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	BAIAP2
Symbol Alias	BAP2
Approved Name	BAI1-associated protein 2
Location	17q25
Position	chr17:79008947-79091232, +
External Links	HGNC: 947 Entrez Gene: 10458 Ensembl: ENSG00000175866 UCSC: uc002jzg.2
No. of Studies	1 (significant: 1; non-significant: 0; trend: 0)
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
Ribases M, 2009(a)	P-value=0.0026 for single-marker analysis, P-value=0.0016 for multiple-marker analysis in spanish population; P-value=0.0062 in German population. Significant association between BAIAP2 and adulthood ADHD was observed.	Significant

Gene related SNPs (count: 36)

Literature-origin SNPs (count: 13)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs7503597	Chr17:79049273(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant	1(0/1/0)
rs4076037	Chr17:79044284(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant	1(0/1/0)
rs4075482	Chr17:79074548(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/1/0)
rs4969245	Chr17:79056453(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/1/0)
rs4969349	Chr17:79006033(Fwd)	nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant	1(0/1/0)
rs11657991	Chr17:79029748(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/1/0)
rs4969385	Chr17:79068890(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(1/0/0)
rs11659017	Chr17:79018379(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant	1(0/1/0)
rs6565531	Chr17:79023380(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/1/0)
rs7210438	Chr17:79060180(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/1/0)
rs8079781	Chr17:79050148(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant	1(1/0/0)
rs8067235	Chr17:79024637(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/1/0)
rs8079626	Chr17:79026872(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(1/0/0)

LD-proxies (count: 23)

rs_ID	Location	Functional Annotation
rs11664	Chr17:79082862(Fwd)	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant
rs8080815	Chr17:79059230(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs8066330	Chr17:79058278(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs4969381	Chr17:79054676(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs4969377	Chr17:79053078(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs4076427	Chr17:79087537(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs4075483	Chr17:79074817(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs3935648	Chr17:79085335(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs1801833	Chr17:79091353(Fwd)	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant
rs8073904	Chr17:79095144(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; synonymous_variant; upstream_gene_variant
rs6565535	Chr17:79090448(Fwd)	3_prime_UTR_variant; downstream_gene_variant
rs8071392	Chr17:79091103(Fwd)	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant
rs11869351	Chr17:79026485(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs4969382	Chr17:79061083(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs4969391	Chr17:79089590(Fwd)	3_prime_UTR_variant; downstream_gene_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant
rs12452150	Chr17:79004616(Fwd)	nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs4969376	Chr17:79052815(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs9901648	Chr17:79035708(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs3934492	Chr17:79033964(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs6565532	Chr17:79023453(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs12601810	Chr17:79076230(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs4969380	Chr17:79054167(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs4969387	Chr17:79081724(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 24)

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

GO terms by database search (count: 24)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0016358	dendrite development	Biological Process		9
GO:0017124	SH3 domain binding	Molecular Function		22
GO:0030054	cell junction	Cellular Component		77
GO:0030175	filopodium	Cellular Component		5
GO:0032956	regulation of actin cytoskeleton organization	Biological Process	IMP[19366662]	6
GO:0042802	identical protein binding	Molecular Function	IPI[14752106]	70
GO:0043005	neuron projection	Cellular Component		35
GO:0046847	filopodium assembly	Biological Process		5
GO:0048167	regulation of synaptic plasticity	Biological Process		9
GO:0051017	actin filament bundle assembly	Biological Process		3
GO:0070064	proline-rich region binding	Molecular Function	IDA[19366662]	4
GO:0001726	ruffle	Cellular Component		14
GO:0005634	nucleus	Cellular Component		770
GO:0005515	protein binding	Molecular Function	IPI[19171758]	910
GO:0005737	cytoplasm	Cellular Component		690
GO:0005730	nucleolus	Cellular Component		243
GO:0005886	plasma membrane	Cellular Component		772
GO:0005829	cytosol	Cellular Component	IDA[19366662]	447
GO:0008022	protein C-terminus binding	Molecular Function	TAS[10343108]	32
GO:0007409	axonogenesis	Biological Process	TAS[10343108]	14
GO:0008286	insulin receptor signaling pathway	Biological Process	TAS[10343108]	32
GO:0008093	cytoskeletal adaptor activity	Molecular Function		5
GO:0015629	actin cytoskeleton	Cellular Component	IDA[19366662]	26
GO:0009617	response to bacterium	Biological Process	IMP[19366662]	4

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04520	Adherens junction	14	Cell-cell adherens junctions (AJs), the most common type of ...... Cell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation. At AJs, E-cadherin serves as an essential cell adhesion molecules (CAMs). The cytoplasmic tail binds beta-catenin, which in turn binds alpha-catenin. Alpha-catenin is associated with F-actin bundles directly and indirectly. The integrity of the cadherin-catenin complex is negatively regulated by phosphorylation of beta-catenin by receptor tyrosine kinases (RTKs) and cytoplasmic tyrosine kinases (Fer, Fyn, Yes, and Src), which leads to dissociation of the cadherin-catenin complex. Integrity of this complex is positively regulated by beta -catenin phosphorylation by casein kinase II, and dephosphorylation by protein tyrosine phosphatases. Changes in the phosphorylation state of beta-catenin affect cell-cell adhesion, cell migration and the level of signaling beta-catenin. Wnt signaling acts as a positive regulator of beta-catenin by inhibiting beta-catenin degradation, which stabilizes beta-catenin, and causes its accumulation. Cadherin may acts as a negative regulator of signaling beta-catenin as it binds beta-catenin at the cell surface and thereby sequesters it from the nucleus. Nectins also function as CAMs at AJs, but are more highly concentrated at AJs than E-cadherin. Nectins transduce signals through Cdc42 and Rac, which reorganize the actin cytoskeleton, regulate the formation of AJs, and strengthen cell-cell adhesion. More...
hsa04810	Regulation of actin cytoskeleton	48

Genes shared at least 5 GO terms with BAIAP2 (count: 88)

Gene Symbol	Pathway Count	Pathway List
SNCA	8	cell junction; identical protein binding; nucleus; protein binding; cytoplasm; plasma membrane; cytosol; actin cytoskeleton;
PAK1	7	dendrite development; identical protein binding; ruffle; protein binding; cytoplasm; plasma membrane; cytosol;
BCAR1	7	SH3 domain binding; ruffle; protein binding; cytoplasm; plasma membrane; cytosol; insulin receptor signaling pathway;
TJP1	7	cell junction; nucleus; protein binding; cytoplasm; plasma membrane; cytosol; protein C-terminus binding;
CBL	6	SH3 domain binding; nucleus; protein binding; cytoplasm; plasma membrane; cytosol;
ILK	6	SH3 domain binding; regulation of actin cytoskeleton organization; protein binding; cytoplasm; plasma membrane; cytosol;
SHANK2	6	SH3 domain binding; cell junction; neuron projection; protein binding; cytoplasm; plasma membrane;
SNAP23	6	cell junction; neuron projection; nucleus; protein binding; nucleolus; plasma membrane;
SNAP29	6	cell junction; neuron projection; nucleus; cytoplasm; nucleolus; plasma membrane;
SPATA13	6	filopodium; filopodium assembly; nucleus; protein binding; cytoplasm; nucleolus;
VIL1	6	filopodium; identical protein binding; ruffle; protein binding; cytoplasm; response to bacterium;
ATXN1	6	identical protein binding; nucleus; protein binding; cytoplasm; nucleolus; protein C-terminus binding;
PRC1	6	identical protein binding; nucleus; protein binding; cytoplasm; nucleolus; plasma membrane;
PRKD1	6	identical protein binding; nucleus; protein binding; cytoplasm; plasma membrane; cytosol;
RNF40	6	neuron projection; nucleus; protein binding; cytoplasm; nucleolus; plasma membrane;
APBB1	6	proline-rich region binding; nucleus; protein binding; cytoplasm; plasma membrane; axonogenesis;
AIP	6	nucleus; protein binding; cytoplasm; nucleolus; plasma membrane; cytosol;
APC	6	nucleus; protein binding; cytoplasm; plasma membrane; cytosol; axonogenesis;
GSK3B	6	nucleus; protein binding; cytoplasm; nucleolus; plasma membrane; cytosol;
MALT1	6	nucleus; protein binding; cytoplasm; nucleolus; plasma membrane; cytosol;
MAPK1	6	nucleus; protein binding; cytoplasm; nucleolus; cytosol; insulin receptor signaling pathway;
NCK1	6	nucleus; protein binding; cytoplasm; plasma membrane; cytosol; cytoskeletal adaptor activity;
STXBP3	6	nucleus; protein binding; cytoplasm; nucleolus; plasma membrane; cytosol;
WASL	6	nucleus; protein binding; plasma membrane; cytosol; actin cytoskeleton; response to bacterium;
GRIN3A	5	dendrite development; cell junction; identical protein binding; neuron projection; protein binding;
MAP1B	5	dendrite development; cell junction; protein binding; plasma membrane; cytosol;
PRKG1	5	dendrite development; protein binding; cytoplasm; plasma membrane; cytosol;
ADAM17	5	SH3 domain binding; protein binding; cytoplasm; plasma membrane; actin cytoskeleton;
FMN1	5	SH3 domain binding; nucleus; cytoplasm; plasma membrane; actin cytoskeleton;
INPPL1	5	SH3 domain binding; protein binding; cytoplasm; plasma membrane; cytosol;
PTTG1	5	SH3 domain binding; nucleus; protein binding; cytoplasm; cytosol;
RAD9A	5	SH3 domain binding; nucleus; protein binding; cytoplasm; nucleolus;
AMOTL1	5	cell junction; identical protein binding; protein binding; cytoplasm; cytosol;
ARHGAP32	5	cell junction; protein binding; plasma membrane; cytosol; actin cytoskeleton;
GOPC	5	cell junction; protein binding; cytoplasm; plasma membrane; protein C-terminus binding;
GRIN2B	5	cell junction; neuron projection; regulation of synaptic plasticity; protein binding; plasma membrane;
PERP	5	cell junction; nucleus; cytoplasm; nucleolus; plasma membrane;
SNAP25	5	cell junction; neuron projection; protein binding; cytoplasm; plasma membrane;
SYT1	5	cell junction; identical protein binding; neuron projection; protein binding; plasma membrane;
RDX	5	filopodium; ruffle; protein binding; cytoplasm; plasma membrane;
ROCK2	5	regulation of actin cytoskeleton organization; nucleus; protein binding; plasma membrane; cytosol;
ERBB2	5	identical protein binding; nucleus; protein binding; plasma membrane; protein C-terminus binding;
GPSM2	5	identical protein binding; nucleus; protein binding; cytoplasm; nucleolus;
RELA	5	identical protein binding; nucleus; protein binding; cytoplasm; cytosol;
TRIM5	5	identical protein binding; nucleus; protein binding; cytoplasm; nucleolus;
TH	5	neuron projection; nucleus; protein binding; cytoplasm; cytosol;
YAP1	5	proline-rich region binding; nucleus; protein binding; cytoplasm; cytosol;
AKAP7	5	nucleus; protein binding; plasma membrane; cytosol; protein C-terminus binding;
ALKBH8	5	nucleus; protein binding; cytoplasm; nucleolus; cytosol;
ARRB1	5	nucleus; protein binding; cytoplasm; plasma membrane; cytosol;
ARRB2	5	nucleus; protein binding; cytoplasm; plasma membrane; cytosol;
ATXN2	5	nucleus; protein binding; cytoplasm; nucleolus; protein C-terminus binding;
CDCA5	5	nucleus; protein binding; cytoplasm; nucleolus; plasma membrane;
CEP164	5	nucleus; protein binding; cytoplasm; nucleolus; cytosol;
CEP57	5	nucleus; protein binding; cytoplasm; nucleolus; cytosol;
CHD1L	5	nucleus; protein binding; cytoplasm; nucleolus; plasma membrane;
COG3	5	nucleus; protein binding; cytoplasm; nucleolus; plasma membrane;
CORO1A	5	nucleus; protein binding; cytoplasm; plasma membrane; protein C-terminus binding;
CRYAB	5	nucleus; protein binding; cytoplasm; plasma membrane; cytosol;
CTNND1	5	nucleus; protein binding; cytoplasm; plasma membrane; cytosol;
DAXX	5	nucleus; protein binding; cytoplasm; nucleolus; cytosol;
DCPS	5	nucleus; protein binding; cytoplasm; nucleolus; cytosol;
HNRNPH1	5	nucleus; protein binding; cytoplasm; nucleolus; actin cytoskeleton;
HSPA8	5	nucleus; protein binding; nucleolus; plasma membrane; cytosol;
IARS	5	nucleus; protein binding; cytoplasm; nucleolus; cytosol;
ID2	5	nucleus; protein binding; cytoplasm; nucleolus; cytosol;
KLHL20	5	nucleus; protein binding; cytoplasm; nucleolus; actin cytoskeleton;
MAPK3	5	nucleus; protein binding; nucleolus; cytosol; insulin receptor signaling pathway;
MEN1	5	nucleus; protein binding; cytoplasm; nucleolus; cytosol;
NF2	5	nucleus; protein binding; cytoplasm; nucleolus; plasma membrane;
NUMA1	5	nucleus; protein binding; cytoplasm; nucleolus; cytosol;
PAFAH1B1	5	nucleus; protein binding; cytoplasm; nucleolus; cytosol;
PDCD4	5	nucleus; protein binding; cytoplasm; nucleolus; cytosol;
PDE2A	5	nucleus; protein binding; cytoplasm; plasma membrane; cytosol;
PPP1CA	5	nucleus; protein binding; cytoplasm; nucleolus; cytosol;
PRKAA1	5	nucleus; protein binding; cytosol; protein C-terminus binding; insulin receptor signaling pathway;
PRKCB	5	nucleus; protein binding; cytoplasm; plasma membrane; cytosol;
RFWD2	5	nucleus; protein binding; cytoplasm; nucleolus; cytosol;
RILPL1	5	nucleus; cytoplasm; nucleolus; plasma membrane; cytosol;
RRP8	5	nucleus; protein binding; cytoplasm; nucleolus; plasma membrane;
SAP18	5	nucleus; protein binding; cytoplasm; nucleolus; plasma membrane;
SART1	5	nucleus; protein binding; cytoplasm; nucleolus; cytosol;
WWOX	5	nucleus; protein binding; cytoplasm; plasma membrane; cytosol;
WWP1	5	nucleus; protein binding; cytoplasm; plasma membrane; cytosol;
XRCC5	5	nucleus; protein binding; cytoplasm; nucleolus; protein C-terminus binding;
CTNNA2	5	protein binding; cytoplasm; cytosol; axonogenesis; actin cytoskeleton;
GRB10	5	protein binding; cytoplasm; plasma membrane; cytosol; insulin receptor signaling pathway;
NCF2	5	protein binding; cytoplasm; nucleolus; cytosol; protein C-terminus binding;

Genes shared at least 2 KEGG pathways with BAIAP2 (count: 4)

Gene Symbol	Pathway Count	Pathway List
ACTN3	2	Adherens junction; Regulation of actin cytoskeleton;
MAPK1	2	Adherens junction; Regulation of actin cytoskeleton;
MAPK3	2	Adherens junction; Regulation of actin cytoskeleton;
WASL	2	Adherens junction; Regulation of actin cytoskeleton;

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Region: chr17:79008947..79091232 View in gBrowse