LOC115253417 intestine-critical region regulatory element [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC115253417
Gene description: intestine-critical region regulatory element
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 element, which is located in the intestine-critical region (ICR) of chromosome 16, overlaps the 5' flanking region of the PERCC1 gene. It functions as an enhancer that activates expression of a minimal Hsp68 promoter in the stomach, pancreas and duodenum of E11.5-E14.5 transgenic mice. Deletions that encompass this element are associated with congenital diarrhea, suggesting that this element is active in the developing digestive system. Similar to the human phenotype, deletion of the orthologous mouse region results in disrupted intestinal function. [provided by RefSeq, Jul 2019]
Orthologs: mouse all
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Genomic context

Location:: 16p

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (1429874..1430991)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (1444536..1445653)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (1479875..1480992)

Chromosome 16 - NC_000016.10 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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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.