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	8891
Gene name	Eukaryotic translation initiation factor 2B subunit gamma
Gene symbol	EIF2B3
Synonyms (NCBI Gene)	EIF-2BEIF2BgammaVWM3
Chromosome	1
Chromosome location	1p34.1
Summary	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 (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002183	Process	Cytoplasmic translational initiation	IBA
GO:0002183	Process	Cytoplasmic translational initiation	IDA	27023709
GO:0003743	Function	Translation initiation factor activity	IDA	10900014, 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:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IMP	15054402
GO:0005515	Function	Protein binding	IPI	15060152
GO:0005737	Component	Cytoplasm	IDA	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:0006412	Process	Translation	IEA
GO:0006413	Process	Translational initiation	IDA	10900014, 16289705
GO:0006413	Process	Translational initiation	IEA
GO:0007417	Process	Central nervous system development	IEA
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:0043434	Process	Response to peptide hormone	ISS
GO:0050852	Process	T cell receptor signaling pathway	IDA	8626696

MIM	HGNC	e!Ensembl
606273	3259	ENSG00000070785

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

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
EIF2B3-related disorder	Likely pathogenic; Pathogenic	rs113994022	RCV003914806	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukoencephalopathy with vanishing white matter 1	Likely pathogenic; Pathogenic	rs752636698	RCV003338781	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukoencephalopathy with vanishing white matter 3	Likely pathogenic; Pathogenic	rs766866104, rs113994024, rs113994026, rs113994022, rs119474039, rs141988913, rs397514647	RCV005017085 RCV003221404 RCV003221405 RCV003221406 RCV003221407 RCV005027574 RCV003221420 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Vanishing white matter disease	Pathogenic; Likely pathogenic	rs113994024, rs766866104, rs113994022, rs119474039, rs141988913, rs752636698, rs1643855445	RCV001702329 RCV005406274 RCV000004689 RCV000004690 RCV000763340 RCV000754838 RCV001248821 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (16)

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.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ 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
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (24)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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	UNIPROT_DG	11835386, 19158808, 21484434		★★★★★ ★★☆☆☆ 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	19158808, 24357685, 28597716		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	CLINVAR_DG	25079571, 25761052		★★★★★ ★★☆☆☆ 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 regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Late infantile CACH syndrome	CACH Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	39755597	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis II	Mucopolysaccharidosis	Pubtator	24083598	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ 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
Parkinson Disease	Parkinson disease	BEFREE	15986317, 17388942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	15986317, 24156912	Associate	★★★★★ ★☆☆☆☆ 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
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

EIF2B3 (eukaryotic translation initiation factor 2B subunit gamma)