MCS+9.7 RET intron 1 enhancer [Homo sapiens (human)] - Gene

Summary

Gene symbol: MCS+9.7
Gene description: RET intron 1 enhancer
Gene type: biological region
Feature type(s): misc_feature: conserved_region
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
Also known as: Enh1; Enh2; RET+3; IVS+9494
Summary: This region represents a conserved sequence in the first intron of the ret proto-oncogene (RET). This sequence is bound by SRY box 10, homeobox B5, and the NXF-ARNT2 heterodimer and functions as a transcriptional enhancer in the excretory system and central and peripheral nervous systems. Common polymorphisms in this sequence (rs2435357 and rs2506004) can affect binding of transcription factors and may result in decreased expression of RET. Polymorphic alleles are associated with increased risk of Hirschsprung disease (HSCR), and may have a complex affect depending on sex and genetic or structural variation at other loci. [provided by RefSeq, Nov 2015]
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Genomic context

Location:: chromosome: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (43086364..43087263)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (43963870..43964769)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (43581812..43582711)

Chromosome 10 - NC_000010.11 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

What's a GeneRIF?

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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

multispecies conserved sequence located 9.7 kb from the ATG of RET

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.