U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC114803477 MTMR12 eExon liver enhancer [ Homo sapiens (human) ]

Gene ID: 114803477, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC114803477
Gene description
MTMR12 eExon liver enhancer
Gene type
biological region
Feature type(s)
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 region, which overlaps a protein-coding exon of the MTMR12 (myotubularin related protein 12) gene, was predicted to be an exonic enhancer (eExon) based on an enhancer-associated chromatin signature (H3K4me1, H3K27ac and p300) in liver. It was validated as a functional enhancer by reporter assays in HepG2 cells and mouse liver. This eExon was found to be associated with the FOXA1, FOXA2, HNF4A and HNF4G transcription factors by ChIP assays in human liver cells. [provided by RefSeq, Apr 2019]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
5p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (32233578..32234049)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (32347262..32347733)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (32233684..32234155)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:32125750-32126949 Neighboring gene golgi phosphoprotein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15953 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15954 Neighboring gene Sharpr-MPRA regulatory region 2864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:32231740-32232285 Neighboring gene ribosomal protein L27 pseudogene 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:32232286-32232830 Neighboring gene RNA, U6 small nuclear 1079, pseudogene Neighboring gene myotubularin related protein 12 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22438 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22439 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22443 Neighboring gene RNA, U6 small nuclear 378, pseudogene

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation. Birnbaum RY, et al. PLoS Genet, 2014 Oct. PMID 25340400, Free PMC Article
  2. Exonic enhancers: proceed with caution in exome and genome sequencing studies. Ahituv N. Genome Med, 2016 Feb 8. PMID 26856702, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Other Names

  • enhancer exon of MTMR12

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_064653.1 

    Range
    101..572
    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    32233578..32234049
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    32347262..32347733
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases