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	1967
Gene name	Eukaryotic translation initiation factor 2B subunit alpha
Gene symbol	EIF2B1
Synonyms (NCBI Gene)	EIF2BEIF2BAEIF2BalphaVWM1
Chromosome	12
Chromosome location	12q24.31
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
rs113994006	C>T	Pathogenic, uncertain-significance	Splice donor variant
rs113994007	T>A	Pathogenic	Coding sequence variant, missense variant
rs148714712	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs758746181	T>C	Pathogenic	Missense variant, coding sequence variant
rs863225048	C>A	Pathogenic	Missense variant, coding sequence variant
rs863225049	G>C	Pathogenic	Missense variant, coding sequence variant
rs863225050	T>C	Pathogenic	Missense variant, coding sequence variant
rs863225051	TCC>-	Pathogenic	Inframe deletion, coding sequence variant
rs863225052	A>C,G	Pathogenic	Missense variant, coding sequence variant

300

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miRTarBase ID	miRNA	Experiments	Reference
MIRT028525	hsa-miR-30a-5p	Proteomics	18668040
MIRT029246	hsa-miR-26b-5p	Microarray	19088304
MIRT046139	hsa-miR-30b-5p	CLASH	23622248
MIRT036393	hsa-miR-1228-3p	CLASH	23622248
MIRT508636	hsa-miR-99a-3p	HITS-CLIP	21572407
MIRT508635	hsa-miR-99b-3p	HITS-CLIP	21572407
MIRT508634	hsa-miR-6796-3p	HITS-CLIP	21572407
MIRT508633	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT508632	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT508631	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT508630	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT508636	hsa-miR-99a-3p	HITS-CLIP	21572407
MIRT508635	hsa-miR-99b-3p	HITS-CLIP	21572407
MIRT508634	hsa-miR-6796-3p	HITS-CLIP	21572407
MIRT508633	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT508632	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT508631	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT508630	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT508636	hsa-miR-99a-3p	HITS-CLIP	22927820
MIRT508635	hsa-miR-99b-3p	HITS-CLIP	22927820
MIRT508634	hsa-miR-6796-3p	HITS-CLIP	22927820
MIRT508633	hsa-miR-410-3p	HITS-CLIP	22927820
MIRT508632	hsa-miR-5011-5p	HITS-CLIP	22927820
MIRT508631	hsa-miR-190a-3p	HITS-CLIP	22927820
MIRT508630	hsa-miR-1277-5p	HITS-CLIP	22927820
MIRT508636	hsa-miR-99a-3p	HITS-CLIP	23313552
MIRT508635	hsa-miR-99b-3p	HITS-CLIP	23313552
MIRT508634	hsa-miR-6796-3p	HITS-CLIP	23313552
MIRT508633	hsa-miR-410-3p	HITS-CLIP	23313552
MIRT508632	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT508631	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT508630	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT508636	hsa-miR-99a-3p	HITS-CLIP	23313552
MIRT508635	hsa-miR-99b-3p	HITS-CLIP	23313552
MIRT508634	hsa-miR-6796-3p	HITS-CLIP	23313552
MIRT508633	hsa-miR-410-3p	HITS-CLIP	23313552
MIRT508632	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT508631	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT508630	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT508636	hsa-miR-99a-3p	PAR-CLIP	21572407
MIRT508635	hsa-miR-99b-3p	PAR-CLIP	21572407
MIRT508634	hsa-miR-6796-3p	PAR-CLIP	21572407
MIRT550253	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT508633	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT508632	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT550252	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT508631	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT550251	hsa-miR-493-5p	PAR-CLIP	21572407
MIRT508630	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508636	hsa-miR-99a-3p	PAR-CLIP	23446348
MIRT508635	hsa-miR-99b-3p	PAR-CLIP	23446348
MIRT508634	hsa-miR-6796-3p	PAR-CLIP	23446348
MIRT508633	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT508632	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508631	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT508630	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT440741	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440741	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT508636	hsa-miR-99a-3p	HITS-CLIP	21572407
MIRT508635	hsa-miR-99b-3p	HITS-CLIP	21572407
MIRT508634	hsa-miR-6796-3p	HITS-CLIP	21572407
MIRT508633	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT508632	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT508631	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT508630	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT508636	hsa-miR-99a-3p	HITS-CLIP	21572407
MIRT508635	hsa-miR-99b-3p	HITS-CLIP	21572407
MIRT508634	hsa-miR-6796-3p	HITS-CLIP	21572407
MIRT508633	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT508632	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT508631	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT508630	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT508636	hsa-miR-99a-3p	HITS-CLIP	22927820
MIRT508635	hsa-miR-99b-3p	HITS-CLIP	22927820
MIRT508634	hsa-miR-6796-3p	HITS-CLIP	22927820
MIRT508633	hsa-miR-410-3p	HITS-CLIP	22927820
MIRT508632	hsa-miR-5011-5p	HITS-CLIP	22927820
MIRT508631	hsa-miR-190a-3p	HITS-CLIP	22927820
MIRT508630	hsa-miR-1277-5p	HITS-CLIP	22927820
MIRT508636	hsa-miR-99a-3p	HITS-CLIP	23313552
MIRT508635	hsa-miR-99b-3p	HITS-CLIP	23313552
MIRT508634	hsa-miR-6796-3p	HITS-CLIP	23313552
MIRT508633	hsa-miR-410-3p	HITS-CLIP	23313552
MIRT508632	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT508631	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT508630	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT508636	hsa-miR-99a-3p	HITS-CLIP	23313552
MIRT508635	hsa-miR-99b-3p	HITS-CLIP	23313552
MIRT508634	hsa-miR-6796-3p	HITS-CLIP	23313552
MIRT508633	hsa-miR-410-3p	HITS-CLIP	23313552
MIRT508632	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT508631	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT508630	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT508636	hsa-miR-99a-3p	PAR-CLIP	21572407
MIRT508635	hsa-miR-99b-3p	PAR-CLIP	21572407
MIRT508634	hsa-miR-6796-3p	PAR-CLIP	21572407
MIRT550253	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT508633	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT508632	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT550252	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT508631	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT550251	hsa-miR-493-5p	PAR-CLIP	21572407
MIRT508630	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508636	hsa-miR-99a-3p	PAR-CLIP	23446348
MIRT508635	hsa-miR-99b-3p	PAR-CLIP	23446348
MIRT508634	hsa-miR-6796-3p	PAR-CLIP	23446348
MIRT508633	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT508632	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508631	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT508630	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT956694	hsa-miR-1	CLIP-seq
MIRT956695	hsa-miR-1207-5p	CLIP-seq
MIRT956696	hsa-miR-1238	CLIP-seq
MIRT956697	hsa-miR-200b	CLIP-seq
MIRT956698	hsa-miR-200c	CLIP-seq
MIRT956699	hsa-miR-203	CLIP-seq
MIRT956700	hsa-miR-206	CLIP-seq
MIRT956701	hsa-miR-2117	CLIP-seq
MIRT956702	hsa-miR-298	CLIP-seq
MIRT956703	hsa-miR-3130-3p	CLIP-seq
MIRT956704	hsa-miR-3171	CLIP-seq
MIRT956705	hsa-miR-3180-5p	CLIP-seq
MIRT956706	hsa-miR-3667-3p	CLIP-seq
MIRT956707	hsa-miR-3676	CLIP-seq
MIRT956708	hsa-miR-370	CLIP-seq
MIRT956709	hsa-miR-3910	CLIP-seq
MIRT956710	hsa-miR-3915	CLIP-seq
MIRT956711	hsa-miR-3928	CLIP-seq
MIRT956712	hsa-miR-4273	CLIP-seq
MIRT956713	hsa-miR-429	CLIP-seq
MIRT956714	hsa-miR-4297	CLIP-seq
MIRT956715	hsa-miR-4328	CLIP-seq
MIRT956716	hsa-miR-4503	CLIP-seq
MIRT956717	hsa-miR-4519	CLIP-seq
MIRT956718	hsa-miR-452	CLIP-seq
MIRT956719	hsa-miR-4639-5p	CLIP-seq
MIRT956720	hsa-miR-4663	CLIP-seq
MIRT956721	hsa-miR-4676-3p	CLIP-seq
MIRT956722	hsa-miR-4727-5p	CLIP-seq
MIRT956723	hsa-miR-4736	CLIP-seq
MIRT956724	hsa-miR-4753-3p	CLIP-seq
MIRT956725	hsa-miR-4763-3p	CLIP-seq
MIRT956726	hsa-miR-515-5p	CLIP-seq
MIRT956727	hsa-miR-520a-5p	CLIP-seq
MIRT956728	hsa-miR-520d-5p	CLIP-seq
MIRT956729	hsa-miR-524-5p	CLIP-seq
MIRT956730	hsa-miR-525-5p	CLIP-seq
MIRT956731	hsa-miR-544	CLIP-seq
MIRT956732	hsa-miR-613	CLIP-seq
MIRT956733	hsa-miR-640	CLIP-seq
MIRT956697	hsa-miR-200b	CLIP-seq
MIRT956698	hsa-miR-200c	CLIP-seq
MIRT956699	hsa-miR-203	CLIP-seq
MIRT956704	hsa-miR-3171	CLIP-seq
MIRT1983323	hsa-miR-3199	CLIP-seq
MIRT956713	hsa-miR-429	CLIP-seq
MIRT956716	hsa-miR-4503	CLIP-seq
MIRT956717	hsa-miR-4519	CLIP-seq
MIRT956718	hsa-miR-452	CLIP-seq
MIRT956719	hsa-miR-4639-5p	CLIP-seq
MIRT956721	hsa-miR-4676-3p	CLIP-seq
MIRT1983324	hsa-miR-4740-5p	CLIP-seq
MIRT1983325	hsa-miR-4760-5p	CLIP-seq
MIRT956726	hsa-miR-515-5p	CLIP-seq
MIRT1983326	hsa-miR-550b	CLIP-seq
MIRT1983327	hsa-miR-642b	CLIP-seq
MIRT2218522	hsa-miR-122	CLIP-seq
MIRT2218523	hsa-miR-1587	CLIP-seq
MIRT2218524	hsa-miR-1909	CLIP-seq
MIRT956697	hsa-miR-200b	CLIP-seq
MIRT956698	hsa-miR-200c	CLIP-seq
MIRT956699	hsa-miR-203	CLIP-seq
MIRT956702	hsa-miR-298	CLIP-seq
MIRT956704	hsa-miR-3171	CLIP-seq
MIRT1983323	hsa-miR-3199	CLIP-seq
MIRT2218525	hsa-miR-3605-5p	CLIP-seq
MIRT2218526	hsa-miR-3620	CLIP-seq
MIRT2218527	hsa-miR-3680	CLIP-seq
MIRT956713	hsa-miR-429	CLIP-seq
MIRT2218528	hsa-miR-4437	CLIP-seq
MIRT956716	hsa-miR-4503	CLIP-seq
MIRT956717	hsa-miR-4519	CLIP-seq
MIRT956718	hsa-miR-452	CLIP-seq
MIRT956719	hsa-miR-4639-5p	CLIP-seq
MIRT2218529	hsa-miR-4674	CLIP-seq
MIRT956721	hsa-miR-4676-3p	CLIP-seq
MIRT1983324	hsa-miR-4740-5p	CLIP-seq
MIRT1983325	hsa-miR-4760-5p	CLIP-seq
MIRT2218530	hsa-miR-4798-3p	CLIP-seq
MIRT956726	hsa-miR-515-5p	CLIP-seq
MIRT2218531	hsa-miR-516b	CLIP-seq
MIRT2218532	hsa-miR-552	CLIP-seq
MIRT2218533	hsa-miR-622	CLIP-seq
MIRT2218534	hsa-miR-635	CLIP-seq
MIRT1983327	hsa-miR-642b	CLIP-seq
MIRT956699	hsa-miR-203	CLIP-seq
MIRT1983323	hsa-miR-3199	CLIP-seq
MIRT1983324	hsa-miR-4740-5p	CLIP-seq
MIRT1983325	hsa-miR-4760-5p	CLIP-seq
MIRT956726	hsa-miR-515-5p	CLIP-seq
MIRT1983327	hsa-miR-642b	CLIP-seq
MIRT956696	hsa-miR-1238	CLIP-seq
MIRT2521979	hsa-miR-1537	CLIP-seq
MIRT956697	hsa-miR-200b	CLIP-seq
MIRT956698	hsa-miR-200c	CLIP-seq
MIRT956699	hsa-miR-203	CLIP-seq
MIRT956701	hsa-miR-2117	CLIP-seq
MIRT956702	hsa-miR-298	CLIP-seq
MIRT2521980	hsa-miR-3145-5p	CLIP-seq
MIRT956704	hsa-miR-3171	CLIP-seq
MIRT956705	hsa-miR-3180-5p	CLIP-seq
MIRT1983323	hsa-miR-3199	CLIP-seq
MIRT2521981	hsa-miR-342-5p	CLIP-seq
MIRT2521982	hsa-miR-345	CLIP-seq
MIRT956706	hsa-miR-3667-3p	CLIP-seq
MIRT956707	hsa-miR-3676	CLIP-seq
MIRT2218527	hsa-miR-3680	CLIP-seq
MIRT2521983	hsa-miR-382	CLIP-seq
MIRT956709	hsa-miR-3910	CLIP-seq
MIRT2521984	hsa-miR-3941	CLIP-seq
MIRT2521985	hsa-miR-4259	CLIP-seq
MIRT2521986	hsa-miR-4264	CLIP-seq
MIRT956712	hsa-miR-4273	CLIP-seq
MIRT956713	hsa-miR-429	CLIP-seq
MIRT956714	hsa-miR-4297	CLIP-seq
MIRT956715	hsa-miR-4328	CLIP-seq
MIRT956716	hsa-miR-4503	CLIP-seq
MIRT2521987	hsa-miR-4511	CLIP-seq
MIRT956717	hsa-miR-4519	CLIP-seq
MIRT956718	hsa-miR-452	CLIP-seq
MIRT956719	hsa-miR-4639-5p	CLIP-seq
MIRT2521988	hsa-miR-4643	CLIP-seq
MIRT2521989	hsa-miR-4651	CLIP-seq
MIRT2521990	hsa-miR-466	CLIP-seq
MIRT2521991	hsa-miR-4664-5p	CLIP-seq
MIRT2521992	hsa-miR-4672	CLIP-seq
MIRT956721	hsa-miR-4676-3p	CLIP-seq
MIRT956722	hsa-miR-4727-5p	CLIP-seq
MIRT1983324	hsa-miR-4740-5p	CLIP-seq
MIRT956724	hsa-miR-4753-3p	CLIP-seq
MIRT1983325	hsa-miR-4760-5p	CLIP-seq
MIRT2521993	hsa-miR-4777-5p	CLIP-seq
MIRT2521994	hsa-miR-4789-3p	CLIP-seq
MIRT2521995	hsa-miR-4797-3p	CLIP-seq
MIRT2521996	hsa-miR-508-5p	CLIP-seq
MIRT956726	hsa-miR-515-5p	CLIP-seq
MIRT2521997	hsa-miR-518d-5p	CLIP-seq
MIRT2521998	hsa-miR-519b-5p	CLIP-seq
MIRT2521999	hsa-miR-519c-5p	CLIP-seq
MIRT956727	hsa-miR-520a-5p	CLIP-seq
MIRT2522000	hsa-miR-520c-5p	CLIP-seq
MIRT956728	hsa-miR-520d-5p	CLIP-seq
MIRT956729	hsa-miR-524-5p	CLIP-seq
MIRT956730	hsa-miR-525-5p	CLIP-seq
MIRT2522001	hsa-miR-526a	CLIP-seq
MIRT956731	hsa-miR-544	CLIP-seq
MIRT2522002	hsa-miR-548b-3p	CLIP-seq
MIRT1983326	hsa-miR-550b	CLIP-seq
MIRT2522003	hsa-miR-561	CLIP-seq
MIRT2522004	hsa-miR-608	CLIP-seq
MIRT1983327	hsa-miR-642b	CLIP-seq
MIRT956696	hsa-miR-1238	CLIP-seq
MIRT956697	hsa-miR-200b	CLIP-seq
MIRT956698	hsa-miR-200c	CLIP-seq
MIRT956699	hsa-miR-203	CLIP-seq
MIRT956702	hsa-miR-298	CLIP-seq
MIRT2521980	hsa-miR-3145-5p	CLIP-seq
MIRT956704	hsa-miR-3171	CLIP-seq
MIRT956705	hsa-miR-3180-5p	CLIP-seq
MIRT1983323	hsa-miR-3199	CLIP-seq
MIRT956706	hsa-miR-3667-3p	CLIP-seq
MIRT956707	hsa-miR-3676	CLIP-seq
MIRT956709	hsa-miR-3910	CLIP-seq
MIRT2521984	hsa-miR-3941	CLIP-seq
MIRT2521986	hsa-miR-4264	CLIP-seq
MIRT956713	hsa-miR-429	CLIP-seq
MIRT956714	hsa-miR-4297	CLIP-seq
MIRT956715	hsa-miR-4328	CLIP-seq
MIRT956716	hsa-miR-4503	CLIP-seq
MIRT956717	hsa-miR-4519	CLIP-seq
MIRT956718	hsa-miR-452	CLIP-seq
MIRT956719	hsa-miR-4639-5p	CLIP-seq
MIRT2521988	hsa-miR-4643	CLIP-seq
MIRT2521990	hsa-miR-466	CLIP-seq
MIRT2521992	hsa-miR-4672	CLIP-seq
MIRT956721	hsa-miR-4676-3p	CLIP-seq
MIRT956722	hsa-miR-4727-5p	CLIP-seq
MIRT1983324	hsa-miR-4740-5p	CLIP-seq
MIRT1983325	hsa-miR-4760-5p	CLIP-seq
MIRT2521994	hsa-miR-4789-3p	CLIP-seq
MIRT2521995	hsa-miR-4797-3p	CLIP-seq
MIRT2521996	hsa-miR-508-5p	CLIP-seq
MIRT956726	hsa-miR-515-5p	CLIP-seq
MIRT956727	hsa-miR-520a-5p	CLIP-seq
MIRT956728	hsa-miR-520d-5p	CLIP-seq
MIRT956729	hsa-miR-524-5p	CLIP-seq
MIRT956730	hsa-miR-525-5p	CLIP-seq
MIRT956731	hsa-miR-544	CLIP-seq
MIRT1983326	hsa-miR-550b	CLIP-seq
MIRT1983327	hsa-miR-642b	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002183	Process	Cytoplasmic translational initiation	IDA	27023709
GO:0003743	Function	Translation initiation factor activity	IBA
GO:0003743	Function	Translation initiation factor activity	IDA	16289705
GO:0003743	Function	Translation initiation factor activity	IEA
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:0005515	Function	Protein binding	IPI	9235896, 25416956, 29892012, 31515488, 32296183
GO:0005737	Component	Cytoplasm	IDA	9235896, 11323413
GO:0005737	Component	Cytoplasm	IEA
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:0005886	Component	Plasma membrane	IDA	9235896
GO:0006412	Process	Translation	IEA
GO:0006413	Process	Translational initiation	IBA
GO:0006413	Process	Translational initiation	IDA	16289705
GO:0006413	Process	Translational initiation	IEA
GO:0009408	Process	Response to heat	ISS
GO:0009408	Process	Response to heat	TAS
GO:0009749	Process	Response to glucose	ISS
GO:0014003	Process	Oligodendrocyte development	IMP	15217090
GO:0016020	Component	Membrane	IDA	9235896
GO:0042802	Function	Identical protein binding	IPI	25416956, 25502805, 31515488, 32296183
GO:0043434	Process	Response to peptide hormone	ISS
GO:0050852	Process	T cell receptor signaling pathway	IDA	8626696

MIM	HGNC	e!Ensembl
606686	3257	ENSG00000111361

Q14232

Protein name

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

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

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01008	IF-2B	15 → 293	Initiation factor 2 subunit family	Family

Sequence

MDDKELIEYFKSQMKEDPDMASAVAAIRTLLEFLKRDKGETIQGLRANLTSAIETLCGVD
SSVAVSSGGELFLRFISLASLEYSDYSKCKKIMIERGELFLRRISLSRNKIADLCHTFIK
DGATILTHAYSRVVLRVLEAAVAAKKRFSVYVTESQPDLSGKKMAKALCHLNVPVTVVLD
AAVGYIMEKADLVIVGAEGVVENGGIINKIGTNQMAVCAKAQNKPFYVVAESFKFVRLFP
LNQQDVPDKFKYKADTLKVAQTGQDLKEEHPWVDYTAPSLITLLFTDLGVLTPSAVSDEL
IKLYL

Sequence length

305

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Leukoencephalopathy with vanishing white matter 1	Likely pathogenic; Pathogenic	rs758746181, rs1435171602, rs779473190, rs370678173	RCV005008139 RCV005013093 RCV005003703 RCV004595589	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vanishing white matter disease	Pathogenic; Likely pathogenic	rs746435041, rs863225048, rs863225049, rs863225050, rs863225051, rs758746181, rs863225052, rs370678173	RCV005406412 RCV000201228 RCV000201220 RCV000201227 RCV000201218 RCV000201219 RCV000201226 RCV001290183 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

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.
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
EIF2B1-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	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 (55)

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	27602772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31119045		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36938730	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	BEFREE	11704758, 11835386, 12707859, 14993275, 15054402, 15217090, 15723074, 16041584, 16047349, 16246152, 16246171, 16823698, 16998732, 19023445, 19158808 View all (13 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	UNIPROT_DG	11835386, 15776425		★★★★★ ★★☆☆☆ 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
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	GENOMICS_ENGLAND_DG	15776425, 16807905, 24357685, 25761052		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cree leukoencephalopathy	Cree Leukoencephalopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delusions	Delusions	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	22952606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	31882561	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Permanent Neonatal	Neonatal diabetes mellitus	Pubtator	31882561	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Scleroderma	Scleroderma	BEFREE	29294089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	31727829		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	14566705, 15021247, 15054402		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	24811713	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	20016818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Late infantile CACH syndrome	CACH Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	15021247, 15054402, 15136673, 15723074, 16041584, 16378743, 18005052, 18263758, 18519871, 18678442, 20016818, 20958979, 22678813, 22737209, 22952606 View all (6 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	29632131	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	12499492, 14566705, 16998732, 21560189, 24938145, 26625702, 30720246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	31882561	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	31882561	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	29294089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31119045		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29036434		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28096186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	18632786, 26671108, 28093708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30538549		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	22238342, 26614666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	14729329, 15060152, 16246171, 22678813, 23335982, 28306143, 28597716, 29036434, 29489452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	15021247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	28852147	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
OVARIOLEUKODYSTROPHY	Ovarioleukodystrophy	BEFREE	15054402, 15776425, 18005052, 18061208, 18263758		★★★★★ ★☆☆☆☆ Found in Text Mining only
OVARIOLEUKODYSTROPHY	Ovarioleukodystrophy	ORPHANET_DG	15136673		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarioleukodystrophy	Ovarioleukodystrophy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
OVARIOLEUKODYSTROPHY	Ovarioleukodystrophy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22377737	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	15986317		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	15021247		★★★★★ ★☆☆☆☆ 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
Protoporphyria Erythropoietic	Erythropoietic protoporphyria	Pubtator	24811713	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	29294089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	29294089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vanishing White Matter Leukodystrophy with Ovarian Failure	Vanishing white matter disease	Pubtator	14993275	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

EIF2B1 (eukaryotic translation initiation factor 2B subunit alpha)