EIF2B1 (eukaryotic translation initiation factor 2B subunit alpha)

Gene

• Entrez ID: 1967
• Gene name: Eukaryotic translation initiation factor 2B subunit alpha
• Gene symbol: EIF2B1
• Synonyms: EIF2B, EIF2BA, EIF2Balpha, VWM1
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003743	Function	Translation initiation factor activity	IBA	21873635
GO:0003743	Function	Translation initiation factor activity	IDA	16289705
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA	21873635
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	11323413
GO:0005515	Function	Protein binding	IPI	9235896, 25416956, 29892012, 31515488, 32296183
GO:0005737	Component	Cytoplasm	IDA	9235896, 11323413
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:0005886	Component	Plasma membrane	IDA	9235896
GO:0006413	Process	Translational initiation	IBA	21873635
GO:0006413	Process	Translational initiation	IDA	16289705
GO:0006446	Process	Regulation of translational initiation	IBA	21873635
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:0050790	Process	Regulation of catalytic activity	IEA
GO:0050852	Process	T cell receptor signaling pathway	IDA	8626696

Other IDs

• MIM: 606686
• HGNC: 3257
• e!Ensembl: ENSG00000111361

Protein

• UniProt ID: 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

Pathways

KEGG:

Herpes simplex virus 1 infection

Reactome:

Recycling of eIF2:GDP

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Developmental regression	Developmental regression	rs1224421127
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, rs28937596, rs113994074, rs113994049, rs113994054, rs113994061, rs113994055, rs113994053, rs113994064, rs121908541, rs397514646, rs397514647, rs397514648, rs113994048, rs113994012, rs758746181, rs767933078, rs113994060, rs113994030, rs1064794256, rs141988913, rs113994016, rs372548739, rs752636698, rs755436800, rs113994068, rs545593935	11835386, 15136673, 24357685, 15776425, 25761052, 16807905
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382	27602772
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575

Unknown
Disease name	Disease term	dbSNP ID	References
Cach syndrome	Late infantile CACH syndrome
Central nervous system demyelination	Central nervous system demyelination
Cree leukoencephalopathy	Cree leukoencephalopathy
Delusions	Delusions
Dysarthria	Dysarthria
Mood swings	Mood swings
Ovarioleukodystrophy	OVARIOLEUKODYSTROPHY		15136673
Physiologic amenorrhea	Primary physiologic amenorrhea
Premature menopause	Premature Menopause
Secondary physiologic amenorrhea	Secondary physiologic amenorrhea