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.	8891
Gene name Gene Name - the full gene name approved by the HGNC.	Eukaryotic translation initiation factor 2B subunit gamma
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	EIF2B3
Synonyms (NCBI Gene) Gene synonyms aliases	EIF-2B, EIF2Bgamma, VWM3
Disease Acronyms (UniProt) Disease acronyms from UniProt database	VWM3
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p34.1
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome e

Show/Hide all(6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs113994022	G>A	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs113994024	C>T	Pathogenic	Missense variant, coding sequence variant
rs119474039	A>G	Pathogenic	Missense variant, coding sequence variant
rs141988913	C>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs397514647	A>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs748937918	T>-,TT	Likely-pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(50)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032349	hsa-let-7b-5p	Proteomics	18668040
MIRT044579	hsa-miR-320a	CLASH	23622248
MIRT039698	hsa-miR-615-3p	CLASH	23622248
MIRT1983337	hsa-miR-4476	CLIP-seq
MIRT1983338	hsa-miR-4533	CLIP-seq
MIRT2522015	hsa-miR-1248	CLIP-seq
MIRT2522016	hsa-miR-1269	CLIP-seq
MIRT2522017	hsa-miR-1269b	CLIP-seq
MIRT2522018	hsa-miR-1288	CLIP-seq
MIRT2522019	hsa-miR-129-3p	CLIP-seq
MIRT2522020	hsa-miR-3153	CLIP-seq
MIRT2522021	hsa-miR-338-3p	CLIP-seq
MIRT2522022	hsa-miR-3925-3p	CLIP-seq
MIRT2522023	hsa-miR-4424	CLIP-seq
MIRT2522024	hsa-miR-4515	CLIP-seq
MIRT2522025	hsa-miR-4520b-3p	CLIP-seq
MIRT2522026	hsa-miR-4529-3p	CLIP-seq
MIRT2522027	hsa-miR-4530	CLIP-seq
MIRT2522028	hsa-miR-4633-3p	CLIP-seq
MIRT2522029	hsa-miR-4668-5p	CLIP-seq
MIRT2522030	hsa-miR-4740-5p	CLIP-seq
MIRT2522031	hsa-miR-4797-5p	CLIP-seq
MIRT2522032	hsa-miR-4802-3p	CLIP-seq
MIRT2522033	hsa-miR-532-5p	CLIP-seq
MIRT2522034	hsa-miR-671-5p	CLIP-seq
MIRT2522035	hsa-miR-766	CLIP-seq
MIRT2522015	hsa-miR-1248	CLIP-seq
MIRT2522016	hsa-miR-1269	CLIP-seq
MIRT2522017	hsa-miR-1269b	CLIP-seq
MIRT2522018	hsa-miR-1288	CLIP-seq
MIRT2522019	hsa-miR-129-3p	CLIP-seq
MIRT2522020	hsa-miR-3153	CLIP-seq
MIRT2522021	hsa-miR-338-3p	CLIP-seq
MIRT2522022	hsa-miR-3925-3p	CLIP-seq
MIRT2522023	hsa-miR-4424	CLIP-seq
MIRT2522024	hsa-miR-4515	CLIP-seq
MIRT2522025	hsa-miR-4520b-3p	CLIP-seq
MIRT2522026	hsa-miR-4529-3p	CLIP-seq
MIRT2522027	hsa-miR-4530	CLIP-seq
MIRT2522028	hsa-miR-4633-3p	CLIP-seq
MIRT2522029	hsa-miR-4668-5p	CLIP-seq
MIRT2522030	hsa-miR-4740-5p	CLIP-seq
MIRT2522031	hsa-miR-4797-5p	CLIP-seq
MIRT2522032	hsa-miR-4802-3p	CLIP-seq
MIRT2522033	hsa-miR-532-5p	CLIP-seq
MIRT2679871	hsa-miR-541	CLIP-seq
MIRT2679872	hsa-miR-552	CLIP-seq
MIRT2679873	hsa-miR-654-5p	CLIP-seq
MIRT2522034	hsa-miR-671-5p	CLIP-seq
MIRT2522035	hsa-miR-766	CLIP-seq

Show/Hide all(20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002183	Process	Cytoplasmic translational initiation	IBA	21873635
GO:0003743	Function	Translation initiation factor activity	IDA	10900014, 16289705
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	11323413
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IMP	15054402
GO:0005515	Function	Protein binding	IPI	15060152
GO:0005737	Component	Cytoplasm	IDA	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:0006413	Process	Translational initiation	IDA	10900014, 16289705
GO:0008135	Function	Translation factor activity, RNA binding	IDA	10900014
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:0021766	Process	Hippocampus development	IEA
GO:0032045	Component	Guanyl-nucleotide exchange factor complex	IBA	21873635
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

MIM	HGNC	e!Ensembl
606273	3259	ENSG00000070785

Protein

UniProt ID

Q9NR50

Protein name

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

Protein function

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

PDB

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
PF12804	NTP_transf_3	5 → 246	MobA-like NTP transferase domain	Domain

Sequence

MEFQAVVMAVGGGSRMTDLTSSIPKPLLPVGNKPLIWYPLNLLERVGFEEVIVVTTRDVQ
KALCAEFKMKMKPDIVCIPDDADMGTADSLRYIYPKLKTDVLVLSCDLITDVALHEVVDL
FRAYDASLAMLMRKGQDSIEPVPGQKGKKKAVEQRDFIGVDSTGKRLLFMANEADLDEEL
VIKGSILQKHPRIRFHTGLVDAHLYCLKKYIVDFLMENGSITSIRSELIPYLVRKQFSSA
SSQQGQEEKEEDLKKKELKSLDIYSFIKEANTLNLAPYDACWNACRGDRWEDLSRSQVRC
YVHIMKEGLCSRVSTLGLYMEANRQVPKLLSALCPEEPPVHSSAQIVSKHLVGVDSLIGP
ETQIGEKSSIKRSVIGSSCLIKDRVTITNCLLMNSVTVEEGSNIQGSVICNNAVIEKGAD
IKDCLIGSGQRIEAKAKRVNEVIVGNDQLMEI

Sequence length

452

Interactions

View interactions

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

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
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 View all (26 more)	25079571, 19158808, 11835386, 15136673, 28597716, 24357685, 21484434, 25761052
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 Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Alzheimer disease	Alzheimer disease			GWAS

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining
Death	Associate	25761052
Dysuria	Associate	37981684
Leukoencephalopathies	Associate	22238342, 22312164, 25761052, 37981684, 39755597
Movement Disorders	Associate	39755597
Mucopolysaccharidosis II	Associate	24083598
Neurologic Manifestations	Associate	22238342
Parkinson Disease	Associate	15986317, 24156912
Primary Ovarian Insufficiency	Associate	32962729

EIF2B3 (eukaryotic translation initiation factor 2B subunit gamma)