ADHDgene Database

Hot Results

Quick Search

Keyword:
Type:

Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	NIPBL
Symbol Alias	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2
Approved Name	Nipped-B homolog (Drosophila)
Name Alias	sister chromatid cohesion 2 homolog (yeast)
Location	5p13.2
Position	chr5:36876861-37066515, +
External Links	HGNC: 28862 Entrez Gene: 25836 Ensembl: ENSG00000164190 UCSC: uc003jkl.3
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
5p13	chr5:28900000-42500000	3 (1/1/1)

Gene related GO terms (count: 41)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 41)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0042826	histone deacetylase binding	Molecular Function	IPI[18854353]	10
GO:0042634	regulation of hair cycle	Biological Process	IMP[15146186]	2
GO:0045778	positive regulation of ossification	Biological Process		2
GO:0045444	fat cell differentiation	Biological Process		9
GO:0045995	regulation of embryonic development	Biological Process	IMP[19242925]	3
GO:0045892	negative regulation of transcription, DNA-dependent	Biological Process	IDA[18854353]	64
GO:0048557	embryonic digestive tract morphogenesis	Biological Process	IMP[19242925]	7
GO:0047485	protein N-terminus binding	Molecular Function	IPI[16802858]	23
GO:0048592	eye morphogenesis	Biological Process	IMP[8291537]	1
GO:0048589	developmental growth	Biological Process	IMP[15146186]	2
GO:0048703	embryonic viscerocranium morphogenesis	Biological Process		5
GO:0048638	regulation of developmental growth	Biological Process	IMP[19242925]	1
GO:0060325	face morphogenesis	Biological Process	IMP[19242925]	5
GO:0050890	cognition	Biological Process	IMP[15146186]	6
GO:0061038	uterus morphogenesis	Biological Process	IMP[19242925]	1
GO:0061010	gall bladder development	Biological Process	IMP[19242925]	1
GO:0070087	chromo shadow domain binding	Molecular Function	IPI[15882967]	1
GO:0071481	cellular response to X-ray	Biological Process	IMP[17468178]	1
GO:0003007	heart morphogenesis	Biological Process	IMP[8291537]	5
GO:0001656	metanephros development	Biological Process	NAS[15146185]	7
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	Biological Process	IDA[18854353]	78
GO:0005634	nucleus	Cellular Component	IDA[16802858]	770
GO:0005515	protein binding	Molecular Function	IPI[16682347]	910
GO:0003682	chromatin binding	Molecular Function		48
GO:0003151	outflow tract morphogenesis	Biological Process	IMP[19242925]	12
GO:0007420	brain development	Biological Process	IMP[8291537]	33
GO:0007605	sensory perception of sound	Biological Process	IMP[15146186]	31
GO:0006974	response to DNA damage stimulus	Biological Process	IMP[17468178]	37
GO:0007064	mitotic sister chromatid cohesion	Biological Process	IMP[16100726]	3
GO:0031065	positive regulation of histone deacetylation	Biological Process	IDA[18854353]	4
GO:0032116	SMC loading complex	Cellular Component	IDA[16682347]	1
GO:0008022	protein C-terminus binding	Molecular Function	IPI[17577209]	32
GO:0019827	stem cell maintenance	Biological Process		12
GO:0035115	embryonic forelimb morphogenesis	Biological Process	IMP[19242925]	4
GO:0035136	forelimb morphogenesis	Biological Process	IMP[15146186]	4
GO:0034088	maintenance of mitotic sister chromatid cohesion	Biological Process	IMP[16682347]	1
GO:0034613	cellular protein localization	Biological Process	IMP[17468178]	9
GO:0040018	positive regulation of multicellular organism growth	Biological Process		6
GO:0042471	ear morphogenesis	Biological Process	IMP[8291537]	3
GO:0035261	external genitalia morphogenesis	Biological Process	IMP[19242925]	1
GO:0036033	mediator complex binding	Molecular Function		4

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with NIPBL (count: 18)

Gene Symbol	Pathway Count	Pathway List
TFAP2A	9	negative regulation of transcription, DNA-dependent; face morphogenesis; negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; chromatin binding; outflow tract morphogenesis; sensory perception of sound; embryonic forelimb morphogenesis;
MEN1	8	negative regulation of transcription, DNA-dependent; protein N-terminus binding; negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; chromatin binding; brain development; response to DNA damage stimulus;
MED1	7	fat cell differentiation; negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; chromatin binding; brain development; mediator complex binding;
TBX1	7	embryonic viscerocranium morphogenesis; face morphogenesis; heart morphogenesis; nucleus; outflow tract morphogenesis; sensory perception of sound; ear morphogenesis;
HES1	6	histone deacetylase binding; negative regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; outflow tract morphogenesis;
HEY2	6	histone deacetylase binding; negative regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; outflow tract morphogenesis;
NCOR1	6	histone deacetylase binding; negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; chromatin binding; positive regulation of histone deacetylation;
NCOR2	6	histone deacetylase binding; protein N-terminus binding; negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; chromatin binding;
ID2	6	negative regulation of transcription, DNA-dependent; embryonic digestive tract morphogenesis; metanephros development; negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding;
SMC1A	6	nucleus; protein binding; chromatin binding; mitotic sister chromatid cohesion; stem cell maintenance; mediator complex binding;
ZBTB16	5	positive regulation of ossification; negative regulation of transcription, DNA-dependent; nucleus; protein binding; forelimb morphogenesis;
GATA6	5	negative regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; chromatin binding;
KDM1A	5	negative regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; chromatin binding;
RBPJ	5	negative regulation of transcription, DNA-dependent; negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; outflow tract morphogenesis;
RELA	5	negative regulation of transcription, DNA-dependent; protein N-terminus binding; nucleus; protein binding; chromatin binding;
SREBF1	5	negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; chromatin binding; positive regulation of histone deacetylation;
NCOA6	5	nucleus; protein binding; chromatin binding; brain development; response to DNA damage stimulus;
SMC3	5	nucleus; protein binding; chromatin binding; stem cell maintenance; mediator complex binding;

Genes shared at least 2 KEGG pathways with NIPBL (count: 0)

View in gBrowse

Region: chr5:36876861..37066515 View in gBrowse