LOC111721708 skeletal muscle cis-regulatory module in CCND3 intron [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC111721708
Gene description: skeletal muscle cis-regulatory module in CCND3 intron
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 region, which is located in an intron of the CCND3 (cyclin D3) gene on chromosome 6, represents a cis-regulatory module (CRM) that functions as an enhancer in skeletal muscle. This element was identified as a muscle-specific CRM by the Logistic Regression Analysis, MSCAN and ClusterBuster prediction methods. A subregion was shown to drive selective reporter gene expression in differentiated C2C12 myotubes. Another subregion was also validated as an enhancer by the ChIP-STARR-seq massively parallel reporter assay in primed human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. [provided by RefSeq, Jan 2023]
Orthologs: mouse all
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Genomic context

Location:: 6p

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (42030147..42031151)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (41858391..41859395)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (41997885..41998889)

Chromosome 6 - NC_000006.12 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

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

CCND3 intronic myotube-selective CRM
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41997885-41998646

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.