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	EHD3
Previous Symbol	PAST3
Approved Name	EH-domain containing 3
Location	2p21
Position	chr2:31456880-31492313, +
External Links	HGNC: 3244 Entrez Gene: 30845 Ensembl: ENSG00000013016 UCSC: uc002rnu.2
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: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Elia[2010]_18	chr2:31338100-31376929 (NCBI Build 35 (hg17))	38830	2p23.1	Deletion (hemizygous)	Paternal

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 18)

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

GO terms by database search (count: 18)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005515	protein binding	Molecular Function	IPI[17233914]	910
GO:0005509	calcium ion binding	Molecular Function		124
GO:0005525	GTP binding	Molecular Function		53
GO:0005524	ATP binding	Molecular Function		228
GO:0003924	GTPase activity	Molecular Function		41
GO:0003676	nucleic acid binding	Molecular Function	TAS[10673336]	41
GO:0072661	protein targeting to plasma membrane	Biological Process		5
GO:0086036	regulation of cardiac muscle cell membrane potential	Biological Process		2
GO:0051260	protein homooligomerization	Biological Process	IPI[17233914]	34
GO:0055038	recycling endosome membrane	Cellular Component	IDA[17233914]	5
GO:0032456	endocytic recycling	Biological Process	IDA[17233914]	4
GO:0048471	perinuclear region of cytoplasm	Cellular Component		87
GO:0010008	endosome membrane	Cellular Component		27
GO:0030139	endocytic vesicle	Cellular Component		12
GO:0005886	plasma membrane	Cellular Component		772
GO:0007596	blood coagulation	Biological Process		83
GO:0005634	nucleus	Cellular Component	TAS[10673336]	770
GO:0005737	cytoplasm	Cellular Component		690

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04144	Endocytosis	39	Endocytosis is a mechanism for cells to remove ligands, nutr...... Endocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins entering through clathrin-dependent endocytosis (CDE) have sequences in their cytoplasmic domains that bind to the APs (adaptor-related protein complexes) and enable their rapid removal from the PM. In addition to APs and clathrin, there are numerous accessory proteins including dynamin. Depending on the various proteins that enter the endosome membrane, these cargoes are sorted to distinct destinations. Some cargoes, such as nutrient receptors, are recycled back to the PM. Ubiquitylated membrane proteins, such as activated growth-factor receptors, are sorted into intraluminal vesicles and eventually end up in the lysosome lumen via multivesicular endosomes (MVEs). There are distinct mechanisms of clathrin-independent endocytosis (CIE) depending upon the cargo and the cell type. More...

Genes shared at least 5 GO terms with EHD3 (count: 35)

Gene Symbol	Pathway Count	Pathway List
EHD1	13	protein binding; calcium ion binding; GTP binding; ATP binding; GTPase activity; protein homooligomerization; recycling endosome membrane; endocytic recycling; perinuclear region of cytoplasm; endosome membrane; endocytic vesicle; plasma membrane; blood coagulation;
ERBB2	6	protein binding; ATP binding; perinuclear region of cytoplasm; endosome membrane; plasma membrane; nucleus;
GSK3B	6	protein binding; ATP binding; perinuclear region of cytoplasm; plasma membrane; nucleus; cytoplasm;
PDE2A	6	protein binding; perinuclear region of cytoplasm; plasma membrane; blood coagulation; nucleus; cytoplasm;
PRKCB	6	protein binding; ATP binding; plasma membrane; blood coagulation; nucleus; cytoplasm;
RAB14	6	protein binding; GTP binding; GTPase activity; endocytic recycling; perinuclear region of cytoplasm; plasma membrane;
SNCA	6	protein binding; calcium ion binding; perinuclear region of cytoplasm; plasma membrane; nucleus; cytoplasm;
APOA1	5	protein binding; endocytic vesicle; plasma membrane; blood coagulation; nucleus;
ARF6	5	protein binding; GTP binding; GTPase activity; endosome membrane; plasma membrane;
ARRB1	5	protein binding; plasma membrane; blood coagulation; nucleus; cytoplasm;
ARRB2	5	protein binding; plasma membrane; blood coagulation; nucleus; cytoplasm;
CBL	5	protein binding; calcium ion binding; plasma membrane; nucleus; cytoplasm;
CHD1L	5	protein binding; ATP binding; plasma membrane; nucleus; cytoplasm;
CRYAB	5	protein binding; protein homooligomerization; plasma membrane; nucleus; cytoplasm;
DDX23	5	protein binding; ATP binding; nucleic acid binding; plasma membrane; nucleus;
EFTUD2	5	protein binding; GTP binding; GTPase activity; nucleus; cytoplasm;
FLT4	5	protein binding; ATP binding; plasma membrane; nucleus; cytoplasm;
FRK	5	protein binding; ATP binding; plasma membrane; nucleus; cytoplasm;
HSPA5	5	protein binding; calcium ion binding; ATP binding; blood coagulation; nucleus;
IGHMBP2	5	protein binding; ATP binding; protein homooligomerization; nucleus; cytoplasm;
LPXN	5	protein binding; perinuclear region of cytoplasm; plasma membrane; nucleus; cytoplasm;
MAGI2	5	protein binding; perinuclear region of cytoplasm; plasma membrane; nucleus; cytoplasm;
MALT1	5	protein binding; perinuclear region of cytoplasm; plasma membrane; nucleus; cytoplasm;
MAPK1	5	protein binding; ATP binding; blood coagulation; nucleus; cytoplasm;
NF2	5	protein binding; perinuclear region of cytoplasm; plasma membrane; nucleus; cytoplasm;
PIK3CG	5	protein binding; ATP binding; plasma membrane; blood coagulation; cytoplasm;
PRKD1	5	protein binding; ATP binding; plasma membrane; nucleus; cytoplasm;
PRKG1	5	protein binding; ATP binding; plasma membrane; blood coagulation; cytoplasm;
PSMC3	5	protein binding; ATP binding; perinuclear region of cytoplasm; nucleus; cytoplasm;
STXBP3	5	protein binding; plasma membrane; blood coagulation; nucleus; cytoplasm;
TAF10	5	protein binding; protein homooligomerization; perinuclear region of cytoplasm; nucleus; cytoplasm;
TLR4	5	protein binding; perinuclear region of cytoplasm; endosome membrane; plasma membrane; cytoplasm;
TPPP	5	protein binding; perinuclear region of cytoplasm; plasma membrane; nucleus; cytoplasm;
RASD1	5	GTP binding; GTPase activity; perinuclear region of cytoplasm; plasma membrane; nucleus;
DGKH	5	ATP binding; plasma membrane; blood coagulation; nucleus; cytoplasm;

Genes shared at least 2 KEGG pathways with EHD3 (count: 0)

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Region: chr2:31456880..31492313 View in gBrowse