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	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	chr2:60678302-60780702, -
External Links	HGNC: 13221 Entrez Gene: 53335 Ensembl: ENSG00000119866 UCSC: uc002sae.1
No. of Studies	1 (significant: 0; non-significant: 0; trend: 1)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Hinney, A., 2011	This GWAS in a small group of clinically ascertained young German patients with ADHD and population-based controls did not reveal genome-wide significant findings. Replication attempts in further German and international samples did also not lead to a P-value(s) below 5E-08.	Trend

Gene related SNPs (count: 7)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs2556378	Chr2:60762502(Fwd)	intron_variant; nc_transcript_variant	1(0/0/1)

LD-proxies (count: 6)

rs_ID	Location	Functional Annotation
rs2556376	Chr2:60760032(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs2556377	Chr2:60760637(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs971563	Chr2:60774773(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs2665668	Chr2:60768978(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs6739994	Chr2:60770454(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs3771270	Chr2:60769455(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 23)

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

GO terms by database search (count: 23)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:2000171	negative regulation of dendrite development	Biological Process	IMP[19616629]	2
GO:0048672	positive regulation of collateral sprouting	Biological Process	IMP[19616629]	2
GO:0050773	regulation of dendrite development	Biological Process	IMP[19616629]	3
GO:0046982	protein heterodimerization activity	Molecular Function	IPI[19616629]	68
GO:0048671	negative regulation of collateral sprouting	Biological Process	IMP[19616629]	2
GO:0042803	protein homodimerization activity	Molecular Function	TAS[19616629]	113
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	Biological Process	ISS[19616629]	131
GO:0030517	negative regulation of axon extension	Biological Process	ISS[19616629]	2
GO:0032463	negative regulation of protein homooligomerization	Biological Process	IC[19616629]	2
GO:0010629	negative regulation of gene expression	Biological Process		13
GO:0008270	zinc ion binding	Molecular Function		323
GO:0010977	negative regulation of neuron projection development	Biological Process	IDA[19616629]	4
GO:0010976	positive regulation of neuron projection development	Biological Process	IDA[19616629]	9
GO:0030097	hemopoiesis	Biological Process		8
GO:0016925	protein sumoylation	Biological Process		2
GO:0030217	T cell differentiation	Biological Process		5
GO:0030183	B cell differentiation	Biological Process		8
GO:0003714	transcription corepressor activity	Molecular Function		29
GO:0003676	nucleic acid binding	Molecular Function		41
GO:0005737	cytoplasm	Cellular Component	ISS[19616629]	690
GO:0005634	nucleus	Cellular Component	IDA[19616629]	770
GO:0006355	regulation of transcription, DNA-dependent	Biological Process		158
GO:0006351	transcription, DNA-dependent	Biological Process		247

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with BCL11A (count: 20)

Gene Symbol	Pathway Count	Pathway List
IKZF1	8	protein heterodimerization activity; positive regulation of transcription from RNA polymerase II promoter; zinc ion binding; T cell differentiation; B cell differentiation; cytoplasm; nucleus; transcription, DNA-dependent;
FOXP1	6	protein heterodimerization activity; protein homodimerization activity; positive regulation of transcription from RNA polymerase II promoter; zinc ion binding; cytoplasm; nucleus;
NR4A2	6	protein heterodimerization activity; positive regulation of transcription from RNA polymerase II promoter; zinc ion binding; cytoplasm; nucleus; transcription, DNA-dependent;
TFEB	6	protein heterodimerization activity; positive regulation of transcription from RNA polymerase II promoter; cytoplasm; nucleus; regulation of transcription, DNA-dependent; transcription, DNA-dependent;
SF1	6	zinc ion binding; transcription corepressor activity; nucleic acid binding; nucleus; regulation of transcription, DNA-dependent; transcription, DNA-dependent;
TRIM22	6	zinc ion binding; transcription corepressor activity; cytoplasm; nucleus; regulation of transcription, DNA-dependent; transcription, DNA-dependent;
BARD1	5	protein heterodimerization activity; protein homodimerization activity; zinc ion binding; cytoplasm; nucleus;
DAXX	5	protein homodimerization activity; cytoplasm; nucleus; regulation of transcription, DNA-dependent; transcription, DNA-dependent;
ZBTB16	5	protein homodimerization activity; zinc ion binding; hemopoiesis; nucleus; transcription, DNA-dependent;
FLCN	5	positive regulation of transcription from RNA polymerase II promoter; negative regulation of gene expression; hemopoiesis; cytoplasm; nucleus;
HOXB1	5	positive regulation of transcription from RNA polymerase II promoter; cytoplasm; nucleus; regulation of transcription, DNA-dependent; transcription, DNA-dependent;
MEN1	5	positive regulation of transcription from RNA polymerase II promoter; hemopoiesis; cytoplasm; nucleus; transcription, DNA-dependent;
HINFP	5	negative regulation of gene expression; zinc ion binding; nucleus; regulation of transcription, DNA-dependent; transcription, DNA-dependent;
DPF2	5	zinc ion binding; cytoplasm; nucleus; regulation of transcription, DNA-dependent; transcription, DNA-dependent;
IGHMBP2	5	zinc ion binding; cytoplasm; nucleus; regulation of transcription, DNA-dependent; transcription, DNA-dependent;
LPXN	5	zinc ion binding; cytoplasm; nucleus; regulation of transcription, DNA-dependent; transcription, DNA-dependent;
ZFP62	5	zinc ion binding; nucleic acid binding; nucleus; regulation of transcription, DNA-dependent; transcription, DNA-dependent;
ZNF263	5	zinc ion binding; cytoplasm; nucleus; regulation of transcription, DNA-dependent; transcription, DNA-dependent;
ZNF77	5	zinc ion binding; cytoplasm; nucleus; regulation of transcription, DNA-dependent; transcription, DNA-dependent;
SCAI	5	transcription corepressor activity; cytoplasm; nucleus; regulation of transcription, DNA-dependent; transcription, DNA-dependent;

Genes shared at least 2 KEGG pathways with BCL11A (count: 0)

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Region: chr2:60678302..60780702 View in gBrowse