ADHDgene Database

Hot Results

Quick Search

Keyword:
Type:

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	CD2BP2
Symbol Alias	LIN1, Snu40, PPP1R59
Approved Name	CD2 (cytoplasmic tail) binding protein 2
Previous Name	"CD2 antigen (cytoplasmic tail)-binding protein 2"
Name Alias	"protein phosphatase 1, regulatory subunit 59"
Location	16p11.2
Position	chr16:30362087-30366682, -1
External Links	HGNC: 1656 Entrez Gene: 10421 Ensembl: ENSG00000169217 UCSC: uc002dxs.3
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 3)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_16	chr16:29563594-30367556 (NCBI Build 36.1 (hg18))	803963	16p11.2	Loss
CNV_Williams[2010]_34	chr16:29342178-31155425 (NCBI Build 36.1 (hg18))	1813248	16p11.2	Loss	De novo
CNV_Williams[2010]_39	chr16:29342178-31155425 (NCBI Build 36.1 (hg18))	1813247	16p11.2	Gain

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 13)

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

GO terms by database search (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005515	protein binding	molecular function	IPI[15840814]	1015
GO:0005634	nucleus	cellular component	IDA[15840814]	877
GO:0010467	gene expression	biological process	TAS	154
GO:0000244	assembly of spliceosomal tri-snRNP	biological process	NAS[15840814]	2
GO:0016607	nuclear speck	cellular component	IDA[15840814]	40
GO:0000398	mRNA splicing, via spliceosome	biological process	TAS	58
GO:0005654	nucleoplasm	cellular component	IDA[15840814]; TAS	210
GO:0008380	RNA splicing	biological process	TAS	70
GO:0043021	ribonucleoprotein complex binding	molecular function	IDA[15840814]	4
GO:0046540	U4/U6 x U5 tri-snRNP complex	cellular component	IDA[15840814]	3
GO:0005737	cytoplasm	cellular component	IEA	781
GO:0010923	negative regulation of phosphatase activity	biological process	IDA[19389623]	10
GO:0005682	U5 snRNP	cellular component	IDA[15840814]	5

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with CD2BP2 (count: 54)

Gene Symbol	Pathway Count	Pathway List
PRPF6	11	protein binding; nucleus; gene expression; assembly of spliceosomal tri-snRNP; nuclear speck; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing; ribonucleoprotein complex binding; U4/U6 x U5 tri-snRNP complex; U5 snRNP;
EFTUD2	8	protein binding; nucleus; gene expression; nuclear speck; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing; cytoplasm;
RNPS1	8	protein binding; nucleus; gene expression; nuclear speck; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing; cytoplasm;
U2AF1	7	protein binding; nucleus; gene expression; nuclear speck; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing;
SNRNP200	7	protein binding; nucleus; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing; U5 snRNP;
PRPF4	7	protein binding; nucleus; gene expression; nuclear speck; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing;
DHX9	7	protein binding; nucleus; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing; cytoplasm;
HNRNPA2B1	7	protein binding; nucleus; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing; cytoplasm;
HNRNPH1	7	protein binding; nucleus; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing; cytoplasm;
SF3A3	7	protein binding; nucleus; gene expression; nuclear speck; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing;
DDX23	7	protein binding; nucleus; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing; U5 snRNP;
PRPF8	7	protein binding; gene expression; nuclear speck; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing; U5 snRNP;
FUS	7	protein binding; nucleus; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing; cytoplasm;
SMC1A	7	protein binding; nucleus; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing; cytoplasm;
PPIH	6	protein binding; nuclear speck; mRNA splicing, via spliceosome; ribonucleoprotein complex binding; U4/U6 x U5 tri-snRNP complex; cytoplasm;
GEMIN2	6	protein binding; nucleus; gene expression; nucleoplasm; RNA splicing; cytoplasm;
NCBP1	6	protein binding; nucleus; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing;
CPSF7	6	protein binding; nucleus; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing;
SNRPD1	6	protein binding; nucleus; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing;
SF3A1	6	protein binding; nucleus; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing;
RBM4	6	protein binding; nucleus; nuclear speck; nucleoplasm; RNA splicing; cytoplasm;
HNRNPA1	6	nucleus; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing; cytoplasm;
SNRPG	5	protein binding; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing;
SNRPB	5	protein binding; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing;
RBPJ	5	protein binding; nucleus; gene expression; nucleoplasm; cytoplasm;
MAML1	5	protein binding; nucleus; gene expression; nuclear speck; nucleoplasm;
U2AF2	5	protein binding; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing;
SF3B4	5	protein binding; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing;
SSRP1	5	protein binding; nucleus; gene expression; nucleoplasm; cytoplasm;
NR4A2	5	protein binding; nucleus; gene expression; nucleoplasm; cytoplasm;
PRPF19	5	protein binding; nucleus; nuclear speck; mRNA splicing, via spliceosome; cytoplasm;
SNW1	5	protein binding; nucleus; gene expression; mRNA splicing, via spliceosome; nucleoplasm;
SNRPB2	5	protein binding; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing;
SNRPD3	5	protein binding; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing;
TXNL4A	5	protein binding; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing;
PGR	5	protein binding; nucleus; gene expression; nucleoplasm; cytoplasm;
HNRNPC	5	protein binding; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing;
SNRPA1	5	protein binding; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing;
TAF10	5	protein binding; nucleus; gene expression; nucleoplasm; cytoplasm;
SART1	5	protein binding; nucleus; mRNA splicing, via spliceosome; nucleoplasm; cytoplasm;
CREBBP	5	protein binding; nucleus; gene expression; nucleoplasm; cytoplasm;
SNRPA	5	protein binding; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing;
CPSF3	5	protein binding; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing;
NEDD4L	5	protein binding; nucleus; gene expression; nucleoplasm; cytoplasm;
YAP1	5	protein binding; nucleus; gene expression; nucleoplasm; cytoplasm;
MEN1	5	protein binding; nucleus; gene expression; nucleoplasm; cytoplasm;
PSMC3	5	protein binding; nucleus; gene expression; nucleoplasm; cytoplasm;
SNRPD2	5	protein binding; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing;
DGCR8	5	protein binding; nucleus; gene expression; nucleoplasm; cytoplasm;
SMNDC1	5	protein binding; nucleus; nuclear speck; RNA splicing; cytoplasm;
POLR2G	5	nucleus; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing;
SUGP1	5	nucleus; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing;
SF3B2	5	nucleus; gene expression; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing;
PHF5A	5	gene expression; nuclear speck; mRNA splicing, via spliceosome; nucleoplasm; RNA splicing;

Genes shared at least 2 KEGG pathways with CD2BP2 (count: 0)

View in gBrowse

Region: chr16:30362087..30366682 View in gBrowse