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    LOC114803473 ALPK2 eExon liver enhancer [ Homo sapiens (human) ]

    Gene ID: 114803473, updated on 17-Sep-2024

    Summary

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    Gene symbol
    LOC114803473
    Gene description
    ALPK2 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 ALPK2 (alpha kinase 2) 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. 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]
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    Genomic context

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    See LOC114803473 in Genome Data Viewer
    Location:
    18q
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (58579547..58580094)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (58780706..58781253)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (56246779..56247326)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene MIR122 host gene Neighboring gene microRNA 3591 Neighboring gene microRNA 122 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:56160423-56160924 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:56160925-56161424 Neighboring gene alpha kinase 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:56178733-56179504 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:56179505-56180274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13388 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13389 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13390 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:56202574-56203773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13395 Neighboring gene uncharacterized LOC105372145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13397 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:56248863-56249363 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:56251884-56252518 Neighboring gene small nucleolar RNA, H/ACA box 108 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:56278707-56279577 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:56296340-56296882 Neighboring gene ribosomal protein L9 pseudogene 31

    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. 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

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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

    • enhancer exon of ALPK2

    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_064649.1 

      Range
      101..648
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      58579547..58580094
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      58780706..58781253
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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