UniProtKB - P49770 (EI2BB_HUMAN)
Protein
Translation initiation factor eIF-2B subunit beta
Gene
EIF2B2
Organism
Homo sapiens (Human)
Status
Functioni
Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.
GO - Molecular functioni
- ATP binding Source: UniProtKB
- GTP binding Source: UniProtKB
- translation initiation factor activity Source: UniProtKB-KW
GO - Biological processi
- central nervous system development Source: UniProtKB
- myelination Source: UniProtKB
- oligodendrocyte development Source: UniProtKB
- ovarian follicle development Source: UniProtKB
- regulation of catalytic activity Source: GOC
- regulation of translational initiation Source: GO_Central
- response to glucose Source: UniProtKB
- response to heat Source: UniProtKB
- response to peptide hormone Source: UniProtKB
- T cell receptor signaling pathway Source: UniProtKB
- translational initiation Source: UniProtKB
Keywordsi
Molecular function | Initiation factor |
Biological process | Protein biosynthesis |
Enzyme and pathway databases
PathwayCommonsi | P49770 |
Reactomei | R-HSA-72731, Recycling of eIF2:GDP |
SIGNORi | P49770 |
Names & Taxonomyi
Protein namesi | Recommended name: Translation initiation factor eIF-2B subunit betaAlternative name(s): S20I15 S20III15 eIF-2B GDP-GTP exchange factor subunit beta |
Gene namesi | Name:EIF2B2 Synonyms:EIF2BB |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:3258, EIF2B2 |
MIMi | 606454, gene |
neXtProti | NX_P49770 |
VEuPathDBi | HostDB:ENSG00000119718.10 |
Subcellular locationi
Cytosol
- cytosol Source: Reactome
Other locations
- cytoplasm Source: UniProtKB
- eukaryotic translation initiation factor 2B complex Source: UniProtKB
Pathology & Biotechi
Involvement in diseasei
Leukodystrophy with vanishing white matter (VWM)6 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA leukodystrophy that occurs mainly in children. Neurological signs include progressive cerebellar ataxia, spasticity, inconstant optic atrophy and relatively preserved mental abilities. The disease is chronic-progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. While childhood onset is the most common form of the disorder, some severe forms are apparent at birth. A severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident until adolescence or adulthood. Some females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068451 | 85 | V → E in VWM. 1 PublicationCorresponds to variant dbSNP:rs397514648EnsemblClinVar. | 1 | |
Natural variantiVAR_016842 | 171 | S → F in VWM; with ovarian failure. 2 PublicationsCorresponds to variant dbSNP:rs104894428EnsemblClinVar. | 1 | |
Natural variantiVAR_068452 | 196 | P → S in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994011Ensembl. | 1 | |
Natural variantiVAR_068453 | 200 | G → V in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994012EnsemblClinVar. | 1 | |
Natural variantiVAR_012289 | 213 | E → G in VWM; with and without ovarian failure. 4 PublicationsCorresponds to variant dbSNP:rs104894425EnsemblClinVar. | 1 | |
Natural variantiVAR_068454 | 268 | C → Y in VWM. 1 Publication | 1 | |
Natural variantiVAR_012321 | 273 | K → R in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994016EnsemblClinVar. | 1 | |
Natural variantiVAR_012290 | 316 | V → D in VWM. 1 PublicationCorresponds to variant dbSNP:rs104894426EnsemblClinVar. | 1 | |
Natural variantiVAR_012322 | 329 | G → V in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994020Ensembl. | 1 |
Keywords - Diseasei
Disease variant, LeukodystrophyOrganism-specific databases
DisGeNETi | 8892 |
GeneReviewsi | EIF2B2 |
MalaCardsi | EIF2B2 |
MIMi | 603896, phenotype |
OpenTargetsi | ENSG00000119718 |
Orphaneti | 157713, Congenital or early infantile CACH syndrome 99854, Cree leukoencephalopathy 157719, Juvenile or adult CACH syndrome 157716, Late infantile CACH syndrome 99853, Ovarioleukodystrophy |
PharmGKBi | PA27689 |
Miscellaneous databases
Pharosi | P49770, Tbio |
Genetic variation databases
BioMutai | EIF2B2 |
DMDMi | 6226858 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000156061 | 1 – 351 | Translation initiation factor eIF-2B subunit betaAdd BLAST | 351 |
Proteomic databases
EPDi | P49770 |
jPOSTi | P49770 |
MassIVEi | P49770 |
PaxDbi | P49770 |
PeptideAtlasi | P49770 |
PRIDEi | P49770 |
ProteomicsDBi | 56113 |
PTM databases
iPTMneti | P49770 |
PhosphoSitePlusi | P49770 |
SwissPalmi | P49770 |
Expressioni
Gene expression databases
Bgeei | ENSG00000119718, Expressed in right lobe of thyroid gland and 245 other tissues |
ExpressionAtlasi | P49770, baseline and differential |
Genevisiblei | P49770, HS |
Organism-specific databases
HPAi | ENSG00000119718, Low tissue specificity |
Interactioni
Subunit structurei
Complex of five different subunits; alpha, beta, gamma, delta and epsilon.
Binary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 114409, 87 interactors |
CORUMi | P49770 |
IntActi | P49770, 43 interactors |
MINTi | P49770 |
STRINGi | 9606.ENSP00000266126 |
Miscellaneous databases
RNActi | P49770, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P49770 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Sequence similaritiesi
Belongs to the eIF-2B alpha/beta/delta subunits family.Curated
Phylogenomic databases
eggNOGi | KOG1465, Eukaryota |
GeneTreei | ENSGT00550000074908 |
HOGENOMi | CLU_016218_4_3_1 |
InParanoidi | P49770 |
OMAi | DHIHSDE |
OrthoDBi | 918011at2759 |
PhylomeDBi | P49770 |
TreeFami | TF101506 |
Family and domain databases
Gene3Di | 3.40.50.10470, 1 hit |
InterProi | View protein in InterPro IPR000649, IF-2B-related IPR042529, IF_2B-like_C IPR037171, NagB/RpiA_transferase-like |
Pfami | View protein in Pfam PF01008, IF-2B, 1 hit |
SUPFAMi | SSF100950, SSF100950, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All
P49770-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MPGSAAKGSE LSERIESFVE TLKRGGGPRS SEEMARETLG LLRQIITDHR
60 70 80 90 100
WSNAGELMEL IRREGRRMTA AQPSETTVGN MVRRVLKIIR EEYGRLHGRS
110 120 130 140 150
DESDQQESLH KLLTSGGLNE DFSFHYAQLQ SNIIEAINEL LVELEGTMEN
160 170 180 190 200
IAAQALEHIH SNEVIMTIGF SRTVEAFLKE AARKRKFHVI VAECAPFCQG
210 220 230 240 250
HEMAVNLSKA GIETTVMTDA AIFAVMSRVN KVIIGTKTIL ANGALRAVTG
260 270 280 290 300
THTLALAAKH HSTPLIVCAP MFKLSPQFPN EEDSFHKFVA PEEVLPFTEG
310 320 330 340 350
DILEKVSVHC PVFDYVPPEL ITLFISNIGG NAPSYIYRLM SELYHPDDHV
L
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YJJ8 | H0YJJ8_HUMAN | Translation initiation factor eIF-2... | EIF2B2 | 200 | Annotation score: | ||
G3V5E5 | G3V5E5_HUMAN | Translation initiation factor eIF-2... | EIF2B2 | 206 | Annotation score: | ||
H0YK01 | H0YK01_HUMAN | Translation initiation factor eIF-2... | EIF2B2 | 71 | Annotation score: |
Sequence cautioni
The sequence AAC42002 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 6 | A → K in AAC42002 (PubMed:7596406).Curated | 1 | |
Sequence conflicti | 23 | K → T in AAC42002 (PubMed:7596406).Curated | 1 | |
Sequence conflicti | 30 | S → R in AAC42002 (PubMed:7596406).Curated | 1 | |
Sequence conflicti | 35 | A → V in AAC42002 (PubMed:7596406).Curated | 1 | |
Sequence conflicti | 52 | S → R in AAC42002 (PubMed:7596406).Curated | 1 | |
Sequence conflicti | 95 – 101 | RLHGRSD → DSMDAAT in AAC42002 (PubMed:7596406).Curated | 7 | |
Sequence conflicti | 110 | H → D in AAC42002 (PubMed:7596406).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068451 | 85 | V → E in VWM. 1 PublicationCorresponds to variant dbSNP:rs397514648EnsemblClinVar. | 1 | |
Natural variantiVAR_079034 | 127 | A → V Found in a patient with Rett syndrome-like phenotype; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs150617429EnsemblClinVar. | 1 | |
Natural variantiVAR_016842 | 171 | S → F in VWM; with ovarian failure. 2 PublicationsCorresponds to variant dbSNP:rs104894428EnsemblClinVar. | 1 | |
Natural variantiVAR_068452 | 196 | P → S in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994011Ensembl. | 1 | |
Natural variantiVAR_068453 | 200 | G → V in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994012EnsemblClinVar. | 1 | |
Natural variantiVAR_012289 | 213 | E → G in VWM; with and without ovarian failure. 4 PublicationsCorresponds to variant dbSNP:rs104894425EnsemblClinVar. | 1 | |
Natural variantiVAR_068454 | 268 | C → Y in VWM. 1 Publication | 1 | |
Natural variantiVAR_012321 | 273 | K → R in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994016EnsemblClinVar. | 1 | |
Natural variantiVAR_012290 | 316 | V → D in VWM. 1 PublicationCorresponds to variant dbSNP:rs104894426EnsemblClinVar. | 1 | |
Natural variantiVAR_012322 | 329 | G → V in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994020Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF035280 mRNA Translation: AAB88176.1 L40395 mRNA Translation: AAC42002.1 Frameshift. AC006530 Genomic DNA Translation: AAD30183.1 BC011750 mRNA Translation: AAH11750.1 |
CCDSi | CCDS9836.1 |
RefSeqi | NP_055054.1, NM_014239.3 |
Genome annotation databases
Ensembli | ENST00000266126; ENSP00000266126; ENSG00000119718 |
GeneIDi | 8892 |
KEGGi | hsa:8892 |
Similar proteinsi
Cross-referencesi
Web resourcesi
Mendelian genes eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa (EIF2B2) Leiden Open Variation Database (LOVD) |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF035280 mRNA Translation: AAB88176.1 L40395 mRNA Translation: AAC42002.1 Frameshift. AC006530 Genomic DNA Translation: AAD30183.1 BC011750 mRNA Translation: AAH11750.1 |
CCDSi | CCDS9836.1 |
RefSeqi | NP_055054.1, NM_014239.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6CAJ | electron microscopy | 2.80 | C/D | 2-351 | [»] | |
6EZO | electron microscopy | 4.10 | C/D | 5-351 | [»] | |
6K71 | electron microscopy | 4.30 | C/D | 1-351 | [»] | |
6K72 | electron microscopy | 4.60 | C/D | 1-351 | [»] | |
6O81 | electron microscopy | 3.21 | C/D | 2-351 | [»] | |
6O85 | electron microscopy | 3.03 | C/D | 2-351 | [»] | |
6O9Z | electron microscopy | 3.03 | C/D | 2-351 | [»] | |
7D43 | electron microscopy | 4.30 | C/D | 1-351 | [»] | |
7D44 | electron microscopy | 4.00 | C/D | 1-351 | [»] | |
7D45 | electron microscopy | 3.80 | C/D | 1-351 | [»] | |
7D46 | electron microscopy | 4.00 | C/D | 1-351 | [»] | |
SMRi | P49770 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 114409, 87 interactors |
CORUMi | P49770 |
IntActi | P49770, 43 interactors |
MINTi | P49770 |
STRINGi | 9606.ENSP00000266126 |
PTM databases
iPTMneti | P49770 |
PhosphoSitePlusi | P49770 |
SwissPalmi | P49770 |
Genetic variation databases
BioMutai | EIF2B2 |
DMDMi | 6226858 |
Proteomic databases
EPDi | P49770 |
jPOSTi | P49770 |
MassIVEi | P49770 |
PaxDbi | P49770 |
PeptideAtlasi | P49770 |
PRIDEi | P49770 |
ProteomicsDBi | 56113 |
Protocols and materials databases
Antibodypediai | 57, 180 antibodies |
DNASUi | 8892 |
Genome annotation databases
Ensembli | ENST00000266126; ENSP00000266126; ENSG00000119718 |
GeneIDi | 8892 |
KEGGi | hsa:8892 |
Organism-specific databases
CTDi | 8892 |
DisGeNETi | 8892 |
GeneCardsi | EIF2B2 |
GeneReviewsi | EIF2B2 |
HGNCi | HGNC:3258, EIF2B2 |
HPAi | ENSG00000119718, Low tissue specificity |
MalaCardsi | EIF2B2 |
MIMi | 603896, phenotype 606454, gene |
neXtProti | NX_P49770 |
OpenTargetsi | ENSG00000119718 |
Orphaneti | 157713, Congenital or early infantile CACH syndrome 99854, Cree leukoencephalopathy 157719, Juvenile or adult CACH syndrome 157716, Late infantile CACH syndrome 99853, Ovarioleukodystrophy |
PharmGKBi | PA27689 |
VEuPathDBi | HostDB:ENSG00000119718.10 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1465, Eukaryota |
GeneTreei | ENSGT00550000074908 |
HOGENOMi | CLU_016218_4_3_1 |
InParanoidi | P49770 |
OMAi | DHIHSDE |
OrthoDBi | 918011at2759 |
PhylomeDBi | P49770 |
TreeFami | TF101506 |
Enzyme and pathway databases
PathwayCommonsi | P49770 |
Reactomei | R-HSA-72731, Recycling of eIF2:GDP |
SIGNORi | P49770 |
Miscellaneous databases
BioGRID-ORCSi | 8892, 795 hits in 1009 CRISPR screens |
ChiTaRSi | EIF2B2, human |
GeneWikii | EIF2B2 |
GenomeRNAii | 8892 |
Pharosi | P49770, Tbio |
PROi | PR:P49770 |
RNActi | P49770, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000119718, Expressed in right lobe of thyroid gland and 245 other tissues |
ExpressionAtlasi | P49770, baseline and differential |
Genevisiblei | P49770, HS |
Family and domain databases
Gene3Di | 3.40.50.10470, 1 hit |
InterProi | View protein in InterPro IPR000649, IF-2B-related IPR042529, IF_2B-like_C IPR037171, NagB/RpiA_transferase-like |
Pfami | View protein in Pfam PF01008, IF-2B, 1 hit |
SUPFAMi | SSF100950, SSF100950, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | EI2BB_HUMAN | |
Accessioni | P49770Primary (citable) accession number: P49770 Secondary accession number(s): O43201 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | May 30, 2000 | |
Last modified: | April 7, 2021 | |
This is version 181 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families