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    GSDMC gasdermin C [ Homo sapiens (human) ]

    Gene ID: 56169, updated on 3-Apr-2024

    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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    Location:
    8q24.21
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (129705435..129786624, complement)
    RS_2023_10 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 H3K27ac hESC enhancer GRCh37_chr8:130314706-130315206 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:130315207-130315707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27964 Neighboring gene RN7SK pseudogene 206 Neighboring gene MPRA-validated peak7173 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:130343219-130344418 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27966 Neighboring gene CCDC26 long non-coding RNA Neighboring gene Sharpr-MPRA regulatory region 4396 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:130526802-130527734 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:130527735-130528668 Neighboring gene microRNA 3686 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27969 Neighboring gene CRISPRi-validated CCDC26 and MYC e5 enhancer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:130598970-130600169 Neighboring gene MPRA-validated peak7175 silencer Neighboring gene VISTA enhancer hs1709 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19540 Neighboring gene CRISPRi-validated CCDC26, MYC and PVT1 e6 enhancer Neighboring gene CRISPRi-validated CCDC26, MYC and PVT1 e7 enhancer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:130719165-130720364 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:130722337-130723536 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:130725004-130725177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27970 Neighboring gene mitochondrial translational release factor 1 like pseudogene 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:130844878-130845690 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:130845691-130846502 Neighboring gene uncharacterized LOC124900265 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Pyroptosis-Related Signature Composed of GSDMC Predicts Prognosis and Contributes to Growth and Metastasis of Hepatocellular Carcinoma.
      Title: The Pyroptosis-Related Signature Composed of GSDMC Predicts Prognosis and Contributes to Growth and Metastasis of Hepatocellular Carcinoma.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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 phosphatidylinositol-4,5-bisphosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-4-phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylserine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in defense response to bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in pyroptosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
      Q5XKF3, Q6P494, Q9BYG8
      UniProtKB/TrEMBL
      A0A2R8Y5J4
      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_10

    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

      UniProtKB/TrEMBL
      A0A2R8Y5J4
      Conserved Domains (1) summary
      pfam04598
      Location:4 → 429
      Gasdermin; Gasdermin family

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

      UniProtKB/TrEMBL
      A0A2R8Y5J4
      Conserved Domains (1) summary
      pfam04598
      Location:4 → 463
      Gasdermin; Gasdermin family

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

      UniProtKB/TrEMBL
      A0A2R8Y5J4
      Conserved Domains (1) summary
      pfam04598
      Location:4 → 473
      Gasdermin; Gasdermin family

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

      UniProtKB/TrEMBL
      A0A2R8Y5J4
      Conserved Domains (1) summary
      pfam04598
      Location:4 → 431
      Gasdermin; Gasdermin family

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

      UniProtKB/TrEMBL
      A0A2R8Y5J4
      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

      UniProtKB/TrEMBL
      Q9H1C8
      Conserved Domains (1) summary
      pfam04598
      Location:26 → 236
      Gasdermin; Gasdermin family

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

      UniProtKB/TrEMBL
      Q9H1C8
      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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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