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	EIF2B1
Previous Symbol	EIF2B
Symbol Alias	EIF-2Balpha, EIF-2B, EIF2BA
Approved Name	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
Previous Name	eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)
Location	12q24.3
Position	chr12:124105570-124118323, -
External Links	HGNC: 3257 Entrez Gene: 1967 Ensembl: ENSG00000111361 UCSC: uc001ufm.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_Jarick[2012]_26	chr12:122465458-124605386 (NCBI36 / hg18)	2139929	12q24.31-12q24.32	dup

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 23)

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

GO terms by database search (count: 23)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0006413	translational initiation	Biological Process	IDA[16289705]	14
GO:0006412	translation	Biological Process		42
GO:0005886	plasma membrane	Cellular Component	IDA[9235896]	772
GO:0005851	eukaryotic translation initiation factor 2B complex	Cellular Component	IDA[11323413]	1
GO:0005829	cytosol	Cellular Component		447
GO:0005737	cytoplasm	Cellular Component	IDA[9235896]	690
GO:0005525	GTP binding	Molecular Function		53
GO:0005515	protein binding	Molecular Function	IPI[9235896]	910
GO:0005085	guanyl-nucleotide exchange factor activity	Molecular Function	IDA[11323413]	17
GO:0003743	translation initiation factor activity	Molecular Function	IDA[16289705]	3
GO:0009408	response to heat	Biological Process	TAS[12499492]	7
GO:0006446	regulation of translational initiation	Biological Process		3
GO:0010467	gene expression	Biological Process		140
GO:0009749	response to glucose stimulus	Biological Process		10
GO:0016020	membrane	Cellular Component	IDA[9235896]	139
GO:0014003	oligodendrocyte development	Biological Process	IMP[15217090]	3
GO:0019509	L-methionine salvage from methylthioadenosine	Biological Process		1
GO:0019003	GDP binding	Molecular Function		6
GO:0043434	response to peptide hormone stimulus	Biological Process		9
GO:0032057	negative regulation of translational initiation in response to stress	Biological Process		1
GO:0046523	S-methyl-5-thioribose-1-phosphate isomerase activity	Molecular Function		1
GO:0044267	cellular protein metabolic process	Biological Process		64
GO:0051716	cellular response to stimulus	Biological Process	IDA[8626696]	1

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa03013	RNA transport	15	RNA transport from the nucleus to the cytoplasm is fundamen...... RNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) via mobile export receptors. The majority of RNAs, such as tRNAs, rRNAs, and U snRNAs, are transported by specific export receptors, which belong to the karyopherin-beta family proteins. A feature of karyopherins is their regulation by the small GTPase Ran. However, general mRNA export is mechanistically different. Nuclear export of mRNAs is functionally coupled to different steps in gene expression processes, such as transcription, splicing, 3'-end formation and even translation. More...

Genes shared at least 5 GO terms with EIF2B1 (count: 22)

Gene Symbol	Pathway Count	Pathway List
RPL14	7	translational initiation; translation; cytosol; cytoplasm; protein binding; gene expression; cellular protein metabolic process;
RPS3	7	translational initiation; translation; cytosol; cytoplasm; protein binding; gene expression; cellular protein metabolic process;
RPS9	7	translational initiation; translation; cytosol; cytoplasm; protein binding; gene expression; cellular protein metabolic process;
RPL13	6	translational initiation; translation; cytosol; protein binding; gene expression; cellular protein metabolic process;
RPL35	6	translational initiation; translation; cytosol; cytoplasm; gene expression; cellular protein metabolic process;
RPS15A	6	translational initiation; translation; cytosol; cytoplasm; gene expression; cellular protein metabolic process;
RPS25	6	translational initiation; translation; cytosol; cytoplasm; gene expression; cellular protein metabolic process;
FAU	5	translational initiation; translation; cytosol; gene expression; cellular protein metabolic process;
RPL12	5	translational initiation; translation; cytosol; gene expression; cellular protein metabolic process;
RPL37	5	translational initiation; translation; cytosol; gene expression; cellular protein metabolic process;
RPL37A	5	translational initiation; translation; cytosol; gene expression; cellular protein metabolic process;
RPL38	5	translational initiation; translation; cytosol; gene expression; cellular protein metabolic process;
RPS12	5	translational initiation; translation; cytosol; gene expression; cellular protein metabolic process;
EEF1D	5	translation; cytosol; protein binding; gene expression; cellular protein metabolic process;
EEF1G	5	translation; cytosol; protein binding; gene expression; cellular protein metabolic process;
SRP19	5	translation; cytosol; cytoplasm; gene expression; cellular protein metabolic process;
ADRBK1	5	plasma membrane; cytosol; cytoplasm; protein binding; membrane;
CTGF	5	plasma membrane; cytosol; gene expression; response to glucose stimulus; response to peptide hormone stimulus;
PIK3CG	5	plasma membrane; cytosol; cytoplasm; protein binding; membrane;
PLCE1	5	plasma membrane; cytosol; cytoplasm; protein binding; guanyl-nucleotide exchange factor activity;
RAB14	5	plasma membrane; cytosol; GTP binding; protein binding; GDP binding;
RAN	5	cytosol; cytoplasm; GTP binding; protein binding; gene expression;

Genes shared at least 2 KEGG pathways with EIF2B1 (count: 0)

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Region: chr12:124105570..124118323 View in gBrowse