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, 1
External Links	HGNC: 3244 Entrez Gene: 30845 Ensembl: ENSG00000013016 UCSC: uc002rnu.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: 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:0003924	GTPase activity	molecular function	IEA	46
GO:0005524	ATP binding	molecular function	IEA	265
GO:0030139	endocytic vesicle	cellular component	IEA	12
GO:0051260	protein homooligomerization	biological process	IPI[17233914]	38
GO:0005509	calcium ion binding	molecular function	IEA	140
GO:0003676	nucleic acid binding	molecular function	TAS[10673336]	46
GO:0005634	nucleus	cellular component	TAS[10673336]	877
GO:0048471	perinuclear region of cytoplasm	cellular component	IEA	99
GO:0005886	plasma membrane	cellular component	IEA	839
GO:0086036	regulation of cardiac muscle cell membrane potential	biological process	IGI	2
GO:0005525	GTP binding	molecular function	IEA	64
GO:0055038	recycling endosome membrane	cellular component	IDA[17233914]	6
GO:0005515	protein binding	molecular function	IPI[17233914]	1015
GO:0010008	endosome membrane	cellular component	TAS	31
GO:0032456	endocytic recycling	biological process	IDA[17233914]	5
GO:0005737	cytoplasm	cellular component	ISS	781
GO:0007596	blood coagulation	biological process	TAS	85
GO:0072661	protein targeting to plasma membrane	biological process	IGI	7

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with EHD3 (count: 42)

Gene Symbol	Pathway Count	Pathway List
EHD1	13	GTPase activity; ATP binding; endocytic vesicle; protein homooligomerization; calcium ion binding; perinuclear region of cytoplasm; plasma membrane; GTP binding; recycling endosome membrane; protein binding; endosome membrane; endocytic recycling; blood coagulation;
RAB14	6	GTPase activity; perinuclear region of cytoplasm; plasma membrane; GTP binding; protein binding; endocytic recycling;
GSK3B	6	ATP binding; nucleus; perinuclear region of cytoplasm; plasma membrane; protein binding; cytoplasm;
ERBB2	6	ATP binding; nucleus; perinuclear region of cytoplasm; plasma membrane; protein binding; endosome membrane;
AXIN1	6	protein homooligomerization; nucleus; perinuclear region of cytoplasm; plasma membrane; protein binding; cytoplasm;
SNCA	6	calcium ion binding; nucleus; perinuclear region of cytoplasm; plasma membrane; protein binding; cytoplasm;
PDE2A	6	nucleus; perinuclear region of cytoplasm; plasma membrane; protein binding; cytoplasm; blood coagulation;
RASD1	5	GTPase activity; nucleus; perinuclear region of cytoplasm; plasma membrane; GTP binding;
RHOT2	5	GTPase activity; calcium ion binding; plasma membrane; GTP binding; protein binding;
EFTUD2	5	GTPase activity; nucleus; GTP binding; protein binding; cytoplasm;
ARF6	5	GTPase activity; plasma membrane; GTP binding; protein binding; endosome membrane;
PSMC3	5	ATP binding; nucleus; perinuclear region of cytoplasm; protein binding; cytoplasm;
FLT4	5	ATP binding; nucleus; plasma membrane; protein binding; cytoplasm;
HSPA5	5	ATP binding; calcium ion binding; nucleus; protein binding; blood coagulation;
DGKG	5	ATP binding; calcium ion binding; plasma membrane; cytoplasm; blood coagulation;
PIK3CG	5	ATP binding; plasma membrane; protein binding; cytoplasm; blood coagulation;
ATP2A1	5	ATP binding; calcium ion binding; perinuclear region of cytoplasm; protein binding; blood coagulation;
FRK	5	ATP binding; nucleus; plasma membrane; protein binding; cytoplasm;
DDX23	5	ATP binding; nucleic acid binding; nucleus; plasma membrane; protein binding;
PRKG1	5	ATP binding; plasma membrane; protein binding; cytoplasm; blood coagulation;
IGHMBP2	5	ATP binding; protein homooligomerization; nucleus; protein binding; cytoplasm;
CHD1L	5	ATP binding; nucleus; plasma membrane; protein binding; cytoplasm;
DGKH	5	ATP binding; nucleus; plasma membrane; cytoplasm; blood coagulation;
PRKD1	5	ATP binding; nucleus; plasma membrane; protein binding; cytoplasm;
PDPK1	5	ATP binding; plasma membrane; protein binding; cytoplasm; blood coagulation;
MAPK1	5	ATP binding; nucleus; protein binding; cytoplasm; blood coagulation;
APOA1	5	endocytic vesicle; nucleus; plasma membrane; protein binding; blood coagulation;
CRYAB	5	protein homooligomerization; nucleus; plasma membrane; protein binding; cytoplasm;
TAF10	5	protein homooligomerization; nucleus; perinuclear region of cytoplasm; protein binding; cytoplasm;
TSC2	5	protein homooligomerization; nucleus; perinuclear region of cytoplasm; protein binding; cytoplasm;
RAB11FIP3	5	calcium ion binding; nucleus; recycling endosome membrane; protein binding; endocytic recycling;
CBL	5	calcium ion binding; nucleus; plasma membrane; protein binding; cytoplasm;
CHP2	5	calcium ion binding; nucleus; plasma membrane; protein binding; cytoplasm;
MALT1	5	nucleus; perinuclear region of cytoplasm; plasma membrane; protein binding; cytoplasm;
ARRB1	5	nucleus; plasma membrane; protein binding; cytoplasm; blood coagulation;
ARRB2	5	nucleus; plasma membrane; protein binding; cytoplasm; blood coagulation;
NF2	5	nucleus; perinuclear region of cytoplasm; plasma membrane; protein binding; cytoplasm;
STXBP3	5	nucleus; plasma membrane; protein binding; cytoplasm; blood coagulation;
TPPP	5	nucleus; perinuclear region of cytoplasm; plasma membrane; protein binding; cytoplasm;
LPXN	5	nucleus; perinuclear region of cytoplasm; plasma membrane; protein binding; cytoplasm;
MAGI2	5	nucleus; perinuclear region of cytoplasm; plasma membrane; protein binding; cytoplasm;
TLR4	5	perinuclear region of cytoplasm; plasma membrane; protein binding; endosome membrane; cytoplasm;

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

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Region: chr2:31456880..31492313 View in gBrowse