosis-related genes identifies GSDMC as a novel therapy target for pancreatic adenocarcinoma. Yan C, et al. J Transl Med, 2022 Oct 5. PMID 36199146, Free PMC Article
  2. High Expression of GSDMC Is Associated with Poor Survival in Kidney Clear Cell Cancer. Cui YQ, et al. Biomed Res Int, 2021. PMID 34778452, Free PMC Article
  3. Two GWAS-identified variants are associated with lumbar spinal stenosis and Gasdermin-C expression in Chinese population. Jiang H, et al. Sci Rep, 2020 Dec 3. PMID 33273635, Free PMC Article
  4. PD-L1-mediated gasdermin C expression switches apoptosis to pyroptosis in cancer cells and facilitates tumour necrosis. Hou J, et al. Nat Cell Biol, 2020 Oct. PMID 32929201, Free PMC Article
  5. Association of GSDMC polymorphisms with lumbar disc herniation among Chinese Han population. Wu J, et al. Int J Immunogenet, 2020 Dec. PMID 32333499

See all (27) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. System analysis based on the pyroptosis-related genes identifies GSDMC as a novel therapy target for pancreatic adenocarcinoma.
    Title: System analysis based on the pyroptosis-related genes identifies GSDMC as a novel therapy target for pancreatic adenocarcinoma.
  2. High Expression of GSDMC Is Associated with Poor Survival in Kidney Clear Cell Cancer.
    Title: High Expression of GSDMC Is Associated with Poor Survival in Kidney Clear Cell Cancer.
  3. Association of GSDMC polymorphisms with lumbar disc herniation among Chinese Han population.
    Title: Association of GSDMC polymorphisms with lumbar disc herniation among Chinese Han population.
  4. Two GWAS-identified variants are associated with lumbar spinal stenosis and Gasdermin-C expression in Chinese population.
    Title: Two GWAS-identified variants are associated with lumbar spinal stenosis and Gasdermin-C expression in Chinese population.
  5. PD-L1-mediated gasdermin C expression switches apoptosis to pyroptosis in cancer cells and facilitates tumour necrosis.
    Title: PD-L1-mediated gasdermin C expression switches apoptosis to pyroptosis in cancer cells and facilitates tumour necrosis.
  6. Overexpression of GSDMC is a prognostic factor for predicting a poor outcome in lung adenocarcinoma.
    Title: Overexpression of GSDMC is a prognostic factor for predicting a poor outcome in lung adenocarcinoma.
  7. These data suggested that TRPV1 may serve an important role in the induction of GSDMC expression by UV and that UVinduced GSDMC expression may be mediated via a calcium/calcineurin/NFATc1 pathway.
    Title: Ultraviolet light-induced gasdermin C expression is mediated via TRPV1/calcium/calcineurin/NFATc1 signaling.
  8. Expression of GSDMC is increased by UV irradiation in human skin keratinocytes. GSDMC induction contributes to the increase of MMP-1 expression specifically via activation of ERK and JNK pathways.
    Title: Gasdermin C is induced by ultraviolet light and contributes to MMP-1 expression via activation of ERK and JNK pathways.
  9. Gasdermin C is upregulated by inactivation of Tgfbr2 in the presence of mutated Apc, promoting colorectal cancer cell proliferation.
    Title: Gasdermin C Is Upregulated by Inactivation of Transforming Growth Factor β Receptor Type II in the Presence of Mutated Apc, Promoting Colorectal Cancer Proliferation.
  10. Study investigated the expression pattern of the GSDM family genes in the upper gastrointestinal epithelium and cancers.
    Title: Distinctive expression and function of four GSDM family genes (GSDMA-D) in normal and malignant upper gastrointestinal epithelium.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A novel common variant in DCST2 is associated with length in early life and height in adulthood.
EBI GWAS Catalog
Genome-wide association study of retinopathy in individuals without diabetes.
EBI GWAS Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog
Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.
EBI GWAS Catalog
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
EBI GWAS Catalog
Multiple loci are associated with white blood cell phenotypes.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
enables phosphatidylinositol-4,5-bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables phosphatidylinositol-4-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables phosphatidylserine binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in defense response to bacterium IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in pyroptosis IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
gasdermin-C
Names
melanoma-derived leucine zipper, extra-nuclear factor
melanoma-derived leucine zipper-containing extranuclear factor

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_031415.3 → NP_113603.1  gasdermin-C

    See identical proteins and their annotated locations for NP_113603.1

    Status: VALIDATED

    Source sequence(s)
    AB042405, BC063595, DA437012
    Consensus CDS
    CCDS6360.1
    UniProtKB/Swiss-Prot
    Q6P494, Q9BYG8
    Related
    ENSP00000276708.4, ENST00000276708.9
    Conserved Domains (1) summary
    pfam04598
    Location:4 → 482
    Gasdermin; Gasdermin family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    129705435..129786624 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517161.3 → XP_011515463.1  gasdermin-C isoform X3

    Conserved Domains (1) summary
    pfam04598
    Location:4 → 429
    Gasdermin; Gasdermin family

  2. XM_011517159.3 → XP_011515461.1  gasdermin-C isoform X2

    Conserved Domains (1) summary
    pfam04598
    Location:4 → 463
    Gasdermin; Gasdermin family

  3. XM_011517158.3 → XP_011515460.1  gasdermin-C isoform X1

    Conserved Domains (1) summary
    pfam04598
    Location:4 → 473
    Gasdermin; Gasdermin family

  4. XM_011517162.3 → XP_011515464.1  gasdermin-C isoform X4

    Conserved Domains (1) summary
    pfam04598
    Location:4 → 431
    Gasdermin; Gasdermin family

  5. XM_011517163.3 → XP_011515465.1  gasdermin-C isoform X5

    Conserved Domains (1) summary
    pfam04598
    Location:1 → 396
    Gasdermin; Gasdermin family

  6. XM_017013645.2 → XP_016869134.1  gasdermin-C isoform X6

    Conserved Domains (1) summary
    pfam04598
    Location:20 → 333
    Gasdermin; Gasdermin family

  7. XM_011517166.4 → XP_011515468.1  gasdermin-C isoform X8

    Conserved Domains (1) summary
    pfam04598
    Location:26 → 236
    Gasdermin; Gasdermin family

  8. XM_011517165.1 → XP_011515467.1  gasdermin-C isoform X7

    Related
    ENST00000522273.5
    Conserved Domains (1) summary
    pfam04598
    Location:35 → 245
    Gasdermin; Gasdermin family

  9. XM_011517168.3 → XP_011515470.1  gasdermin-C isoform X10

    Conserved Domains (1) summary
    pfam04598
    Location:4 → 250
    Gasdermin; Gasdermin family

  10. XM_011517167.3 → XP_011515469.1  gasdermin-C isoform X9

    Conserved Domains (1) summary
    pfam04598
    Location:4 → 252
    Gasdermin; Gasdermin family

RNA

  1. XR_928340.3 RNA Sequence

  2. XR_928339.3 RNA Sequence

  3. XR_928341.3 RNA Sequence

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_019805494.1 Reference GRCh38.p14 PATCHES

    Range
    31419..70997 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054332396.1 → XP_054188371.1  gasdermin-C isoform X3

  2. XM_054332395.1 → XP_054188370.1  gasdermin-C isoform X2

  3. XM_054332394.1 → XP_054188369.1  gasdermin-C isoform X1

  4. XM_054332397.1 → XP_054188372.1  gasdermin-C isoform X5

  5. XM_054332398.1 → XP_054188373.1  gasdermin-C isoform X6

  6. XM_054332400.1 → XP_054188375.1  gasdermin-C isoform X8

  7. XM_054332399.1 → XP_054188374.1  gasdermin-C isoform X7

  8. XM_054332402.1 → XP_054188377.1  gasdermin-C isoform X10

  9. XM_054332401.1 → XP_054188376.1  gasdermin-C isoform X9

RNA

  1. XR_008485764.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    130831881..130912619 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054360848.1 → XP_054216823.1  gasdermin-C isoform X3

  2. XM_054360847.1 → XP_054216822.1  gasdermin-C isoform X2

  3. XM_054360846.1 → XP_054216821.1  gasdermin-C isoform X1

  4. XM_054360849.1 → XP_054216824.1  gasdermin-C isoform X5

  5. XM_054360850.1 → XP_054216825.1  gasdermin-C isoform X6

  6. XM_054360852.1 → XP_054216827.1  gasdermin-C isoform X8

  7. XM_054360851.1 → XP_054216826.1  gasdermin-C isoform X7

  8. XM_054360854.1 → XP_054216829.1  gasdermin-C isoform X10

  9. XM_054360853.1 → XP_054216828.1  gasdermin-C isoform X9

RNA

  1. XR_008487866.1 RNA Sequence

  2. XR_008487865.1 RNA Sequence

  3. XR_008487867.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BYG8.3 GenPept UniProtKB/Swiss-Prot:Q9BYG8

Gene LinkOut

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