About Enhancer

Enhancer ID: E_02_0891
Species: human
Position : chr10:43568986-43571244
Biosample name:
Experiment class : Low throughput
Enhancer type: Enhancer
Disease: Hirschsprung disease
Pubmed ID:  25267720
Enhancer experiment: RT-PCR,Luciferase Reporter Assay
Enhancer experiment description: To determine the probable function of SRY on the transactivation of RET by NKX2-1 and PAX3, we had exam_x0002_ined its effects in a reporter system with a luciferase gene directed by a 3.7 kb promoter (23531 to +196) of the human RET gene(27), harboring both distal and proximal enhancers.

About Target gene

Target gene : RET(CDHF12,CDHR16,HSCR1,MEN2A,MEN2B,MTC1,PTC-ELE1),RET(CDHF12,CDHR16,HSCR1,MEN2A,MEN2B,MTC1,PTC-ELE1),RET(CDHF12,CDHR16,HSCR1,MEN2A,MEN2B,MTC1,PTC-ELE1),RET(CDHF12,CDHR16,HSCR1,MEN2A,MEN2B,MTC1,PTC-ELE1)
Strong evidence: --
Less strong evidence: Luciferase Reporter Assay
Target gene experiment description: However, when either SOX10 or PAX3 was co-transfected with NKX2-1, significant exacerbations of the RET1.5-luciferase activities were observed (Fig. 2D), suggesting potential interactions and collaborations between these transcription factors and NKX2-1 on regulation of RET gene.;However, when either SOX10 or PAX3 was co-transfected with NKX2-1, significant exacerbations of the RET1.5-luciferase activities were observed (Fig. 2D), suggesting potential interactions and collaborations between these transcription factors and NKX2-1 on regulation of RET gene.;However, when either SOX10 or PAX3 was co-transfected with NKX2-1, significant exacerbations of the RET1.5-luciferase activities were observed (Fig. 2D), suggesting potential interactions and collaborations between these transcription factors and NKX2-1 on regulation of RET gene.;However, when either SOX10 or PAX3 was co-transfected with NKX2-1, significant exacerbations of the RET1.5-luciferase activities were observed (Fig. 2D), suggesting potential interactions and collaborations between these transcription factors and NKX2-1 on regulation of RET gene.

About TF

TF name : PAX3(CDHS,HUP2,WS1,WS3)NKX2-1(BCH,BHC,NK-2,NKX2.1,NKX2A,NMTC1,T/EBP,TEBP,TITF1,TTF-1,TTF1)PAX3(CDHS,HUP2,WS1,WS3)NKX2-1(BCH,BHC,NK-2,NKX2.1,NKX2A,NMTC1,T/EBP,TEBP,TITF1,TTF-1,TTF1)PAX3(CDHS,HUP2,WS1,WS3)NKX2-1(BCH,BHC,NK-2,NKX2.1,NKX2A,NMTC1,T/EBP,TEBP,TITF1,TTF-1,TTF1)PAX3(CDHS,HUP2,WS1,WS3)NKX2-1(BCH,BHC,NK-2,NKX2.1,NKX2A,NMTC1,T/EBP,TEBP,TITF1,TTF-1,TTF1)
TF experiment: Luciferase Reporter Assay,GST Pull-down Assay
TF experiment description: SOX10 and SRY competitive interactions with NKX2-1and PAX3 demonstrated by GST pull-down assays,Transfection with either the pM-NKX2-1 or pM-PAX3 expression vectors with the UAS-luciferase reporter showed that the GAL4-BD was indeed capable bringing these two transcription factors to the UAS site, thereby transactivating the UAS-luciferase reporter in the transfected Neuro-2A cells. ;SOX10 and SRY competitive interactions with NKX2-1and PAX3 demonstrated by GST pull-down assays,Transfection with either the pM-NKX2-1 or pM-PAX3 expression vectors with the UAS-luciferase reporter showed that the GAL4-BD was indeed capable bringing these two transcription factors to the UAS site, thereby transactivating the UAS-luciferase reporter in the transfected Neuro-2A cells. ;SOX10 and SRY competitive interactions with NKX2-1and PAX3 demonstrated by GST pull-down assays,Transfection with either the pM-NKX2-1 or pM-PAX3 expression vectors with the UAS-luciferase reporter showed that the GAL4-BD was indeed capable bringing these two transcription factors to the UAS site, thereby transactivating the UAS-luciferase reporter in the transfected Neuro-2A cells. ;SOX10 and SRY competitive interactions with NKX2-1and PAX3 demonstrated by GST pull-down assays,Transfection with either the pM-NKX2-1 or pM-PAX3 expression vectors with the UAS-luciferase reporter showed that the GAL4-BD was indeed capable bringing these two transcription factors to the UAS site, thereby transactivating the UAS-luciferase reporter in the transfected Neuro-2A cells.

About Function

Enhancer function : --
Enhancer function experiment: --
Enhancer function
experiment description:
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About SNP

SNP ID: --

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