Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	TFAP2B
Symbol Alias	AP2-B
Approved Name	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
Previous Name	transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)
Location	6p12
Position	chr6:50818723-50847613, 1
External Links	HGNC: 11743 Entrez Gene: 7021 Ensembl: ENSG00000008196 UCSC: uc003pag.3
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Fallin, M. D.,2005		4 SNP typed, Median D'=1, Median r<sup>2</sup> =0.12, 1 LD blocks, 0.77 block coverage, all SNP or haplotype P-value > 0.05 in BP and SZ/SZA... This gene is not suggestive to BP.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 60)

GO terms by PBA (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IC[12169688]; IDA[20607706]	283
GO:0043565	sequence-specific DNA binding	molecular function	IDA[11505339]	29
GO:0003677	DNA binding	molecular function	TAS[12072434]	83
GO:0003714	transcription corepressor activity	molecular function	IDA[7559606]	21
GO:0003700	sequence-specific DNA binding transcription factor activity	molecular function	IDA[11505339]	66

GO terms by database search (count: 55)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	biological process	ISS	5
GO:0010226	response to lithium ion	biological process	IEA	2
GO:0043027	cysteine-type endopeptidase inhibitor activity involved in apoptotic process	molecular function	ISS	1
GO:0042593	glucose homeostasis	biological process	ISS	19
GO:0035909	aorta morphogenesis	biological process	ISS	1
GO:0045893	positive regulation of transcription, DNA-templated	biological process	IDA[11505339]; IMP[16373396]	58
GO:0001106	RNA polymerase II transcription corepressor activity	molecular function	ISS	1
GO:0006006	glucose metabolic process	biological process	IMP[15940393]	10
GO:0055074	calcium ion homeostasis	biological process	ISS	4
GO:0097277	cellular urea homeostasis	biological process	ISS	1
GO:0042493	response to drug	biological process	IEA	57
GO:0006355	regulation of transcription, DNA-templated	biological process	IDA[12169688]	62
GO:0035137	hindlimb morphogenesis	biological process	ISS	1
GO:0097276	cellular creatinine homeostasis	biological process	ISS	1
GO:0046983	protein dimerization activity	molecular function	IDA[12072434]	19
GO:0045444	fat cell differentiation	biological process	IEP[16373396]	6
GO:0045892	negative regulation of transcription, DNA-templated	biological process	IDA[20607706]	43
GO:0055062	phosphate ion homeostasis	biological process	ISS	1
GO:0042803	protein homodimerization activity	molecular function	IPI[11505339]	71
GO:0005515	protein binding	molecular function	IPI[11694877]	563
GO:0072017	distal tubule development	biological process	ISS	1
GO:0043525	positive regulation of neuron apoptotic process	biological process	IDA[20607706]	11
GO:0003682	chromatin binding	molecular function	IEA	23
GO:0050796	regulation of insulin secretion	biological process	IMP[15940393]	24
GO:0046982	protein heterodimerization activity	molecular function	IPI[11505339]	42
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	molecular function	IEA	18
GO:0055078	sodium ion homeostasis	biological process	ISS	2
GO:0008285	negative regulation of cell proliferation	biological process	IDA[20607706]	41
GO:0035136	forelimb morphogenesis	biological process	ISS	2
GO:0097275	cellular ammonia homeostasis	biological process	ISS	1
GO:0001158	enhancer sequence-specific DNA binding	molecular function	IDA[16373396]	3
GO:0043524	negative regulation of neuron apoptotic process	biological process	IEA	26
GO:0010960	magnesium ion homeostasis	biological process	ISS	3
GO:0000981	sequence-specific DNA binding RNA polymerase II transcription factor activity	molecular function	IDA[7555706]	6
GO:0097070	ductus arteriosus closure	biological process	ISS	1
GO:0072210	metanephric nephron development	biological process	IEA	1
GO:0055075	potassium ion homeostasis	biological process	ISS	1
GO:0000983	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity	molecular function	ISS	1
GO:0072044	collecting duct development	biological process	ISS	1
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	IDA[7559606]	62
GO:0043066	negative regulation of apoptotic process	biological process	IDA[17525748]; ISS	46
GO:0006366	transcription from RNA polymerase II promoter	biological process	IEA	31
GO:0003713	transcription coactivator activity	molecular function	IDA[7555706]	22
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IDA[12169688]	91
GO:0000979	RNA polymerase II core promoter sequence-specific DNA binding	molecular function	IDA[7555706]	9
GO:0003091	renal water homeostasis	biological process	ISS	9
GO:0045595	regulation of cell differentiation	biological process	IDA[20607706]	1
GO:0010842	retina layer formation	biological process	IEP[20607706]	1
GO:0035810	positive regulation of urine volume	biological process	ISS	3
GO:0001105	RNA polymerase II transcription coactivator activity	molecular function	ISS	4
GO:0048485	sympathetic nervous system development	biological process	ISS	3
GO:0043588	skin development	biological process	IEA	3
GO:0008284	positive regulation of cell proliferation	biological process	IDA[17525748]	44
GO:0001822	kidney development	biological process	ISS	13
GO:0030510	regulation of BMP signaling pathway	biological process	ISS	1

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 7)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
TFAP2B	UBE2I	NO	in vivo	12072434
TFAP2B	CITED4	NO	in vitro	11744733
TFAP2B	YEATS4	NO	in vitro;in vivo;yeast 2-hybrid	16698963
TFAP2B	HIST1H2AC	NO	yeast 2-hybrid	16169070
TFAP2B	VPS11	NO	yeast 2-hybrid	16169070
TFAP2B	SYT4	NO	in vivo	7993622
TFAP2B	MYC	NO	in vitro;in vivo	7729426

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
6p12-q13	chr6:46200000-75200000	1 (0/1/0)
Chr 6	chr6:0-170805979	3 (0/3/0)
6p12.3	chr6:46200000-51800000	1 (0/1/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
16380905	This gene is not suggestive to SZ/SZA.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 2)

Reference	ID in SZGene	Result Category
12270648	403	Negative
16380905	403	Negative

Gene relationship with MDD

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Region: chr6:50818723..50847613 View in gBrowse