LOC109433677 BMP4 promoter region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC109433677
Gene description: BMP4 promoter region
Gene type: biological region
Feature type(s): protein_bind
regulatory: promoter, silencer
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This region encompasses multiple alternative promoters of the bone morphogenetic protein 4 gene. These promoters are stimulated by binding of GLI family zinc finger proteins and NK2 homeobox 1. Activity of this region is downregulated by tumor necrosis factor, which may prevent association of Sp1 transcription factor to discrete recognition sites. The most proximal promoter may be regulated through competition between Sry-box 2, which represses activity, and long non-coding RNA maternally expressed 3. This locus also includes four accessible chromatin subregions that were validated as silencers based on their ability to repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
Orthologs: mouse all
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Genomic context

Location:: chromosome: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (53953395..53958769)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (48161620..48166996)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (54420113..54425487)

Chromosome 14 - NC_000014.9 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

ATAC-STARR-seq lymphoblastoid silent region 5757
ATAC-STARR-seq lymphoblastoid silent region 5758
ATAC-STARR-seq lymphoblastoid silent region 5759
ATAC-STARR-seq lymphoblastoid silent region 5760

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.