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	BCL11A
Previous Symbol	EVI9
Symbol Alias	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856
Approved Name	B-cell CLL/lymphoma 11A (zinc finger protein)
Previous Name	ecotropic viral integration site 9
Location	2p16.1
Position	chr2:60451167-60553567, -1
External Links	HGNC: 13221 Entrez Gene: 53335 Ensembl: ENSG00000119866 UCSC: uc002sae.1
No. of Studies	1 (Positive: 1; Negative: 0; 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
Kajio, Y., 2014	SNP: rs243021	The BD associations exhibited nominal significance for SNPs in BCL11A (rs243021, Puncorrected=0.0031) and HMG20A (rs7178572, Puncorrected=0.0043),	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 24)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003714	transcription corepressor activity	molecular function	IEA	21
GO:0005634	nucleus	cellular component	IDA[19616629]	283

GO terms by database search (count: 22)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	IDA[19153051]	62
GO:0010976	positive regulation of neuron projection development	biological process	IDA[19616629]	10
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	ISS[19616629]	91
GO:0010977	negative regulation of neuron projection development	biological process	IDA[19616629]	4
GO:0046982	protein heterodimerization activity	molecular function	IPI[19616629]	42
GO:0042803	protein homodimerization activity	molecular function	TAS[19616629]	71
GO:0030517	negative regulation of axon extension	biological process	ISS[19616629]	2
GO:0050773	regulation of dendrite development	biological process	IMP[19616629]	2
GO:0048671	negative regulation of collateral sprouting	biological process	IMP[19616629]	2
GO:0046872	metal ion binding	molecular function	IEA	115
GO:2000171	negative regulation of dendrite development	biological process	IMP[19616629]	2
GO:0006351	transcription, DNA-templated	biological process	IEA	103
GO:0048672	positive regulation of collateral sprouting	biological process	IMP[19616629]	1
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	molecular function	IDA[19153051]	23
GO:0005515	protein binding	molecular function	IPI[25416956]	563
GO:0001078	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription	molecular function	IDA[19153051]	14
GO:0032463	negative regulation of protein homooligomerization	biological process	IC[19616629]	2
GO:0005737	cytoplasm	cellular component	IEA; ISS[19616629]	322
GO:0016925	protein sumoylation	biological process	ISS	3
GO:0030183	B cell differentiation	biological process	IEA	5
GO:0005654	nucleoplasm	cellular component	IDA	163
GO:0030217	T cell differentiation	biological process	IEA	3

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
BCL11A	NR2F2	NO	in vitro;yeast 2-hybrid	10744719
BCL11A	NR2F1	NO	in vitro;yeast 2-hybrid	10744719

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs243021	chr2:60357684 - 60357684(1)	downstream_gene_variant; upstream_gene_variant	1(1/0/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 7)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
2p16.1	chr2:54700000-61000000	1 (0/0/1)
2p16.1-q11.2	chr2:54700000-102100000	1 (1/0/0)
2p16.2-p11.2	chr2:52600000-91800000	1 (1/0/0)
2p13-16	chr2:47500000-71300000	1 (0/0/1)
2p16	chr2:47500000-61000000	1 (0/1/0)
Chr 2	chr2:0-242193529	3 (0/3/0)
2p22.2-p13.3	chr2:36300000-71300000	1 (1/0/0)

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
24196380	No association was found for SNPs in this gene for SZ.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 0)

Gene relationship with MDD

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Region: chr2:60451167..60553567 View in gBrowse