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	NF2
Symbol Alias	merlin
Approved Name	neurofibromin 2 (merlin)
Previous Name	neurofibromin 2 (bilateral acoustic neuroma)
Name Alias	moesin-ezrin-radixin like, "schwannomin"
Location	22q12.2
Position	chr22:29999545-30094589, +
External Links	HGNC: 7773 Entrez Gene: 4771 Ensembl: ENSG00000186575 UCSC: uc003age.3
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by PBA pathway

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 36)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0051493	regulation of cytoskeleton organization	Biological Process		32

GO terms by database search (count: 35)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005730	nucleolus	Cellular Component	IDA[9537418]	243
GO:0005737	cytoplasm	Cellular Component		690
GO:0005515	protein binding	Molecular Function	IPI[15467741]	910
GO:0005634	nucleus	Cellular Component		770
GO:0001707	mesoderm formation	Biological Process		3
GO:0001953	negative regulation of cell-matrix adhesion	Biological Process	TAS[17210637]	5
GO:0008092	cytoskeletal protein binding	Molecular Function		11
GO:0008156	negative regulation of DNA replication	Biological Process	IMP[17210637]	3
GO:0006469	negative regulation of protein kinase activity	Biological Process		13
GO:0007398	ectoderm development	Biological Process		1
GO:0005886	plasma membrane	Cellular Component		772
GO:0005912	adherens junction	Cellular Component		9
GO:0005769	early endosome	Cellular Component	IDA[10861283]	25
GO:0005856	cytoskeleton	Cellular Component	TAS[8379998]	54
GO:0032587	ruffle membrane	Cellular Component		12
GO:0035330	regulation of hippo signaling cascade	Biological Process		1
GO:0031527	filopodium membrane	Cellular Component		2
GO:0032154	cleavage furrow	Cellular Component		8
GO:0042524	negative regulation of tyrosine phosphorylation of Stat5 protein	Biological Process	IDA[12444102]	1
GO:0043409	negative regulation of MAPK cascade	Biological Process		5
GO:0042475	odontogenesis of dentin-containing tooth	Biological Process		8
GO:0042518	negative regulation of tyrosine phosphorylation of Stat3 protein	Biological Process	IDA[12444102]	1
GO:0019898	extrinsic to membrane	Cellular Component		8
GO:0022408	negative regulation of cell-cell adhesion	Biological Process	IDA[17210637]	2
GO:0008285	negative regulation of cell proliferation	Biological Process	IDA[12444102]; IMP[17210637]	59
GO:0014010	Schwann cell proliferation	Biological Process	IMP[17353411]	1
GO:0030336	negative regulation of cell migration	Biological Process	TAS[17210637]	13
GO:0030864	cortical actin cytoskeleton	Cellular Component		5
GO:0030027	lamellipodium	Cellular Component		27
GO:0030036	actin cytoskeleton organization	Biological Process	IMP[9537418]	21
GO:0048471	perinuclear region of cytoplasm	Cellular Component	IDA[17210637]	87
GO:0046426	negative regulation of JAK-STAT cascade	Biological Process	IDA[12444102]	1
GO:0045216	cell-cell junction organization	Biological Process		10
GO:0070306	lens fiber cell differentiation	Biological Process		4
GO:0051496	positive regulation of stress fiber assembly	Biological Process	IMP[9537418]	7

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with NF2 (count: 51)

Gene Symbol	Pathway Count	Pathway List
APC	9	cytoplasm; protein binding; nucleus; plasma membrane; ruffle membrane; negative regulation of MAPK cascade; negative regulation of cell proliferation; lamellipodium; regulation of cytoskeleton organization;
CORO1A	8	cytoplasm; protein binding; nucleus; cytoskeletal protein binding; plasma membrane; cortical actin cytoskeleton; lamellipodium; actin cytoskeleton organization;
MAPK1	7	nucleolus; cytoplasm; protein binding; nucleus; early endosome; cytoskeleton; regulation of cytoskeleton organization;
MAGI2	7	cytoplasm; protein binding; nucleus; plasma membrane; negative regulation of cell proliferation; negative regulation of cell migration; perinuclear region of cytoplasm;
RDX	7	cytoplasm; protein binding; plasma membrane; cytoskeleton; cleavage furrow; extrinsic to membrane; lamellipodium;
GSK3B	6	nucleolus; cytoplasm; protein binding; nucleus; plasma membrane; perinuclear region of cytoplasm;
MALT1	6	nucleolus; cytoplasm; protein binding; nucleus; plasma membrane; perinuclear region of cytoplasm;
MAPK3	6	nucleolus; protein binding; nucleus; early endosome; cytoskeleton; regulation of cytoskeleton organization;
MEN1	6	nucleolus; cytoplasm; protein binding; nucleus; cleavage furrow; negative regulation of cell proliferation;
PAFAH1B1	6	nucleolus; cytoplasm; protein binding; nucleus; actin cytoskeleton organization; perinuclear region of cytoplasm;
SPATA13	6	nucleolus; cytoplasm; protein binding; nucleus; ruffle membrane; lamellipodium;
CFL1	6	cytoplasm; protein binding; nucleus; ruffle membrane; cortical actin cytoskeleton; actin cytoskeleton organization;
CRIPAK	6	cytoplasm; protein binding; nucleus; negative regulation of protein kinase activity; plasma membrane; regulation of cytoskeleton organization;
CTNND1	6	cytoplasm; protein binding; nucleus; plasma membrane; lamellipodium; cell-cell junction organization;
INPPL1	6	cytoplasm; protein binding; negative regulation of DNA replication; plasma membrane; negative regulation of cell proliferation; lamellipodium;
AIP	5	nucleolus; cytoplasm; protein binding; nucleus; plasma membrane;
ATXN2	5	nucleolus; cytoplasm; protein binding; nucleus; perinuclear region of cytoplasm;
BAIAP2	5	nucleolus; cytoplasm; protein binding; nucleus; plasma membrane;
CDCA5	5	nucleolus; cytoplasm; protein binding; nucleus; plasma membrane;
CDH6	5	nucleolus; cytoplasm; nucleus; plasma membrane; cell-cell junction organization;
CHD1L	5	nucleolus; cytoplasm; protein binding; nucleus; plasma membrane;
COG3	5	nucleolus; cytoplasm; protein binding; nucleus; plasma membrane;
FHOD3	5	nucleolus; cytoplasm; protein binding; nucleus; cytoskeleton;
KLHL20	5	nucleolus; cytoplasm; protein binding; nucleus; perinuclear region of cytoplasm;
PRC1	5	nucleolus; cytoplasm; protein binding; nucleus; plasma membrane;
RNF40	5	nucleolus; cytoplasm; protein binding; nucleus; plasma membrane;
RRP8	5	nucleolus; cytoplasm; protein binding; nucleus; plasma membrane;
SAP18	5	nucleolus; cytoplasm; protein binding; nucleus; plasma membrane;
STXBP3	5	nucleolus; cytoplasm; protein binding; nucleus; plasma membrane;
TAOK2	5	nucleolus; cytoplasm; nucleus; cytoskeleton; actin cytoskeleton organization;
TFAP2A	5	nucleolus; cytoplasm; protein binding; nucleus; negative regulation of cell proliferation;
APBB1	5	cytoplasm; protein binding; nucleus; plasma membrane; lamellipodium;
CDC42EP2	5	cytoplasm; protein binding; plasma membrane; actin cytoskeleton organization; regulation of cytoskeleton organization;
CLASP2	5	cytoplasm; protein binding; plasma membrane; ruffle membrane; regulation of cytoskeleton organization;
EHD3	5	cytoplasm; protein binding; nucleus; plasma membrane; perinuclear region of cytoplasm;
FLCN	5	cytoplasm; protein binding; nucleus; plasma membrane; negative regulation of cell migration;
FLNC	5	cytoplasm; protein binding; cytoskeletal protein binding; plasma membrane; cytoskeleton;
FMN1	5	cytoplasm; nucleus; plasma membrane; adherens junction; actin cytoskeleton organization;
FRK	5	cytoplasm; protein binding; nucleus; plasma membrane; negative regulation of cell proliferation;
GSTP1	5	cytoplasm; protein binding; nucleus; negative regulation of protein kinase activity; negative regulation of MAPK cascade;
ILK	5	cytoplasm; protein binding; negative regulation of protein kinase activity; plasma membrane; lamellipodium;
LPXN	5	cytoplasm; protein binding; nucleus; plasma membrane; perinuclear region of cytoplasm;
NCK1	5	cytoplasm; protein binding; nucleus; plasma membrane; regulation of cytoskeleton organization;
PDE2A	5	cytoplasm; protein binding; nucleus; plasma membrane; perinuclear region of cytoplasm;
PTPN14	5	cytoplasm; protein binding; nucleus; cytoskeleton; negative regulation of cell proliferation;
SNCA	5	cytoplasm; protein binding; nucleus; plasma membrane; perinuclear region of cytoplasm;
TPPP	5	cytoplasm; protein binding; nucleus; plasma membrane; perinuclear region of cytoplasm;
TSC1	5	cytoplasm; protein binding; negative regulation of cell proliferation; lamellipodium; regulation of cytoskeleton organization;
ARF6	5	protein binding; plasma membrane; early endosome; filopodium membrane; regulation of cytoskeleton organization;
PTPRJ	5	protein binding; plasma membrane; ruffle membrane; negative regulation of cell proliferation; negative regulation of cell migration;
SORBS3	5	protein binding; nucleus; cytoskeleton; regulation of cytoskeleton organization; positive regulation of stress fiber assembly;

Genes shared at least 2 KEGG pathways with NF2 (count: 0)

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Region: chr22:29999545..30094589 View in gBrowse