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LOC128772256 melanoma risk locus-associated MPRA allelic enhancer 2:202153225 [ Homo sapiens (human) ]

Gene ID: 128772256, updated on 10-Oct-2023

Summary

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Gene symbol
LOC128772256
Gene description
melanoma risk locus-associated MPRA allelic enhancer 2:202153225
Gene type
biological region
Feature type(s)
regulatory: enhancer, 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 genomic sequence includes a genetic variant, rs700635, that is in strong linkage disequilibrium with a melanoma risk locus identified at 2q33.1 in genome-wide association studies (GWASs), and for which the reference allele has a risk effect. This region was validated as a functional enhancer by massively parallel reporter assays (MPRAs) in C283T melanocytes, where differences in transcriptional activity were observed between the reference and alternative rs700635 alleles. [provided by RefSeq, Mar 2023]
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Genomic context

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See LOC128772256 in Genome Data Viewer
Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (201288430..201288574)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (201769088..201769232)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene caspase 10 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:202084159-202084703 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16982 Neighboring gene MT-ND4L pseudogene 13 Neighboring gene MT-ND4 pseudogene 23 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16984 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16985 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16986 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 2:202122995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16989 Neighboring gene caspase 8 Neighboring gene flagellum associated containing coiled-coil domains 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:202184683-202185184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:202185185-202185684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16990 Neighboring gene trafficking kinesin protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:202289002-202289502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:202289503-202290003 Neighboring gene SCYL2 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:202315536-202316390 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12232 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:202329405-202329904 Neighboring gene STE20 related adaptor beta

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. Massively parallel reporter assays and variant scoring identified functional variants and target genes for melanoma loci and highlighted cell-type specificity. Long E, et al. Am J Hum Genet, 2022 Dec 1. PMID 36423637, Free PMC Article
  2. Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility. Landi MT, et al. Nat Genet, 2020 May. PMID 32341527, 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

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_149747.1 

    Range
    101..245
    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
    201288430..201288574
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    201769088..201769232
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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