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LOC108281133 ITGB6-RBMS1 intergenic CAGE-defined low expression enhancer [ Homo sapiens (human) ]

Gene ID: 108281133, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108281133
Gene description
ITGB6-RBMS1 intergenic CAGE-defined low expression enhancer
Gene type
biological region
Feature type(s)
misc_feature: CAGE_cluster
regulatory: enhancer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic element is located in the intergenic region between the ITGB6 (integrin subunit beta 6) and RBMS1 (RNA binding motif single stranded interacting protein 1) genes. It was defined as a low expression actively transcribed enhancer based on the presence of balanced bidirectional capped transcripts by cap analysis of gene expression (CAGE). It was validated as a functional enhancer by reporter assays in HeLa cells. [provided by RefSeq, Jul 2016]
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Genomic context

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Location:
2q24.2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (160227255..160227790)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (160684735..160685270)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (161083766..161084301)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene phospholipase A2 receptor 1 Neighboring gene uncharacterized LOC105373717 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:160911725-160912406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16697 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:160982362-160982960 Neighboring gene integrin subunit beta 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:161037195-161037767 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:161037768-161038339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16699 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16701 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_53984 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:161126614-161127223 Neighboring gene long intergenic non-protein coding RNA 2478 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54032 Neighboring gene RNA binding motif single stranded interacting protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12048 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12049 Neighboring gene microRNA 4785

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. An atlas of active enhancers across human cell types and tissues. Andersson R, et al. Nature, 2014 Mar 27. PMID 24670763, Free PMC Article

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)

General gene information

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Other Names

  • ITGB6-RBMS1 interval low CAGE FANTOM5 enhancer

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_051084.1 

    Range
    101..636
    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    160227255..160227790
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    160684735..160685270
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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