About Enhancer

Enhancer ID: E_02_0945
Species: mouse
Position : chr9:119469800-119469811
Biosample name:
Experiment class : Low+High throughput
Enhancer type: Enhancer
Disease: Cardiac conduction system disease
Pubmed ID:  22728936
Enhancer experiment: Luciferase Reporter Assay,ChIP-seq
Enhancer experiment description: We tested the ability of this putative enhancer to activate transcription in a TBX5-dependent manner. TBX5 dramatically upregulated enhancer-dependent luciferase reporter expression from this genomic region (chr9:119,378,051�119,379,479;NCBI build 37/mm9) in vitro (Figure 6B).

About Target gene

Target gene : Scn5a(Nav1.5,Nav1.5c,SkM1,SkM2,mH1),Scn5a(Nav1.5,Nav1.5c,SkM1,SkM2,mH1)
Strong evidence: --
Less strong evidence: Luciferase Reporter Assay
Target gene experiment description: We tested the ability of this putative enhancer to activate transcription in a TBX5-dependent manner. TBX5 dramatically upregulated enhancer-dependent luciferase reporter expression from this genomic region (chr9:119,378,051�119,379,479;NCBI build 37/mm9) in vitro (Figure 6B). ;We tested the ability of this putative enhancer to activate transcription in a TBX5-dependent manner. TBX5 dramatically upregulated enhancer-dependent luciferase reporter expression from this genomic region (chr9:119,378,051�119,379,479;NCBI build 37/mm9) in vitro (Figure 6B).

About TF

TF name : Tbx5(HOS)Tbx5(HOS)
TF experiment: ChIP-seq
TF experiment description: We bioinformatically interrogated the Scn5a locus to identify potential TBX5-responsive Enhancers using the overlap of 4 independent data sets: (a) evolutionary conservation (21);(b) ChIP-seq studies identifying TBX5 binding sites in the atrial cardiomyocyte HL-1 cell line.;We bioinformatically interrogated the Scn5a locus to identify potential TBX5-responsive Enhancers using the overlap of 4 independent data sets: (a) evolutionary conservation (21);(b) ChIP-seq studies identifying TBX5 binding sites in the atrial cardiomyocyte HL-1 cell line.

About Function

Enhancer function : TBX5-responsive Enhancer downstream of Scn5a sufficient to drive VCS expression in vivo, dependent on canonical T-box binding sites.
Enhancer function experiment: ChIP-seq
Enhancer function
experiment description:
Here, we found a direct molecular link between TBX5 and Scn5a via a TBX5-respon_x005f_x0002_sive downstream Enhancer that was sufficient to direct VCS-specif-ic gene expression. Our results identified a TBX5-Scn5a molecular network essential for function of the mature VCS.

About SNP

SNP ID: --

Upstream Pathway Annotation of TF


Enhancer associated network

The number on yellow line represents the distance between enhancer and target gene

Expression of target genes for the enhancer


Enhancer associated SNPs