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	TAF4B
Previous Symbol	TAF2C2
Symbol Alias	TAFII105
Approved Name	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa
Previous Name	TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD
Name Alias	TATA box binding protein (TBP)-associated factor 4B
Location	18q11.1
Position	chr18:23806409-23971649, +
External Links	HGNC: 11538 Entrez Gene: 6875 Ensembl: ENSG00000141384 UCSC: uc002kvu.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)
18q11.2-12.3	chr18:19000000-43500000	1 (1/0/0)

Gene related GO terms (count: 16)

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

GO terms by database search (count: 16)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0051059	NF-kappaB binding	Molecular Function	IPI[10849440]	7
GO:0006368	transcription elongation from RNA polymerase II promoter	Biological Process		10
GO:0010467	gene expression	Biological Process		140
GO:0016032	viral reproduction	Biological Process		57
GO:0046982	protein heterodimerization activity	Molecular Function		68
GO:0005737	cytoplasm	Cellular Component		690
GO:0005730	nucleolus	Cellular Component		243
GO:0005669	transcription factor TFIID complex	Cellular Component		3
GO:0005654	nucleoplasm	Cellular Component		183
GO:0006367	transcription initiation from RNA polymerase II promoter	Biological Process		42
GO:0006366	transcription from RNA polymerase II promoter	Biological Process		62
GO:0006355	regulation of transcription, DNA-dependent	Biological Process		158
GO:0006352	DNA-dependent transcription, initiation	Biological Process		8
GO:0005634	nucleus	Cellular Component		770
GO:0003700	sequence-specific DNA binding transcription factor activity	Molecular Function		132
GO:0003677	DNA binding	Molecular Function	IDA[15601843]	220

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa03022	Basal transcription factors	6
hsa05016	Huntington's disease	28	Huntington disease (HD) is an autosomal-dominant neurodegene...... Huntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality changes and dementia. HD is caused by a CAG repeat expansion in the IT15gene, which results in a long stretch of polyglutamine close to the amino-terminus of the HD protein huntingtin (Htt). Mutant Htt (mHtt) has effects both in the cytoplasm and in the nucleus. In the cytoplasm, full-length mHtt can interfere with BDNF vesicular transport on microtubules. This mutant protein also may lead to abnormal endocytosis and secretion in neurons, because normal Htt form a complex with the proteins Hip1, clathrin and AP2 that are involved in endocytosis. In addition, mHtt affects Ca2+ signaling by sensitizing InsP3R1 to activation by InsP3, stimulating NMDAR activity, and destabilizing mitochondrial Ca2+ handling. The mHtt translocates to the nucleus, where it forms intranuclear inclusions. Nuclear toxicity is believed to be caused by interference with gene transcription, leading to loss of transcription of neuroprotective molecules such as BDNF. While mHtt binds to p53 and upregulates levels of nuclear p53 as well as p53 transcriptional activity. Augmented p53 mediates mitochondrial dysfunction. More...

Genes shared at least 5 GO terms with TAF4B (count: 67)

Gene Symbol	Pathway Count	Pathway List
TAF13	13	transcription elongation from RNA polymerase II promoter; gene expression; viral reproduction; protein heterodimerization activity; nucleolus; transcription factor TFIID complex; nucleoplasm; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; DNA-dependent transcription, initiation; nucleus; sequence-specific DNA binding transcription factor activity; DNA binding;
TAF10	11	transcription elongation from RNA polymerase II promoter; gene expression; viral reproduction; cytoplasm; transcription factor TFIID complex; nucleoplasm; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; DNA-dependent transcription, initiation; nucleus; sequence-specific DNA binding transcription factor activity;
SSRP1	10	transcription elongation from RNA polymerase II promoter; gene expression; viral reproduction; cytoplasm; nucleolus; nucleoplasm; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; nucleus; DNA binding;
GTF2H3	8	transcription elongation from RNA polymerase II promoter; gene expression; viral reproduction; nucleoplasm; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity;
RBPJ	8	gene expression; cytoplasm; nucleolus; nucleoplasm; transcription initiation from RNA polymerase II promoter; nucleus; sequence-specific DNA binding transcription factor activity; DNA binding;
NCBP1	7	transcription elongation from RNA polymerase II promoter; gene expression; viral reproduction; nucleoplasm; transcription from RNA polymerase II promoter; nucleus; DNA binding;
POLR2G	7	transcription elongation from RNA polymerase II promoter; gene expression; viral reproduction; nucleoplasm; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; nucleus;
NCOR1	7	gene expression; cytoplasm; nucleoplasm; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; nucleus; sequence-specific DNA binding transcription factor activity;
PGR	7	gene expression; cytoplasm; nucleolus; nucleoplasm; transcription initiation from RNA polymerase II promoter; nucleus; DNA binding;
ZNF263	7	viral reproduction; cytoplasm; nucleolus; regulation of transcription, DNA-dependent; nucleus; sequence-specific DNA binding transcription factor activity; DNA binding;
RELA	6	NF-kappaB binding; cytoplasm; nucleoplasm; nucleus; sequence-specific DNA binding transcription factor activity; DNA binding;
DHX9	6	gene expression; cytoplasm; nucleolus; nucleoplasm; nucleus; DNA binding;
E2F5	6	gene expression; cytoplasm; nucleoplasm; transcription initiation from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; DNA binding;
FUS	6	gene expression; cytoplasm; nucleolus; nucleoplasm; nucleus; DNA binding;
MED4	6	gene expression; nucleolus; nucleoplasm; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; nucleus;
MEN1	6	gene expression; cytoplasm; nucleolus; nucleoplasm; transcription initiation from RNA polymerase II promoter; nucleus;
NCOR2	6	gene expression; nucleolus; nucleoplasm; transcription initiation from RNA polymerase II promoter; nucleus; DNA binding;
NR4A2	6	gene expression; protein heterodimerization activity; cytoplasm; nucleoplasm; transcription initiation from RNA polymerase II promoter; nucleus;
SMC1A	6	gene expression; protein heterodimerization activity; cytoplasm; nucleolus; nucleoplasm; nucleus;
HMGA1	6	viral reproduction; nucleoplasm; regulation of transcription, DNA-dependent; nucleus; sequence-specific DNA binding transcription factor activity; DNA binding;
XRCC5	6	viral reproduction; cytoplasm; nucleolus; nucleoplasm; nucleus; DNA binding;
POLA2	6	protein heterodimerization activity; cytoplasm; nucleolus; nucleoplasm; nucleus; DNA binding;
SUPT3H	6	protein heterodimerization activity; nucleolus; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; DNA-dependent transcription, initiation; nucleus;
HOXB1	6	cytoplasm; nucleolus; regulation of transcription, DNA-dependent; nucleus; sequence-specific DNA binding transcription factor activity; DNA binding;
RREB1	6	cytoplasm; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; nucleus; sequence-specific DNA binding transcription factor activity; DNA binding;
HINFP	6	nucleolus; nucleoplasm; regulation of transcription, DNA-dependent; nucleus; sequence-specific DNA binding transcription factor activity; DNA binding;
RPS3	5	NF-kappaB binding; gene expression; viral reproduction; cytoplasm; nucleus;
TCEB1	5	transcription elongation from RNA polymerase II promoter; gene expression; viral reproduction; nucleoplasm; transcription from RNA polymerase II promoter;
DGCR8	5	gene expression; cytoplasm; nucleolus; nucleoplasm; nucleus;
EFTUD2	5	gene expression; cytoplasm; nucleolus; nucleoplasm; nucleus;
ESRRA	5	gene expression; nucleoplasm; transcription initiation from RNA polymerase II promoter; nucleus; DNA binding;
HNRNPA1	5	gene expression; cytoplasm; nucleolus; nucleoplasm; nucleus;
HNRNPA2B1	5	gene expression; cytoplasm; nucleolus; nucleoplasm; nucleus;
HNRNPH1	5	gene expression; cytoplasm; nucleolus; nucleoplasm; nucleus;
MAML1	5	gene expression; nucleolus; nucleoplasm; transcription initiation from RNA polymerase II promoter; nucleus;
MED1	5	gene expression; nucleolus; nucleoplasm; transcription initiation from RNA polymerase II promoter; nucleus;
MED16	5	gene expression; nucleoplasm; transcription initiation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; nucleus;
MED24	5	gene expression; nucleoplasm; transcription initiation from RNA polymerase II promoter; regulation of transcription, DNA-dependent; nucleus;
NEDD4L	5	gene expression; cytoplasm; nucleoplasm; transcription initiation from RNA polymerase II promoter; nucleus;
NR4A3	5	gene expression; nucleoplasm; transcription initiation from RNA polymerase II promoter; nucleus; DNA binding;
NR5A1	5	gene expression; nucleoplasm; transcription initiation from RNA polymerase II promoter; nucleus; DNA binding;
PSMC3	5	gene expression; viral reproduction; cytoplasm; nucleoplasm; nucleus;
SNW1	5	gene expression; nucleolus; nucleoplasm; transcription initiation from RNA polymerase II promoter; nucleus;
TAF1C	5	gene expression; nucleoplasm; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; DNA binding;
U2AF1	5	gene expression; nucleolus; nucleoplasm; transcription from RNA polymerase II promoter; nucleus;
XPO1	5	gene expression; viral reproduction; cytoplasm; nucleolus; nucleoplasm;
YAP1	5	gene expression; cytoplasm; nucleoplasm; transcription initiation from RNA polymerase II promoter; nucleus;
RCC1	5	viral reproduction; cytoplasm; nucleolus; nucleoplasm; nucleus;
ZNF202	5	viral reproduction; transcription from RNA polymerase II promoter; nucleus; sequence-specific DNA binding transcription factor activity; DNA binding;
ZNF215	5	viral reproduction; regulation of transcription, DNA-dependent; nucleus; sequence-specific DNA binding transcription factor activity; DNA binding;
ZNF396	5	viral reproduction; cytoplasm; nucleus; sequence-specific DNA binding transcription factor activity; DNA binding;
ZNF397	5	viral reproduction; cytoplasm; nucleus; sequence-specific DNA binding transcription factor activity; DNA binding;
HNF1B	5	protein heterodimerization activity; nucleolus; nucleus; sequence-specific DNA binding transcription factor activity; DNA binding;
IKZF1	5	protein heterodimerization activity; cytoplasm; nucleus; sequence-specific DNA binding transcription factor activity; DNA binding;
TFEB	5	protein heterodimerization activity; cytoplasm; regulation of transcription, DNA-dependent; nucleus; sequence-specific DNA binding transcription factor activity;
ATXN1	5	cytoplasm; nucleolus; nucleoplasm; nucleus; DNA binding;
GRHL1	5	cytoplasm; nucleoplasm; regulation of transcription, DNA-dependent; nucleus; DNA binding;
HSF2	5	cytoplasm; nucleolus; transcription from RNA polymerase II promoter; nucleus; sequence-specific DNA binding transcription factor activity;
IRF7	5	cytoplasm; nucleoplasm; transcription from RNA polymerase II promoter; nucleus; DNA binding;
IRF9	5	cytoplasm; nucleoplasm; transcription from RNA polymerase II promoter; nucleus; sequence-specific DNA binding transcription factor activity;
MAPK1	5	cytoplasm; nucleolus; nucleoplasm; nucleus; DNA binding;
PTTG1	5	cytoplasm; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; nucleus; sequence-specific DNA binding transcription factor activity;
TCF25	5	cytoplasm; nucleolus; nucleus; sequence-specific DNA binding transcription factor activity; DNA binding;
ZNF367	5	cytoplasm; nucleolus; nucleus; sequence-specific DNA binding transcription factor activity; DNA binding;
ZNF77	5	cytoplasm; nucleolus; regulation of transcription, DNA-dependent; nucleus; DNA binding;
NCOA6	5	nucleolus; nucleoplasm; transcription initiation from RNA polymerase II promoter; DNA-dependent transcription, initiation; nucleus;
NFRKB	5	nucleolus; transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; nucleus; DNA binding;

Genes shared at least 2 KEGG pathways with TAF4B (count: 1)

Gene Symbol	Pathway Count	Pathway List
TBPL1	2	Basal transcription factors; Huntington's disease;

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Region: chr18:23806409..23971649 View in gBrowse