Gene table of EIF2B2 : eukaryotic translation initiation factor 2B subunit beta

Gene-disease associations table

Disease ID	Disease name	Source of annotation with EIF2B2	OMIM link	Number of associated genes	genes
603896	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	EIF2B3, EIF2B2, EIF2B1, EIF2B5, EIF2B4

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
RNA transport	hsa03013	5.37

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Gene Expression	R-HSA-74160	2.72
Metabolism of proteins	R-HSA-392499	3.41
Translation	R-HSA-72766	5.8
Recycling of eIF2:GDP	R-HSA-72731	9.98
Cap-dependent Translation Initiation	R-HSA-72737	6.18
Eukaryotic Translation Initiation	R-HSA-72613	6.18

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
guanyl-nucleotide exchange factor activity	GO:0005085	4.02
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
molecular function regulator	GO:0098772	2.51
heterocyclic compound binding	GO:1901363	1.06
intramolecular oxidoreductase activity, interconverting aldoses and ketoses	GO:0016861	7.25
intramolecular oxidoreductase activity	GO:0016860	5.75
nucleotide binding	GO:0000166	1.96
guanyl ribonucleotide binding	GO:0032561	3.73
S-methyl-5-thioribose-1-phosphate isomerase activity	GO:0046523	8.35
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
nucleoside binding	GO:0001882	2.21
ATP binding	GO:0005524	2.43
GTP binding	GO:0005525	3.78
translation factor activity, RNA binding	GO:0008135	5.07
purine nucleoside binding	GO:0001883	2.22
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
isomerase activity	GO:0016853	4.62
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
guanyl nucleotide binding	GO:0019001	3.73
adenyl ribonucleotide binding	GO:0032559	2.41
RNA binding	GO:0003723	2.36
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
translation initiation factor activity	GO:0003743	5.7