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

220

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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
Hereditary breast ovarian cancer syndrome	Likely pathogenic; Pathogenic	rs113994057	RCV004526089
Leukodystrophy	Pathogenic	rs113994063	RCV005622019
Leukoencephalopathy with vanishing white matter 1	Pathogenic; Likely pathogenic	rs113994048, rs113994054, rs113994060, rs113994057	RCV004576925 RCV005644475 RCV003338578 RCV003389333
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 RCV005027970 RCV003221408 RCV003221409 RCV003221410 RCV003221411 RCV003221412 RCV003221413 RCV003221414 RCV003221415 RCV003221416 RCV003221418 RCV005030112 RCV003883483 RCV005034016 RCV003221419 RCV005870821 RCV003325978 RCV003493800 RCV005029769
Ovarioleukodystrophy	Likely pathogenic	rs113994082	RCV002275696
See cases	Likely pathogenic; Pathogenic	rs2109008895, rs113994049	RCV001420330 RCV001420331
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 RCV002249932 RCV002275696 RCV002470467 RCV000175759 RCV000006305 RCV000006308 RCV000006310 RCV000006311 RCV003485519 RCV000006314 RCV003223440 RCV001833341 RCV003486489 RCV001275519 RCV000853416 RCV000763510 RCV000722109 RCV002283510 RCV000853415 RCV000853414 RCV000853417 RCV000987370 RCV000987371 RCV001004169 RCV001833698 RCV001199402 RCV002471047 RCV001253525

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Uncertain significance	rs541227484	RCV005924293
Leukoencephalopathy	Uncertain significance	rs138049080	RCV000626852
Melanoma	Likely benign	rs774156834	RCV005935072
Sarcoma	Uncertain significance	rs1171745993	RCV005930484

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alcohol Related Disorders	Associate	18519871
Ataxia	Associate	32293553
Central Nervous System Diseases	Associate	32293553
Cerebellar Hypoplasia	Associate	32293553
Cysts	Associate	32293553
Developmental Disabilities	Associate	32293553
Diabetes Mellitus Type 2	Associate	28253288
Dysuria	Associate	37981684
Epilepsies Myoclonic	Associate	18266750
Genetic Diseases Inborn	Associate	35012964
Growth Disorders	Associate	32293553
Head and Neck Neoplasms	Associate	28961236
Hypoxia	Associate	28961236
Leukodystrophy Metachromatic	Associate	18519871, 28914269
Leukoencephalopathies	Associate	18266750, 22238342, 22238343, 22699478, 23335982, 26112719, 28334938, 31438897, 32293553, 33432707, 37981684
Microcephaly	Associate	32293553
Neoplasm Metastasis	Associate	36100884
Neoplasms	Associate	20103664, 28961236, 32000373, 36100884
Neoplasms Cystic Mucinous and Serous	Associate	37981684
Nervous System Diseases	Associate	22699478
Neurodegenerative Diseases	Associate	23335982, 32293553
Neurologic Manifestations	Associate	22238342
Ovarian Neoplasms	Associate	20103664, 32000373
Ovarian Neoplasms	Inhibit	36100884
Pancreatic Neoplasms	Associate	22275514
Vanishing White Matter Leukodystrophy with Ovarian Failure	Associate	20430848, 22699478, 33245593

EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon)