Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

ADD to My Gene Set

Comment on Gene

View All Comments on Gene

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	HIST1H2AC	NO	yeast 2-hybrid	16169070
TFAP2B	MYC	NO	in vitro;in vivo	7729426
TFAP2B	VPS11	NO	yeast 2-hybrid	16169070
TFAP2B	YEATS4	NO	in vitro;in vivo;yeast 2-hybrid	16698963
TFAP2B	SYT4	NO	in vivo	7993622

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

View in gBrowse

Region: chr6:50818723..50847613 View in gBrowse