Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8893
Gene name	Eukaryotic translation initiation factor 2B subunit epsilon
Gene symbol	EIF2B5
Synonyms (NCBI Gene)	CACHCLEEIF-2BEIF2BepsilonLVWMVWM5
Chromosome	3
Chromosome location	3q27.1
Summary	This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other E

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28937596	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs113994049	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, missense variant
rs113994050	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, missense variant
rs113994053	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, missense variant
rs113994054	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, missense variant
rs113994055	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, missense variant
rs113994060	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs113994061	G>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs113994063	C>G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs113994064	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs113994068	C>A,T	Pathogenic	Non coding transcript variant, missense variant, synonymous variant, coding sequence variant
rs113994069	G>A,C,T	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs113994074	G>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs113994080	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397514646	G>A,C,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs749256406	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs907041830	A>G,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs958193703	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, upstream transcript variant, 5 prime UTR variant, missense variant
rs1057521084	T>C	Likely-pathogenic	5 prime UTR variant, missense variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs1064794256	T>C	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1064795263	A>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1553807905	GCA>CC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1560108537	C>G,T	Likely-pathogenic	Non coding transcript variant, missense variant, stop gained, coding sequence variant

245

Show/Hide all (245)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020497	hsa-miR-155-5p	Proteomics	18668040
MIRT031470	hsa-miR-16-5p	Proteomics	18668040
MIRT036792	hsa-miR-760	CLASH	23622248
MIRT719316	hsa-miR-320a	HITS-CLIP	19536157
MIRT719315	hsa-miR-320b	HITS-CLIP	19536157
MIRT719314	hsa-miR-320c	HITS-CLIP	19536157
MIRT719313	hsa-miR-320d	HITS-CLIP	19536157
MIRT719312	hsa-miR-4429	HITS-CLIP	19536157
MIRT719311	hsa-miR-1203	HITS-CLIP	19536157
MIRT719310	hsa-miR-4326	HITS-CLIP	19536157
MIRT719309	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT719308	hsa-miR-6780a-3p	HITS-CLIP	19536157
MIRT719307	hsa-miR-6881-3p	HITS-CLIP	19536157
MIRT611781	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT611780	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT611779	hsa-miR-1247-5p	HITS-CLIP	23824327
MIRT611778	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611777	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611776	hsa-miR-4469	HITS-CLIP	23824327
MIRT611775	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611774	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611781	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT611780	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT611779	hsa-miR-1247-5p	HITS-CLIP	23824327
MIRT611778	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611777	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611776	hsa-miR-4469	HITS-CLIP	23824327
MIRT611775	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611774	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611781	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT611780	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT611779	hsa-miR-1247-5p	HITS-CLIP	23824327
MIRT611778	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611777	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611776	hsa-miR-4469	HITS-CLIP	23824327
MIRT611775	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611774	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611781	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT611780	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT611779	hsa-miR-1247-5p	HITS-CLIP	23824327
MIRT611778	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611777	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611776	hsa-miR-4469	HITS-CLIP	23824327
MIRT611775	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611774	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611781	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT611780	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT611779	hsa-miR-1247-5p	HITS-CLIP	23824327
MIRT611778	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611777	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611776	hsa-miR-4469	HITS-CLIP	23824327
MIRT611775	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611774	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611781	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT611780	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT611779	hsa-miR-1247-5p	HITS-CLIP	23824327
MIRT611778	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611777	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611776	hsa-miR-4469	HITS-CLIP	23824327
MIRT611775	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611774	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611781	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT611780	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT611779	hsa-miR-1247-5p	HITS-CLIP	23824327
MIRT611778	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611777	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611776	hsa-miR-4469	HITS-CLIP	23824327
MIRT611775	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611774	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611781	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT611780	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT611779	hsa-miR-1247-5p	HITS-CLIP	23824327
MIRT611778	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611777	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611776	hsa-miR-4469	HITS-CLIP	23824327
MIRT611775	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611774	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611781	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT611780	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT611779	hsa-miR-1247-5p	HITS-CLIP	23824327
MIRT611778	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611777	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611776	hsa-miR-4469	HITS-CLIP	23824327
MIRT611775	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611774	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611781	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT611780	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT611779	hsa-miR-1247-5p	HITS-CLIP	23824327
MIRT611778	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611777	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611776	hsa-miR-4469	HITS-CLIP	23824327
MIRT611775	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611774	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT440740	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440740	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT719316	hsa-miR-320a	HITS-CLIP	19536157
MIRT719315	hsa-miR-320b	HITS-CLIP	19536157
MIRT719314	hsa-miR-320c	HITS-CLIP	19536157
MIRT719313	hsa-miR-320d	HITS-CLIP	19536157
MIRT719312	hsa-miR-4429	HITS-CLIP	19536157
MIRT719311	hsa-miR-1203	HITS-CLIP	19536157
MIRT719310	hsa-miR-4326	HITS-CLIP	19536157
MIRT719309	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT719308	hsa-miR-6780a-3p	HITS-CLIP	19536157
MIRT719307	hsa-miR-6881-3p	HITS-CLIP	19536157
MIRT611781	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT611780	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT611779	hsa-miR-1247-5p	HITS-CLIP	23824327
MIRT611778	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611777	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611776	hsa-miR-4469	HITS-CLIP	23824327
MIRT611775	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611774	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611781	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT611780	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT611779	hsa-miR-1247-5p	HITS-CLIP	23824327
MIRT611778	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611777	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611776	hsa-miR-4469	HITS-CLIP	23824327
MIRT611775	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611774	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611781	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT611780	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT611779	hsa-miR-1247-5p	HITS-CLIP	23824327
MIRT611778	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611777	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611776	hsa-miR-4469	HITS-CLIP	23824327
MIRT611775	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611774	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611781	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT611780	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT611779	hsa-miR-1247-5p	HITS-CLIP	23824327
MIRT611778	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611777	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611776	hsa-miR-4469	HITS-CLIP	23824327
MIRT611775	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611774	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611781	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT611780	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT611779	hsa-miR-1247-5p	HITS-CLIP	23824327
MIRT611778	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611777	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611776	hsa-miR-4469	HITS-CLIP	23824327
MIRT611775	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611774	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611781	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT611780	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT611779	hsa-miR-1247-5p	HITS-CLIP	23824327
MIRT611778	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611777	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611776	hsa-miR-4469	HITS-CLIP	23824327
MIRT611775	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611774	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611781	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT611780	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT611779	hsa-miR-1247-5p	HITS-CLIP	23824327
MIRT611778	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611777	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611776	hsa-miR-4469	HITS-CLIP	23824327
MIRT611775	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611774	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611781	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT611780	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT611779	hsa-miR-1247-5p	HITS-CLIP	23824327
MIRT611778	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611777	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611776	hsa-miR-4469	HITS-CLIP	23824327
MIRT611775	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611774	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611781	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT611780	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT611779	hsa-miR-1247-5p	HITS-CLIP	23824327
MIRT611778	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611777	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611776	hsa-miR-4469	HITS-CLIP	23824327
MIRT611775	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611774	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611781	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT611780	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT611779	hsa-miR-1247-5p	HITS-CLIP	23824327
MIRT611778	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT611777	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT611776	hsa-miR-4469	HITS-CLIP	23824327
MIRT611775	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT611774	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT2218552	hsa-miR-1183	CLIP-seq
MIRT2218553	hsa-miR-186	CLIP-seq
MIRT2218554	hsa-miR-1909	CLIP-seq
MIRT2218555	hsa-miR-200b	CLIP-seq
MIRT2218556	hsa-miR-200c	CLIP-seq
MIRT2218557	hsa-miR-2392	CLIP-seq
MIRT2218558	hsa-miR-2682	CLIP-seq
MIRT2218559	hsa-miR-3153	CLIP-seq
MIRT2218560	hsa-miR-3612	CLIP-seq
MIRT2218561	hsa-miR-3689a-3p	CLIP-seq
MIRT2218562	hsa-miR-3689c	CLIP-seq
MIRT2218563	hsa-miR-4268	CLIP-seq
MIRT2218564	hsa-miR-429	CLIP-seq
MIRT2218565	hsa-miR-449c	CLIP-seq
MIRT2218566	hsa-miR-4690-5p	CLIP-seq
MIRT2218567	hsa-miR-4717-3p	CLIP-seq
MIRT2218568	hsa-miR-4728-5p	CLIP-seq
MIRT2218569	hsa-miR-621	CLIP-seq
MIRT2218570	hsa-miR-650	CLIP-seq
MIRT2218552	hsa-miR-1183	CLIP-seq
MIRT2218553	hsa-miR-186	CLIP-seq
MIRT2218554	hsa-miR-1909	CLIP-seq
MIRT2218555	hsa-miR-200b	CLIP-seq
MIRT2218556	hsa-miR-200c	CLIP-seq
MIRT2218557	hsa-miR-2392	CLIP-seq
MIRT2218559	hsa-miR-3153	CLIP-seq
MIRT2218560	hsa-miR-3612	CLIP-seq
MIRT2218561	hsa-miR-3689a-3p	CLIP-seq
MIRT2218562	hsa-miR-3689c	CLIP-seq
MIRT2522036	hsa-miR-3692	CLIP-seq
MIRT2218563	hsa-miR-4268	CLIP-seq
MIRT2218564	hsa-miR-429	CLIP-seq
MIRT2522037	hsa-miR-4448	CLIP-seq
MIRT2218566	hsa-miR-4690-5p	CLIP-seq
MIRT2522038	hsa-miR-4703-3p	CLIP-seq
MIRT2218567	hsa-miR-4717-3p	CLIP-seq
MIRT2218568	hsa-miR-4728-5p	CLIP-seq
MIRT2522039	hsa-miR-4733-5p	CLIP-seq
MIRT2218569	hsa-miR-621	CLIP-seq
MIRT2218570	hsa-miR-650	CLIP-seq
MIRT2522040	hsa-miR-767-3p	CLIP-seq
MIRT2218552	hsa-miR-1183	CLIP-seq
MIRT2218553	hsa-miR-186	CLIP-seq
MIRT2218554	hsa-miR-1909	CLIP-seq
MIRT2218555	hsa-miR-200b	CLIP-seq
MIRT2218556	hsa-miR-200c	CLIP-seq
MIRT2218557	hsa-miR-2392	CLIP-seq
MIRT2218559	hsa-miR-3153	CLIP-seq
MIRT2218560	hsa-miR-3612	CLIP-seq
MIRT2218561	hsa-miR-3689a-3p	CLIP-seq
MIRT2218562	hsa-miR-3689c	CLIP-seq
MIRT2522036	hsa-miR-3692	CLIP-seq
MIRT2218564	hsa-miR-429	CLIP-seq
MIRT2218566	hsa-miR-4690-5p	CLIP-seq
MIRT2522038	hsa-miR-4703-3p	CLIP-seq
MIRT2218567	hsa-miR-4717-3p	CLIP-seq
MIRT2218568	hsa-miR-4728-5p	CLIP-seq
MIRT2522039	hsa-miR-4733-5p	CLIP-seq
MIRT2218569	hsa-miR-621	CLIP-seq
MIRT2218570	hsa-miR-650	CLIP-seq

Show/Hide all (46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001541	Process	Ovarian follicle development	IMP	15507143
GO:0002183	Process	Cytoplasmic translational initiation	IDA	27023709
GO:0003743	Function	Translation initiation factor activity	IDA	16289705
GO:0003743	Function	Translation initiation factor activity	IEA
GO:0003743	Function	Translation initiation factor activity	NAS	8688466
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	11323413
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	25858979, 27023709
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IMP	15054402
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	ISS
GO:0005515	Function	Protein binding	IPI	10481074, 15060152, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IDA	12426392
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IDA	11323413, 12426392
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005851	Component	Eukaryotic translation initiation factor 2B complex	IBA
GO:0005851	Component	Eukaryotic translation initiation factor 2B complex	IDA	11323413, 15060152, 27023709
GO:0005851	Component	Eukaryotic translation initiation factor 2B complex	IEA
GO:0006412	Process	Translation	IEA
GO:0006413	Process	Translational initiation	IDA	16289705
GO:0006413	Process	Translational initiation	IEA
GO:0009408	Process	Response to heat	IEA
GO:0009408	Process	Response to heat	IMP	15723074
GO:0009408	Process	Response to heat	ISS
GO:0009408	Process	Response to heat	TAS	12499492
GO:0009749	Process	Response to glucose	IEA
GO:0009749	Process	Response to glucose	ISS
GO:0014002	Process	Astrocyte development	IMP	15723074
GO:0014003	Process	Oligodendrocyte development	IMP	15217090
GO:0021766	Process	Hippocampus development	IEA
GO:0031369	Function	Translation initiation factor binding	IBA
GO:0031369	Function	Translation initiation factor binding	IEA
GO:0031369	Function	Translation initiation factor binding	ISS
GO:0034976	Process	Response to endoplasmic reticulum stress	IMP	16041584
GO:0042552	Process	Myelination	IMP	14566705, 15723074
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043434	Process	Response to peptide hormone	IEA
GO:0043434	Process	Response to peptide hormone	ISS
GO:0045727	Process	Positive regulation of translation	IEA
GO:0045948	Process	Positive regulation of translational initiation	ISS
GO:0048708	Process	Astrocyte differentiation	IMP	15723074
GO:0050852	Process	T cell receptor signaling pathway	IDA	8626696

MIM	HGNC	e!Ensembl
603945	3261	ENSG00000145191

Q13144

Protein name

Translation initiation factor eIF2B subunit epsilon (eIF2B GDP-GTP exchange factor subunit epsilon)

Protein function

Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucl

PDB

3JUI , 6CAJ , 6EZO , 6K71 , 6K72 , 6O81 , 6O85 , 6O9Z , 7D43 , 7D44 , 7D45 , 7D46 , 7F64 , 7F66 , 7F67 , 7KMF , 7L70 , 7L7G , 7RLO , 7TRJ , 7VLK , 8TQO , 8TQZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00132	Hexapep	365 → 393	Bacterial transferase hexapeptide (six repeats)	Repeat
PF02020	W2	641 → 720	eIF4-gamma/eIF5/eIF2-epsilon	Family

Sequence

MAAPVVAPPGVVVSRANKRSGAGPGGSGGGGARGAEEEPPPPLQAVLVADSFDRRFFPIS
KDQPRVLLPLANVALIDYTLEFLTATGVQETFVFCCWKAAQIKEHLLKSKWCRPTSLNVV
RIITSELYRSLGDVLRDVDAKALVRSDFLLVYGDVISNINITRALEEHRLRRKLEKNVSV
MTMIFKESSPSHPTRCHEDNVVVAVDSTTNRVLHFQKTQGLRRFAFPLSLFQGSSDGVEV
RYDLLDCHISICSPQVAQLFTDNFDYQTRDDFVRGLLVNEEILGNQIHMHVTAKEYGARV
SNLHMYSAVCADVIRRWVYPLTPEANFTDSTTQSCTHSRHNIYRGPEVSLGHGSILEENV
LLGSGTVIGSNCFITNSVIGPGCHIGDNVVLDQTYLWQGVRVAAGAQIHQSLLCDNAEVK
ERVTLKPRSVLTSQVVVGPNITLPEGSVISLHPPDAEEDEDDGEFSDDSGADQEKDKVKM
KGYNPAEVGAAGKGYLWKAAGMNMEEEEELQQNLWGLKINMEEESESESEQSMDSEEPDS
RGGSPQMDDIKVFQNEVLGTLQRGKEENISCDNLVLEINSLKYAYNISLKEVMQVLSHVV
LEFPLQQMDSPLDSSRYCALLLPLLKAWSPVFRNYIKRAADHLEALAAIEDFFLEHEALG
ISMAKVLMAFYQLEILAEETILSWFSQRDTTDKGQQLRKNQQLQRFIQWLKEAEEESSED
D

Sequence length

721

Interactions

View interactions

	KEGG		Reactome
	Herpes simplex virus 1 infection		Recycling of eIF2:GDP

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
EIF2B5-related disorder	Likely pathogenic; Pathogenic	rs113994044, rs113994048, rs113994049, rs958193703	RCV003418251 RCV004755790 RCV004755715 RCV003928634	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary breast ovarian cancer syndrome	Likely pathogenic; Pathogenic	rs113994057	RCV004526089	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukodystrophy	Pathogenic	rs113994063	RCV005622019	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukoencephalopathy with vanishing white matter 1	Pathogenic; Likely pathogenic	rs113994048, rs113994054, rs113994060, rs113994057	RCV004576925 RCV005644475 RCV003338578 RCV003389333	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukoencephalopathy with vanishing white matter 5	Likely pathogenic; Pathogenic	rs1312772215, rs200143780, rs113994078, rs113994044, rs113994048, rs760254122, rs28939717, rs28937596, rs113994074, rs113994049, rs113994054, rs113994061, rs113994055, rs113994053, rs113994064 View all (9 more)	RCV005038186 RCV005023189 RCV003883470 RCV005031995 RCV005031708 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarioleukodystrophy	Likely pathogenic	rs113994082	RCV002275696	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vanishing white matter disease	Pathogenic; Likely pathogenic	rs753507995, rs200143780, rs113994078, rs2109012187, rs113994079, rs962701773, rs113994082, rs113994076, rs113994048, rs28939717, rs113994049, rs113994054, rs113994061, rs113994053, rs113994064 View all (16 more)	RCV001329782 RCV002246422 RCV001827511 RCV001806431 RCV005406233 View all (28 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cervical cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL OR EARLY INFANTILE CACH SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CREE LEUKOENCEPHALOPATHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukoencephalopathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VANISHING WHITE MATTER LEUKODYSTROPHY WITH OVARIAN FAILURE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (76)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	24366584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	30148164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	32293553	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	30745462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	19048617, 30673741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30897708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31023849		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	32293553	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	32293553	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chilblains	Chilblain lesions	BEFREE	30148164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	CLINVAR_DG	11704758, 12325082, 12707859, 15060152, 15136673, 20975056, 21560189, 22699478, 22952606, 24938145		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	GENOMICS_ENGLAND_DG	11704758, 12325082, 12707859, 19158808, 24357685		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	UNIPROT_DG	11704758, 12325082, 12707859, 15776425, 19158808, 21484434		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	BEFREE	12325082, 15136690, 15723074, 16998732, 20016818, 20958979, 25457085, 25758335, 30673741		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	ORPHANET_DG	15136673		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	29933914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cree leukoencephalopathy	Cree Leukoencephalopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	30849396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	30745462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	27892610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	30148164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32293553	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28253288	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28253288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	18266750	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	29270816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	32293553	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	28961236	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	28961236	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	GENOMICS_ENGLAND_DG	603896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	30745462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Late infantile CACH syndrome	CACH Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	20016818		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukodystrophy	Leukodystrophy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	18519871, 28914269	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	15136689, 16998732, 18678442		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	BEFREE	31023849		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Cutaneous	Lupus Erythematosus	BEFREE	30745462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	30745462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30897708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30538549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31023849		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20103664, 30538549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	32293553	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	12707859, 16807905, 20838246, 25089094, 9710032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17439913, 26671108, 28093708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30151887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30538549, 31685988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	22699478	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	23335982, 32293553	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20103664, 32000373	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36100884	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
OVARIOLEUKODYSTROPHY	Ovarioleukodystrophy	CTD_human_DG	12707859		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OVARIOLEUKODYSTROPHY	Ovarioleukodystrophy	ORPHANET_DG	15136673		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarioleukodystrophy	Ovarioleukodystrophy	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OVARIOLEUKODYSTROPHY	Ovarioleukodystrophy	BEFREE	22699478		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OVARIOLEUKODYSTROPHY	Ovarioleukodystrophy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22275514	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	16864840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	16864840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	GENOMICS_ENGLAND_DG	603896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29270816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	30148164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vanishing White Matter Leukodystrophy with Ovarian Failure	Vanishing white matter disease	Pubtator	20430848, 22699478, 33245593	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon)