ADHDgene Database

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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	HNF1B
Previous Symbol	TCF2
Symbol Alias	LFB3, VHNF1, HNF1beta, MODY5
Approved Name	HNF1 homeobox B
Previous Name	transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor
Location	17q12
Position	chr17:36046434-36105237, -
External Links	HGNC: 11630 Entrez Gene: 6928 Ensembl: ENSG00000108753 UCSC: uc002hok.3
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 3)

ID	Location	Size	Band	Type	Inheritance
CNV_Elia[2010]_191	chr17:31889664-33323543 (NCBI Build 35 (hg17))	1774728	17q12	Deletion (hemizygous)	Paternal
CNV_Williams[2010]_7	chr17:31964475-33297438 (NCBI Build 36.1 (hg18))	1278621	17q12	Gain	Paternal
CNV_Williams[2010]_8	chr17:31979521-33318471 (NCBI Build 36.1 (hg18))	1276993	17q12	Loss

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 37)

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

GO terms by database search (count: 37)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0072181	mesonephric duct formation	Biological Process		1
GO:0072095	regulation of branch elongation involved in ureteric bud branching	Biological Process		1
GO:0001714	endodermal cell fate specification	Biological Process		1
GO:0001822	kidney development	Biological Process	IMP[16801329]	16
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	Biological Process		78
GO:0031018	endocrine pancreas development	Biological Process	IMP[16801329]	7
GO:0030902	hindbrain development	Biological Process		3
GO:0039020	pronephric nephron tubule development	Biological Process	IGI[15355349]	1
GO:0035565	regulation of pronephros size	Biological Process	IMP[15355349]	1
GO:0009952	anterior/posterior pattern specification	Biological Process		26
GO:0009749	response to glucose stimulus	Biological Process		10
GO:0030111	regulation of Wnt receptor signaling pathway	Biological Process		2
GO:0030073	insulin secretion	Biological Process		7
GO:0005634	nucleus	Cellular Component		770
GO:0005515	protein binding	Molecular Function		910
GO:0005730	nucleolus	Cellular Component		243
GO:0005667	transcription factor complex	Cellular Component		51
GO:0003677	DNA binding	Molecular Function	IDA[1677179]	220
GO:0001826	inner cell mass cell differentiation	Biological Process		1
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	Molecular Function		15
GO:0003700	sequence-specific DNA binding transcription factor activity	Molecular Function	IDA[15509593]	132
GO:0050673	epithelial cell proliferation	Biological Process		5
GO:0060261	positive regulation of transcription initiation from RNA polymerase II promoter	Biological Process	IDA[15355349]	1
GO:0060677	ureteric bud elongation	Biological Process		1
GO:0061017	hepatoblast differentiation	Biological Process		1
GO:0048557	embryonic digestive tract morphogenesis	Biological Process		7
GO:0048754	branching morphogenesis of a tube	Biological Process		6
GO:0048793	pronephros development	Biological Process	IMP[15355349]	2
GO:0048806	genitalia development	Biological Process	IMP[16801329]	1
GO:0044212	transcription regulatory region DNA binding	Molecular Function		23
GO:0045893	positive regulation of transcription, DNA-dependent	Biological Process		80
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	Biological Process		131
GO:0046982	protein heterodimerization activity	Molecular Function		68
GO:0042663	regulation of endodermal cell fate specification	Biological Process		1
GO:0042803	protein homodimerization activity	Molecular Function	IPI[1677179]	113
GO:0043066	negative regulation of apoptotic process	Biological Process		77
GO:0043565	sequence-specific DNA binding	Molecular Function		72

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04950	Maturity onset diabetes of the young	3	About 2-5% of type II diabetic patients suffer from a monoge...... About 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MODY). More...

Genes shared at least 5 GO terms with HNF1B (count: 90)

Gene Symbol	Pathway Count	Pathway List
TFAP2A	11	kidney development; negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; nucleolus; transcription regulatory region DNA binding; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; protein homodimerization activity; negative regulation of apoptotic process; sequence-specific DNA binding;
RELA	11	nucleus; protein binding; transcription factor complex; DNA binding; RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; sequence-specific DNA binding transcription factor activity; transcription regulatory region DNA binding; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; negative regulation of apoptotic process; sequence-specific DNA binding;
FOXC2	10	negative regulation of transcription from RNA polymerase II promoter; nucleus; transcription factor complex; RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; sequence-specific DNA binding transcription factor activity; transcription regulatory region DNA binding; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; negative regulation of apoptotic process; sequence-specific DNA binding;
FOXF1	10	negative regulation of transcription from RNA polymerase II promoter; nucleus; transcription factor complex; DNA binding; RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; embryonic digestive tract morphogenesis; transcription regulatory region DNA binding; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding;
FOXE1	9	negative regulation of transcription from RNA polymerase II promoter; nucleus; transcription factor complex; DNA binding; RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding;
GATA6	9	negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; transcription factor complex; RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; sequence-specific DNA binding transcription factor activity; transcription regulatory region DNA binding; positive regulation of transcription from RNA polymerase II promoter; negative regulation of apoptotic process;
HES1	9	negative regulation of transcription from RNA polymerase II promoter; endocrine pancreas development; nucleus; protein binding; DNA binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; protein homodimerization activity; sequence-specific DNA binding;
MTA2	9	negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; nucleolus; transcription factor complex; sequence-specific DNA binding transcription factor activity; transcription regulatory region DNA binding; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding;
VEGFA	8	kidney development; negative regulation of transcription from RNA polymerase II promoter; protein binding; branching morphogenesis of a tube; positive regulation of transcription from RNA polymerase II promoter; protein heterodimerization activity; protein homodimerization activity; negative regulation of apoptotic process;
KDM1A	8	negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; transcription factor complex; sequence-specific DNA binding transcription factor activity; transcription regulatory region DNA binding; positive regulation of transcription from RNA polymerase II promoter; negative regulation of apoptotic process;
SREBF1	8	negative regulation of transcription from RNA polymerase II promoter; response to glucose stimulus; nucleus; protein binding; DNA binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding;
FOXG1	8	hindbrain development; nucleus; protein binding; transcription factor complex; DNA binding; RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding;
TBX1	8	anterior/posterior pattern specification; nucleus; DNA binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; protein homodimerization activity; sequence-specific DNA binding;
ETS1	8	nucleus; protein binding; transcription factor complex; DNA binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding;
FOXP1	8	nucleus; nucleolus; transcription factor complex; RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; protein heterodimerization activity; protein homodimerization activity; sequence-specific DNA binding;
LHX1	7	kidney development; anterior/posterior pattern specification; nucleus; sequence-specific DNA binding transcription factor activity; pronephros development; positive regulation of transcription, DNA-dependent; sequence-specific DNA binding;
HOXA2	7	negative regulation of transcription from RNA polymerase II promoter; anterior/posterior pattern specification; nucleus; nucleolus; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding;
IKZF1	7	negative regulation of transcription from RNA polymerase II promoter; nucleus; DNA binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; protein heterodimerization activity; sequence-specific DNA binding;
KAT5	7	negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; nucleolus; transcription factor complex; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
MED1	7	negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; nucleolus; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; negative regulation of apoptotic process;
MEN1	7	negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; nucleolus; transcription regulatory region DNA binding; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding;
NCOR1	7	negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; transcription factor complex; sequence-specific DNA binding transcription factor activity; transcription regulatory region DNA binding; sequence-specific DNA binding;
RBPJ	7	negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; nucleolus; DNA binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter;
HOXA5	7	anterior/posterior pattern specification; nucleus; protein binding; DNA binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding;
HOXB1	7	anterior/posterior pattern specification; nucleus; nucleolus; DNA binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding;
FOXL1	7	regulation of Wnt receptor signaling pathway; nucleus; transcription factor complex; DNA binding; RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; sequence-specific DNA binding transcription factor activity; sequence-specific DNA binding;
FGF10	7	nucleus; epithelial cell proliferation; embryonic digestive tract morphogenesis; branching morphogenesis of a tube; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; negative regulation of apoptotic process;
FOXD4	7	nucleus; nucleolus; transcription factor complex; RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding;
HINFP	7	nucleus; protein binding; nucleolus; DNA binding; sequence-specific DNA binding transcription factor activity; transcription regulatory region DNA binding; positive regulation of transcription, DNA-dependent;
MLL	7	nucleus; protein binding; sequence-specific DNA binding transcription factor activity; transcription regulatory region DNA binding; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; protein homodimerization activity;
POU2F3	7	nucleus; protein binding; nucleolus; transcription factor complex; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding;
FOXP2	7	transcription factor complex; DNA binding; RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; sequence-specific DNA binding transcription factor activity; protein heterodimerization activity; protein homodimerization activity; sequence-specific DNA binding;
DRAP1	6	negative regulation of transcription from RNA polymerase II promoter; nucleus; DNA binding; sequence-specific DNA binding transcription factor activity; protein heterodimerization activity; sequence-specific DNA binding;
HEY2	6	negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding;
HOXA7	6	negative regulation of transcription from RNA polymerase II promoter; anterior/posterior pattern specification; nucleus; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding;
ID2	6	negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; nucleolus; embryonic digestive tract morphogenesis; positive regulation of transcription, DNA-dependent;
IRF7	6	negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; DNA binding; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
KLF4	6	negative regulation of transcription from RNA polymerase II promoter; transcription factor complex; sequence-specific DNA binding transcription factor activity; transcription regulatory region DNA binding; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
MEIS2	6	negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding;
MYB	6	negative regulation of transcription from RNA polymerase II promoter; protein binding; DNA binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
SPI1	6	negative regulation of transcription from RNA polymerase II promoter; protein binding; RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
TCF25	6	negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; nucleolus; DNA binding; sequence-specific DNA binding transcription factor activity;
HOXA1	6	anterior/posterior pattern specification; nucleus; protein binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding;
HOXA11	6	anterior/posterior pattern specification; nucleolus; transcription factor complex; sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent; sequence-specific DNA binding;
HOXA9	6	anterior/posterior pattern specification; nucleus; protein binding; transcription factor complex; sequence-specific DNA binding transcription factor activity; sequence-specific DNA binding;
ZBTB16	6	anterior/posterior pattern specification; nucleus; protein binding; DNA binding; positive regulation of transcription, DNA-dependent; protein homodimerization activity;
AATF	6	nucleus; protein binding; nucleolus; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; negative regulation of apoptotic process;
HMGA1	6	nucleus; protein binding; transcription factor complex; DNA binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent;
HOXA13	6	nucleus; DNA binding; sequence-specific DNA binding transcription factor activity; transcription regulatory region DNA binding; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding;
NCOA6	6	nucleus; protein binding; nucleolus; transcription factor complex; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
NR5A1	6	nucleus; protein binding; DNA binding; RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding;
TAF13	6	nucleus; protein binding; nucleolus; DNA binding; sequence-specific DNA binding transcription factor activity; protein heterodimerization activity;
TFEB	6	nucleus; transcription factor complex; sequence-specific DNA binding transcription factor activity; transcription regulatory region DNA binding; positive regulation of transcription from RNA polymerase II promoter; protein heterodimerization activity;
XRCC5	6	nucleus; protein binding; nucleolus; DNA binding; transcription regulatory region DNA binding; negative regulation of apoptotic process;
YAP1	6	nucleus; protein binding; transcription factor complex; transcription regulatory region DNA binding; positive regulation of transcription from RNA polymerase II promoter; negative regulation of apoptotic process;
APC	5	kidney development; anterior/posterior pattern specification; nucleus; protein binding; negative regulation of apoptotic process;
TCF21	5	kidney development; negative regulation of transcription from RNA polymerase II promoter; nucleus; embryonic digestive tract morphogenesis; positive regulation of transcription from RNA polymerase II promoter;
TGFBR1	5	kidney development; anterior/posterior pattern specification; protein binding; positive regulation of transcription, DNA-dependent; negative regulation of apoptotic process;
BARX2	5	negative regulation of transcription from RNA polymerase II promoter; transcription factor complex; DNA binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter;
GFI1B	5	negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; transcription factor complex; DNA binding;
IRF8	5	negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent;
MAF	5	negative regulation of transcription from RNA polymerase II promoter; nucleus; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding;
NCOR2	5	negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; nucleolus; DNA binding;
NR6A1	5	negative regulation of transcription from RNA polymerase II promoter; transcription factor complex; DNA binding; protein homodimerization activity; sequence-specific DNA binding;
NRIP1	5	negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
SNW1	5	negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; nucleolus; positive regulation of transcription from RNA polymerase II promoter;
STRN3	5	negative regulation of transcription from RNA polymerase II promoter; nucleus; protein binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter;
ONECUT2	5	endocrine pancreas development; nucleus; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding;
RFX6	5	endocrine pancreas development; nucleus; protein binding; transcription regulatory region DNA binding; positive regulation of transcription, DNA-dependent;
HOXA10	5	anterior/posterior pattern specification; protein binding; transcription factor complex; sequence-specific DNA binding transcription factor activity; sequence-specific DNA binding;
HOXA3	5	anterior/posterior pattern specification; nucleus; nucleolus; sequence-specific DNA binding transcription factor activity; sequence-specific DNA binding;
ATXN1	5	nucleus; protein binding; nucleolus; DNA binding; positive regulation of transcription from RNA polymerase II promoter;
BARD1	5	nucleus; protein binding; protein heterodimerization activity; protein homodimerization activity; negative regulation of apoptotic process;
BNIP3	5	nucleus; protein binding; protein heterodimerization activity; protein homodimerization activity; negative regulation of apoptotic process;
BSX	5	nucleus; transcription factor complex; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding;
CLOCK	5	nucleus; nucleolus; transcription factor complex; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter;
CREB5	5	nucleus; protein binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent; sequence-specific DNA binding;
CREBZF	5	nucleus; protein binding; DNA binding; sequence-specific DNA binding transcription factor activity; sequence-specific DNA binding;
ESRRA	5	nucleus; protein binding; DNA binding; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding;
GSK3B	5	nucleus; protein binding; nucleolus; positive regulation of transcription from RNA polymerase II promoter; negative regulation of apoptotic process;
HSF2	5	nucleus; nucleolus; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; protein homodimerization activity;
LHX2	5	nucleus; sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding;
MAPK1	5	nucleus; protein binding; nucleolus; DNA binding; positive regulation of transcription, DNA-dependent;
NR4A2	5	nucleus; protein binding; positive regulation of transcription from RNA polymerase II promoter; protein heterodimerization activity; sequence-specific DNA binding;
PGR	5	nucleus; protein binding; nucleolus; DNA binding; sequence-specific DNA binding;
RBM14	5	nucleus; protein binding; nucleolus; transcription factor complex; positive regulation of transcription from RNA polymerase II promoter;
TAF4B	5	nucleus; nucleolus; DNA binding; sequence-specific DNA binding transcription factor activity; protein heterodimerization activity;
THRAP3	5	nucleus; protein binding; nucleolus; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
ZNF24	5	nucleus; protein binding; DNA binding; sequence-specific DNA binding transcription factor activity; sequence-specific DNA binding;
E2F5	5	protein binding; transcription factor complex; DNA binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter;

Genes shared at least 2 KEGG pathways with HNF1B (count: 0)

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Region: chr17:36046434..36105237 View in gBrowse