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	TUBA3D
Symbol Alias	H2-ALPHA
Approved Name	tubulin, alpha 3d
Name Alias	alpha-tubulin isotype H2-alpha
Location	2q21.1
Position	chr2:132233666-132240507, +
External Links	HGNC: 24071 Entrez Gene: 113457 Ensembl: ENSG00000075886 UCSC: uc002tsu.3
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV; Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Jarick[2012]_5	chr2:131198948-131951456 (NCBI36 / hg18)	752509	2q21.1	dup

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
2q21.1	chr2:129900000-132500000	1 (1/0/0)

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:0044267	cellular protein metabolic process	Biological Process		64
GO:0051084	'de novo' posttranslational protein folding	Biological Process		3
GO:0051258	protein polymerization	Biological Process		7
GO:0006457	protein folding	Biological Process		28
GO:0007017	microtubule-based process	Biological Process		4
GO:0007018	microtubule-based movement	Biological Process		20
GO:0015630	microtubule cytoskeleton	Cellular Component		34
GO:0005515	protein binding	Molecular Function	IPI[16189514]	910
GO:0005525	GTP binding	Molecular Function		53
GO:0005737	cytoplasm	Cellular Component		690
GO:0005874	microtubule	Cellular Component		52
GO:0003924	GTPase activity	Molecular Function		41
GO:0005198	structural molecule activity	Molecular Function		29

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05130	Pathogenic Escherichia coli infection	17	Eenteropathogenic E. coli (EPEC) and enterohemorrhagic E. co...... Eenteropathogenic E. coli (EPEC) and enterohemorrhagic E. coli (EHEC) are closely related pathogenic strains of Escherichia coli. The hallmark of EPEC/EHEC infections [DS:H00278 H00277] is induction of attaching and effacing (A/E) lesions that damage intestinal epithelial cells. The capacity to form A/E lesions is encoded mainly by the locus of enterocyte effacement (LEE) pathogenicity island. Tir, Map, EspF, EspG are known LEE-encoded effector proteins secreted via the type III secretion system, which is also LEE-encoded, into the host cell. EPEC and EHEC Tir's link the extracellular bacterium to the cell cytoskeleton. Map and EspF are involved in mitochondrion membrane permeabilization. EspG interacts with tubulins and stimulates microtubule destabilization. LEE-encoded adhesin or intimin (Eae) is exported via the general secretory pathway to the periplasm, where it is inserted into the outer membrane. In addition to Tir, two potential host cell-carried intimin receptors, beta1 integrin (ITGB1) and nucleolin (NCL), have so far been identified. The distinguishing feature of EHEC is the elaboration of Shiga-like toxin (Stx). Stx cleaves ribosomal RNA, thereby disrupting protein synthesis and killing the intoxicated epithelial or endothelial cells. More...
hsa04145	Phagosome	32	Phagocytosis is the process of taking in relatively large pa...... Phagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is formed when the specific receptors on the phagocyte surface recognize ligands on the particle surface. After formation, nascent phagosomes progressively acquire digestive characteristics. This maturation of phagosomes involves regulated interaction with the other membrane organelles, including recycling endosomes, late endosomes and lysosomes. The fusion of phagosomes and lysosomes releases toxic products that kill most bacteria and degrade them into fragments. However, some bacteria have strategies to escape the bactericidal mechanisms associated with phagocytosis and survive within host phagocytes. More...
hsa04540	Gap junction	27	Gap junctions contain intercellular channels that allow dire...... Gap junctions contain intercellular channels that allow direct communication between the cytosolic compartments of adjacent cells. Each gap junction channel is formed by docking of two 'hemichannels', each containing six connexins, contributed by each neighboring cell. These channels permit the direct transfer of small molecules including ions, amino acids, nucleotides, second messengers and other metabolites between adjacent cells. Gap junctional communication is essential for many physiological events, including embryonic development, electrical coupling, metabolic transport, apoptosis, and tissue homeostasis. Communication through Gap Junction is sensitive to a variety of stimuli, including changes in the level of intracellular Ca2+, pH, transjunctional applied voltage and phosphorylation/dephosphorylation processes. This figure represents the possible activation routes of different protein kinases involved in Cx43 and Cx36 phosphorylation. More...

Genes shared at least 5 GO terms with TUBA3D (count: 5)

Gene Symbol	Pathway Count	Pathway List
TUBB3	11	cellular protein metabolic process; 'de novo' posttranslational protein folding; protein polymerization; protein folding; microtubule-based movement; microtubule cytoskeleton; GTP binding; cytoplasm; microtubule; GTPase activity; structural molecule activity;
TUBA4A	10	cellular protein metabolic process; 'de novo' posttranslational protein folding; protein polymerization; protein folding; microtubule-based movement; microtubule cytoskeleton; GTP binding; microtubule; GTPase activity; structural molecule activity;
TUBA3E	8	protein polymerization; microtubule-based movement; microtubule cytoskeleton; GTP binding; cytoplasm; microtubule; GTPase activity; structural molecule activity;
TUBA4B	6	protein polymerization; microtubule-based movement; GTP binding; cytoplasm; microtubule; structural molecule activity;
TUBG1	5	protein polymerization; protein binding; GTP binding; cytoplasm; GTPase activity;

Genes shared at least 2 KEGG pathways with TUBA3D (count: 5)

Gene Symbol	Pathway Count	Pathway List
TUBA3C	3	Pathogenic Escherichia coli infection; Phagosome; Gap junction;
TUBA3E	3	Pathogenic Escherichia coli infection; Phagosome; Gap junction;
TUBA4A	3	Pathogenic Escherichia coli infection; Phagosome; Gap junction;
TUBB3	3	Pathogenic Escherichia coli infection; Phagosome; Gap junction;
TLR4	2	Pathogenic Escherichia coli infection; Phagosome;

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Region: chr2:132233666..132240507 View in gBrowse