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	MTMR2
Previous Symbol	CMT4B
Symbol Alias	KIAA1073
Approved Name	myotubularin related protein 2
Location	11q22
Position	chr11:95566044-95658479, -
External Links	HGNC: 7450 Entrez Gene: 8898 Ensembl: ENSG00000087053 UCSC: uc001pfu.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region

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: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
11q	chr11:53700000-135006516	2 (1/1/0)

Gene related GO terms (count: 32)

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

GO terms by database search (count: 32)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:2000645	negative regulation of receptor catabolic process	Biological Process		1
GO:2000643	positive regulation of early endosome to late endosome transport	Biological Process		2
GO:0006661	phosphatidylinositol biosynthetic process	Biological Process		12
GO:0006644	phospholipid metabolic process	Biological Process		59
GO:0006470	protein dephosphorylation	Biological Process	NAS[9736772]	18
GO:0005829	cytosol	Cellular Component		447
GO:0030424	axon	Cellular Component		35
GO:0014069	postsynaptic density	Cellular Component		23
GO:0008138	protein tyrosine/serine/threonine phosphatase activity	Molecular Function	NAS[9736772]	8
GO:0008021	synaptic vesicle	Cellular Component		13
GO:0004725	protein tyrosine phosphatase activity	Molecular Function		19
GO:0002091	negative regulation of receptor internalization	Biological Process		2
GO:0005774	vacuolar membrane	Cellular Component		3
GO:0005737	cytoplasm	Cellular Component	IDA[12837694]	690
GO:0005634	nucleus	Cellular Component	IDA[12837694]	770
GO:0005515	protein binding	Molecular Function	IPI[12837694]	910
GO:0048666	neuron development	Biological Process		7
GO:0051262	protein tetramerization	Biological Process		6
GO:0046855	inositol phosphate dephosphorylation	Biological Process		2
GO:0046856	phosphatidylinositol dephosphorylation	Biological Process		1
GO:0097060	synaptic membrane	Cellular Component		1
GO:0097062	dendritic spine maintenance	Biological Process		1
GO:0052866	phosphatidylinositol phosphate phosphatase activity	Molecular Function		1
GO:0090394	negative regulation of excitatory postsynaptic membrane potential	Biological Process		2
GO:0031901	early endosome membrane	Cellular Component		9
GO:0032288	myelin assembly	Biological Process		2
GO:0030425	dendrite	Cellular Component		46
GO:0031642	negative regulation of myelination	Biological Process		1
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0045806	negative regulation of endocytosis	Biological Process		3
GO:0042803	protein homodimerization activity	Molecular Function		113
GO:0043197	dendritic spine	Cellular Component		12

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa00051	Fructose and mannose metabolism	11

Genes shared at least 5 GO terms with MTMR2 (count: 33)

Gene Symbol	Pathway Count	Pathway List
ACHE	8	phospholipid metabolic process; axon; nucleus; protein binding; protein tetramerization; dendrite; small molecule metabolic process; protein homodimerization activity;
PRKD1	7	phospholipid metabolic process; cytosol; cytoplasm; nucleus; protein binding; small molecule metabolic process; negative regulation of endocytosis;
SNCA	7	phospholipid metabolic process; cytosol; axon; synaptic vesicle; cytoplasm; nucleus; protein binding;
PPP1CA	7	protein dephosphorylation; cytosol; cytoplasm; nucleus; protein binding; small molecule metabolic process; dendritic spine;
PDE2A	7	cytosol; axon; cytoplasm; nucleus; protein binding; dendrite; protein homodimerization activity;
TH	7	cytosol; synaptic vesicle; cytoplasm; nucleus; protein binding; dendrite; small molecule metabolic process;
INPPL1	6	phosphatidylinositol biosynthetic process; phospholipid metabolic process; cytosol; cytoplasm; protein binding; small molecule metabolic process;
PIK3CG	6	phosphatidylinositol biosynthetic process; phospholipid metabolic process; cytosol; cytoplasm; protein binding; small molecule metabolic process;
SHMT1	6	cytosol; cytoplasm; nucleus; protein tetramerization; small molecule metabolic process; protein homodimerization activity;
PI4K2B	5	phosphatidylinositol biosynthetic process; phospholipid metabolic process; cytosol; cytoplasm; small molecule metabolic process;
PI4KA	5	phosphatidylinositol biosynthetic process; phospholipid metabolic process; cytosol; protein binding; small molecule metabolic process;
PIK3C3	5	phosphatidylinositol biosynthetic process; phospholipid metabolic process; cytosol; protein binding; small molecule metabolic process;
PIK3R1	5	phosphatidylinositol biosynthetic process; phospholipid metabolic process; cytosol; protein binding; small molecule metabolic process;
TPTE2	5	phosphatidylinositol biosynthetic process; phospholipid metabolic process; protein tyrosine/serine/threonine phosphatase activity; protein tyrosine phosphatase activity; small molecule metabolic process;
LPIN1	5	phospholipid metabolic process; cytosol; cytoplasm; nucleus; small molecule metabolic process;
DUSP12	5	protein dephosphorylation; protein tyrosine/serine/threonine phosphatase activity; protein tyrosine phosphatase activity; cytoplasm; nucleus;
PTPN14	5	protein dephosphorylation; protein tyrosine phosphatase activity; cytoplasm; nucleus; protein binding;
PTPRK	5	protein dephosphorylation; axon; protein tyrosine phosphatase activity; protein binding; dendrite;
SSH3	5	protein dephosphorylation; protein tyrosine/serine/threonine phosphatase activity; protein tyrosine phosphatase activity; cytoplasm; nucleus;
ARRB2	5	cytosol; postsynaptic density; cytoplasm; nucleus; protein binding;
CEP57	5	cytosol; cytoplasm; nucleus; protein binding; protein homodimerization activity;
CRYAB	5	cytosol; cytoplasm; nucleus; protein binding; protein homodimerization activity;
DAXX	5	cytosol; cytoplasm; nucleus; protein binding; protein homodimerization activity;
DDC	5	cytosol; axon; synaptic vesicle; protein binding; small molecule metabolic process;
GSK3B	5	cytosol; cytoplasm; nucleus; protein binding; dendritic spine;
GSTP1	5	cytosol; cytoplasm; nucleus; protein binding; small molecule metabolic process;
PAFAH1B1	5	cytosol; cytoplasm; nucleus; protein binding; protein homodimerization activity;
PAK1	5	cytosol; axon; cytoplasm; protein binding; dendrite;
PSMC3	5	cytosol; cytoplasm; nucleus; protein binding; small molecule metabolic process;
PYCARD	5	cytosol; cytoplasm; nucleus; protein binding; protein homodimerization activity;
TXN	5	cytosol; axon; protein binding; dendrite; small molecule metabolic process;
CADM1	5	axon; synaptic vesicle; protein binding; dendrite; protein homodimerization activity;
BNIP3	5	cytoplasm; nucleus; protein binding; dendrite; protein homodimerization activity;

Genes shared at least 2 KEGG pathways with MTMR2 (count: 0)

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Region: chr11:95566044..95658479 View in gBrowse