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GSDMC gasdermin C [ Homo sapiens (human) ]

Gene ID: 56169, updated on 4-May-2015
Official Symbol
GSDMCprovided by HGNC
Official Full Name
gasdermin Cprovided by HGNC
Primary source
HGNC:HGNC:7151
See related
Ensembl:ENSG00000147697; HPRD:12222; MIM:608384; Vega:OTTHUMG00000164851
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
Orthologs
See GSDMC in MapViewer
Location:
8q24.21
Exon count:
22
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 8 NC_000008.11 (129705903..129786888, 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 long intergenic non-protein coding RNA 977 Neighboring gene CCDC26 long non-coding RNA Neighboring gene microRNA 3686 Neighboring gene mitochondrial translational release factor 1-like pseudogene 2 Neighboring gene family with sequence similarity 49, member B Neighboring gene ribosomal protein L15 pseudogene 12 Neighboring gene microRNA 5194

NHGRI GWAS Catalog

Description
Genome-wide association study of retinopathy in individuals without diabetes.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.
NHGRI GWA Catalog
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.
NHGRI GWA Catalog
Multiple loci are associated with white blood cell phenotypes.
NHGRI GWA Catalog

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
microtubule organizing center IDA
Inferred from Direct Assay
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
Preferred Names
gasdermin-C
Names
gasdermin-C
melanoma-derived leucine zipper, extra-nuclear factor
melanoma-derived leucine zipper-containing extranuclear factor

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_031415.2NP_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, OTTHUMP00000227707, ENST00000276708, OTTHUMT00000380586
    Conserved Domains (1) summary
    pfam04598
    Location:4484
    Gasdermin; Gasdermin family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p2 Primary Assembly

    Range
    129705903..129786888
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517161.1XP_011515463.1  

    Conserved Domains (1) summary
    pfam04598
    Location:4429
    Gasdermin; Gasdermin family
  2. XM_011517160.1XP_011515462.1  

    Conserved Domains (1) summary
    pfam04598
    Location:4449
    Gasdermin; Gasdermin family
  3. XM_011517159.1XP_011515461.1  

    Conserved Domains (1) summary
    pfam04598
    Location:4465
    Gasdermin; Gasdermin family
  4. XM_011517158.1XP_011515460.1  

    Conserved Domains (1) summary
    pfam04598
    Location:4475
    Gasdermin; Gasdermin family
  5. XM_011517162.1XP_011515464.1  

    Conserved Domains (1) summary
    pfam04598
    Location:4431
    Gasdermin; Gasdermin family
  6. XM_011517163.1XP_011515465.1  

    Related
    ENSP00000482343, ENST00000619643
    Conserved Domains (1) summary
    pfam04598
    Location:1398
    Gasdermin; Gasdermin family
  7. XM_011517164.1XP_011515466.1  

    Conserved Domains (1) summary
    pfam04598
    Location:43335
    Gasdermin; Gasdermin family
  8. XM_011517166.1XP_011515468.1  

    Conserved Domains (1) summary
    pfam04598
    Location:11238
    Gasdermin; Gasdermin family
  9. XM_011517165.1XP_011515467.1  

    Conserved Domains (1) summary
    pfam04598
    Location:20247
    Gasdermin; Gasdermin family
  10. XM_011517168.1XP_011515470.1  

    Conserved Domains (1) summary
    pfam04598
    Location:4241
    Gasdermin; Gasdermin family
  11. XM_011517167.1XP_011515469.1  

    Conserved Domains (1) summary
    pfam04598
    Location:4240
    Gasdermin; Gasdermin family

RNA

  1. XR_928340.1 RNA Sequence

  2. XR_928339.1 RNA Sequence

  3. XR_928341.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    130800680..130839374
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)