LOC108511947 ALAS2 intronic erythroid enhancer [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC108511947
Gene description: ALAS2 intronic erythroid enhancer
Gene type: biological region
Feature type(s): protein_bind
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 a downstream intron of the ALAS2 (5'-aminolevulinate synthase 2) gene on chromosome X. It was validated as a functional enhancer by reporter assays in both human K562 erythroleukemia and murine erythroleukemia (MEL) cells. It contains conserved binding motifs for the GATA1 and SP1 transcription factors, which are important for enhancer activity. [provided by RefSeq, Aug 2016]
Orthologs: mouse all
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Genomic context

See LOC108511947 in Genome Data Viewer

Location:: Xp11.21

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (55015016..55015476)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (54308142..54308602)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (55041449..55041909)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

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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

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General gene information

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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.