GSDMC gasdermin C [Homo sapiens (human)] - Gene

Summary

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: Enables wide pore channel activity. Involved in pyroptotic inflammatory response. Located in cytoplasm. Is active in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
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

Location:: 8q24.21

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (129705435..129786624, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (130831881..130912619, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (130760442..130798870, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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
enables wide pore channel activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in defense response to bacterium	IBA Inferred from Biological aspect of Ancestor more info
involved_in programmed cell death	IEA Inferred from Electronic Annotation more info
involved_in pyroptotic inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in pyroptotic inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation 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
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
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)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

129705435..129786624 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A2R8Y5J4

Conserved Domains (1) summary

pfam04598
Location:4 → 429

Gasdermin; Gasdermin family
XM_011517159.3 → XP_011515461.1 gasdermin-C isoform X2

UniProtKB/TrEMBL

A0A2R8Y5J4

Conserved Domains (1) summary

pfam04598
Location:4 → 463

Gasdermin; Gasdermin family
XM_011517158.3 → XP_011515460.1 gasdermin-C isoform X1

UniProtKB/TrEMBL

A0A2R8Y5J4

Conserved Domains (1) summary

pfam04598
Location:4 → 473

Gasdermin; Gasdermin family
XM_011517162.3 → XP_011515464.1 gasdermin-C isoform X4

UniProtKB/TrEMBL

A0A2R8Y5J4

Conserved Domains (1) summary

pfam04598
Location:4 → 431

Gasdermin; Gasdermin family
XM_011517163.3 → XP_011515465.1 gasdermin-C isoform X5

UniProtKB/TrEMBL

A0A2R8Y5J4

Conserved Domains (1) summary

pfam04598
Location:1 → 396

Gasdermin; Gasdermin family
XM_017013645.2 → XP_016869134.1 gasdermin-C isoform X6

Conserved Domains (1) summary

pfam04598
Location:20 → 333

Gasdermin; Gasdermin family
XM_011517166.4 → XP_011515468.1 gasdermin-C isoform X8

UniProtKB/TrEMBL

Q9H1C8

Conserved Domains (1) summary

pfam04598
Location:26 → 236

Gasdermin; Gasdermin family
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
XM_011517168.3 → XP_011515470.1 gasdermin-C isoform X10

Conserved Domains (1) summary

pfam04598
Location:4 → 250

Gasdermin; Gasdermin family
XM_011517167.3 → XP_011515469.1 gasdermin-C isoform X9

Conserved Domains (1) summary

pfam04598
Location:4 → 252

Gasdermin; Gasdermin family