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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8893
Gene name Gene Name - the full gene name approved by the HGNC.	Eukaryotic translation initiation factor 2B subunit epsilon
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	EIF2B5
Synonyms (NCBI Gene) Gene synonyms aliases	CACH, CLE, EIF-2B, EIF2Bepsilon, LVWM, VWM5
Disease Acronyms (UniProt) Disease acronyms from UniProt database	VWM5
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3q27.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(23)

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

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(31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001541	Process	Ovarian follicle development	IMP	15507143
GO:0003743	Function	Translation initiation factor activity	IDA	16289705
GO:0003743	Function	Translation initiation factor activity	NAS	8688466
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA	21873635
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	11323413
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
GO:0005634	Component	Nucleus	IDA	12426392
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IDA	11323413, 12426392
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005851	Component	Eukaryotic translation initiation factor 2B complex	IBA	21873635
GO:0005851	Component	Eukaryotic translation initiation factor 2B complex	IDA	11323413, 15060152
GO:0006413	Process	Translational initiation	IDA	16289705
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	ISS
GO:0014002	Process	Astrocyte development	IMP	15723074
GO:0014003	Process	Oligodendrocyte development	IMP	15217090
GO:0031369	Function	Translation initiation factor binding	IBA	21873635
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:0043434	Process	Response to peptide hormone	ISS
GO:0045948	Process	Positive regulation of translational initiation	ISS
GO:0048708	Process	Astrocyte differentiation	IMP	15723074
GO:0050790	Process	Regulation of catalytic activity	IEA
GO:0050852	Process	T cell receptor signaling pathway	IDA	8626696

MIM	HGNC	e!Ensembl
603945	3261	ENSG00000145191

Protein

UniProt ID

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

Show/Hide Causal Diseases (8)

Disease term	Disease name	dbSNP ID	References
Causal
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887	603896
Developmental regression	Developmental regression	rs1224421127
Leukodystrophy	Leukodystrophy	rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604 View all (6 more)
Leukoencephalopathy	Leukoencephalopathy	rs34757931
Leukoencephalopathy with vanishing white matter	Childhood Ataxia with Central Nervous System Hypomyelinization	rs113994033, rs113994037, rs113994027, rs113994038, rs113994040, rs104894425, rs104894426, rs104894427, rs104894428, rs113994014, rs113994024, rs113994026, rs113994022, rs119474039, rs28939717 View all (26 more)	12325082, 12707859, 15776425, 15060152, 21560189, 24938145, 11704758, 19158808, 24357685, 20975056, 22952606, 21484434, 15136673, 22699478
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370 View all (5 more)	24366584
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text Mining
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)