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GSDMC gasdermin C [ Homo sapiens (human) ]

Gene ID: 56169, updated on 24-Nov-2020

Summary

Official Symbol
GSDMCprovided by HGNC
Official Full Name
gasdermin Cprovided by HGNC
Primary source
HGNC:HGNC:7151
See related
Ensembl:ENSG00000147697 MIM:608384
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
Expression
Biased expression in skin (RPKM 9.5), spleen (RPKM 4.6) and 1 other tissue See more
Orthologs

Genomic context

See GSDMC in Genome Data Viewer
Location:
8q24.21
Exon count:
21
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (129705903..129786624, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (130760442..130799134, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene CCDC26 long non-coding RNA Neighboring gene microRNA 3686 Neighboring gene VISTA enhancer hs1709 Neighboring gene mitochondrial translational release factor 1 like pseudogene 2 Neighboring gene ribosomal protein L15 pseudogene 12 Neighboring gene CYFIP related Rac1 interactor B Neighboring gene RNA, U7 small nuclear 181 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A novel common variant in DCST2 is associated with length in early life and height in adulthood.
GeneReviews: Not available
Genome-wide association study of retinopathy in individuals without diabetes.
GeneReviews: Not available
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available
Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.
GeneReviews: Not available
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.
GeneReviews: Not available
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available
Multiple loci are associated with white blood cell phenotypes.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_031415.3NP_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
    Q9BYG8
    Related
    ENSP00000276708.4, ENST00000276708.9
    Conserved Domains (1) summary
    pfam04598
    Location:4482
    Gasdermin; Gasdermin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    129705903..129786624 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517161.2XP_011515463.1  gasdermin-C isoform X3

    Conserved Domains (1) summary
    pfam04598
    Location:4429
    Gasdermin; Gasdermin family
  2. XM_011517159.2XP_011515461.1  gasdermin-C isoform X2

    Conserved Domains (1) summary
    pfam04598
    Location:4463
    Gasdermin; Gasdermin family
  3. XM_011517158.2XP_011515460.1  gasdermin-C isoform X1

    Conserved Domains (1) summary
    pfam04598
    Location:4473
    Gasdermin; Gasdermin family
  4. XM_011517162.2XP_011515464.1  gasdermin-C isoform X4

    Conserved Domains (1) summary
    pfam04598
    Location:4431
    Gasdermin; Gasdermin family
  5. XM_011517163.3XP_011515465.1  gasdermin-C isoform X5

    Conserved Domains (1) summary
    pfam04598
    Location:1396
    Gasdermin; Gasdermin family
  6. XM_017013645.1XP_016869134.1  gasdermin-C isoform X6

    Conserved Domains (1) summary
    pfam04598
    Location:20333
    Gasdermin; Gasdermin family
  7. XM_011517166.3XP_011515468.1  gasdermin-C isoform X8

    Conserved Domains (1) summary
    pfam04598
    Location:26236
    Gasdermin; Gasdermin family
  8. XM_011517165.1XP_011515467.1  gasdermin-C isoform X7

    Related
    ENST00000522273.5
    Conserved Domains (1) summary
    pfam04598
    Location:35245
    Gasdermin; Gasdermin family
  9. XM_011517168.2XP_011515470.1  gasdermin-C isoform X10

    Conserved Domains (1) summary
    pfam04598
    Location:4250
    Gasdermin; Gasdermin family
  10. XM_011517167.2XP_011515469.1  gasdermin-C isoform X9

    Conserved Domains (1) summary
    pfam04598
    Location:4252
    Gasdermin; Gasdermin family

RNA

  1. XR_928340.2 RNA Sequence

  2. XR_928339.2 RNA Sequence

  3. XR_928341.2 RNA Sequence

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_019805494.1 Reference GRCh38.p13 PATCHES

    Range
    32548..70997 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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