LOC108449887 hs1251 and hs1262 enhancers downstream of SHOX2 [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC108449887
Gene description: hs1251 and hs1262 enhancers downstream of SHOX2
Gene type: biological region
Feature type(s): misc_feature: conserved_region
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 approximately 36 kb from the 3' end of the SHOX2 (short stature homeobox 2) gene on chromosome 3. It includes two sub-regions, hs1251 and hs1262, that function as enhancers based on activation of a Hsp68 promoter coupled to a LacZ reporter gene in embryonic neural tissue and/or limb of transgenic mice. This region is orthologous to the mouse limb hindbrain (LHB) control region, which is necessary for Shox2 gene expression in mouse embryo limb and hindbrain. An ultraconserved sub-region of the hs1251 human enhancer is also homologous to part of the conserved non-coding element 5 (CNE5) neural enhancer found downstream of the paralogous SHOX (short stature homeobox) gene in the pseudoautosomal region of chromosomes X and Y, and it thus represents a duplicated conserved non-coding element (dCNE). [provided by RefSeq, Jun 2019]
Orthologs: mouse all
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Genomic context

Location:: 3q

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (158057953..158063431)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (160832670..160838148)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (157775742..157781220)

Chromosome 3 - NC_000003.12 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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Other Names

VISTA enhancer hs1251
VISTA enhancer hs1262

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.