About Enhancer

Enhancer ID: E_01_0007
Species: human
Position : chr5:173229371-173231371
Biosample name:
Experiment class : High+Lowthroughput
Enhancer type: Enhancer
Disease: Scleroderma associated pulmonary hypertensio
Pubmed ID:  29342503
Enhancer experiment: Western blot,qPCR
Enhancer experiment description: NKX2-5 is a homeobox transcription factor required for the formation of the heart and vessels during development, with significant postnatal downregulation and reactivation in disease states characterised by vascular remodelling.

About Target gene

Target gene : --
Strong evidence: qRT-PCR,qPCR,ChIP,3C
Less strong evidence: RNA-Seq
Target gene experiment description: NKX2-5 is a homeobox transcription factor required for the formation of the heart and vessels during development, with significant postnatal downregulation and reactivation in disease states characterised by vascular remodelling.;TEAD1 is a member of TEA/ATTS domain family transcription regulators with distinct and important roles in VSMC differentiation and in cardiovascular disease

About TF

TF name : NKX2-5(Csx,Nkx-2.5,Nkx2.5,tinman)TEAD1
TF experiment: Western blot,qPCR
TF experiment description: NKX2-5 is a homeobox transcription factor required for the formation of the heart and vessels during development, with significant postnatal downregulation and reactivation in disease states characterised by vascular remodelling.;TEAD1 is a member of TEA/ATTS domain family transcription regulators with distinct and important roles in VSMC differentiation and in cardiovascular disease

About Function

Enhancer function : NKX2-5 is a homeobox transcription factor required for the formation of the heart and vessels during development, with significant postnatal downregulation and reactivation in disease states characterised by vascular remodelling.
Enhancer function experiment: Immunohistochemical staining
Enhancer function
experiment description:
NKX2-5 is a homeobox transcription factor required for the formation of the heart and vessels during development, with significant postnatal downregulation and reactivation in disease states characterised by vascular remodelling.

About SNP

SNP ID: rs3095870

Upstream Pathway Annotation of TF

GeneName Pathway Name Source Gene Number
NKX2-5 Physiological factors reactome 12
NKX2-5 Regulation of nuclear SMAD2/3 signaling pid 82
NKX2-5 YAP1- and WWTR1 (TAZ)-stimulated gene expression reactome 29
NKX2-5 Hs_Heart_Development_WP1591_90186 wikipathways 28
TEAD1 PPARA activates gene expression reactome 113
TEAD1 YAP1- and WWTR1 (TAZ)-stimulated gene expression reactome 29
TEAD1 Hs_Mesodermal_Commitment_Pathway_WP2857_87780 wikipathways 47

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