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LOC111089947 GSDMB 5' regulatory region [ Homo sapiens (human) ]

Gene ID: 111089947, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111089947
Gene description
GSDMB 5' regulatory region
Gene type
biological region
Feature type(s)
mobile_element
regulatory: enhancer, promoter, transcriptional_cis_regulatory_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This region contains two alternate promoters and a gastric cell enhancer of the gasdermin B (GSDMB) gene. One of these promoters is derived from sequence related to endogenous retrovirus long terminal repeat (LTR). [provided by RefSeq, Sep 2017]
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Genomic context

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Location:
chromosome: 17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (39916194..39919065)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (40779912..40782783)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (38072447..38075318)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene IKAROS family zinc finger 3 Neighboring gene ribosomal protein L39 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12111 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12116 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:38023509-38023724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12117 Neighboring gene zona pellucida binding protein 2 Neighboring gene gasdermin B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38079584-38080370 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:38080371-38081156 Neighboring gene uncharacterized LOC124903999 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38083108-38083718 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38083719-38084330 Neighboring gene ORMDL sphingolipid biosynthesis regulator 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12119 Neighboring gene leucine rich repeat containing 3C

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. A GSDMB enhancer-driven HSV thymidine kinase-expressing vector for controlling occult peritoneal dissemination of gastric cancer cells. Saeki N, et al. BMC Cancer, 2015 May 29. PMID 26016667, Free PMC Article
  2. Alu-derived cis-element regulates tumorigenesis-dependent gastric expression of GASDERMIN B (GSDMB). Komiyama H, et al. Genes Genet Syst, 2010 Feb. PMID 20410667
  3. Transcriptional regulation of GSDML gene by antisense-oriented HERV-H LTR element. Huh JW, et al. Arch Virol, 2008. PMID 18478180
  4. Transcriptional control of the HERV-H LTR element of the GSDML gene in human tissues and cancer cells. Sin HS, et al. Arch Virol, 2006 Oct. PMID 16625320
  5. Endogenous retroviral LTRs as promoters for human genes: a critical assessment. Cohen CJ, et al. Gene, 2009 Dec 15. PMID 19577618

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

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.

Genomic

  1. NG_055539.1 

    Range
    101..2972
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    39916194..39919065
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    40779912..40782783
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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