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Protein

Translation initiation factor eIF-2B subunit beta

Gene

EIF2B2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

Keywordsi

Molecular functionInitiation factor
Biological processProtein biosynthesis

Enzyme and pathway databases

ReactomeiR-HSA-72731 Recycling of eIF2:GDP
SIGNORiP49770

Names & Taxonomyi

Protein namesi
Recommended name:
Translation initiation factor eIF-2B subunit beta
Alternative name(s):
S20I15
S20III15
eIF-2B GDP-GTP exchange factor subunit beta
Gene namesi
Name:EIF2B2
Synonyms:EIF2BB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000119718.10
HGNCiHGNC:3258 EIF2B2
MIMi606454 gene
neXtProtiNX_P49770

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Leukodystrophy with vanishing white matter (VWM)6 Publications
The disease is caused by mutations 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.
See also OMIM:603896
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06845185V → E in VWM. 1 PublicationCorresponds to variant dbSNP:rs397514648EnsemblClinVar.1
Natural variantiVAR_016842171S → F in VWM; with ovarian failure. 2 PublicationsCorresponds to variant dbSNP:rs104894428EnsemblClinVar.1
Natural variantiVAR_068452196P → S in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994011Ensembl.1
Natural variantiVAR_068453200G → V in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994012EnsemblClinVar.1
Natural variantiVAR_012289213E → G in VWM; with and without ovarian failure. 4 PublicationsCorresponds to variant dbSNP:rs104894425EnsemblClinVar.1
Natural variantiVAR_068454268C → Y in VWM. 1 Publication1
Natural variantiVAR_012321273K → R in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994016EnsemblClinVar.1
Natural variantiVAR_012290316V → D in VWM. 1 PublicationCorresponds to variant dbSNP:rs104894426EnsemblClinVar.1
Natural variantiVAR_012322329G → V in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994020Ensembl.1

Keywords - Diseasei

Disease mutation, Leukodystrophy

Organism-specific databases

DisGeNETi8892
GeneReviewsiEIF2B2
MalaCardsiEIF2B2
MIMi603896 phenotype
OpenTargetsiENSG00000119718
Orphaneti157713 Congenital or early infantile CACH syndrome
99854 Cree leukoencephalopathy
157719 Juvenile or adult CACH syndrome
157716 Late infantile CACH syndrome
99853 Ovarioleukodystrophy
PharmGKBiPA27689

Polymorphism and mutation databases

BioMutaiEIF2B2
DMDMi6226858

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001560611 – 351Translation initiation factor eIF-2B subunit betaAdd BLAST351

Proteomic databases

EPDiP49770
PaxDbiP49770
PeptideAtlasiP49770
PRIDEiP49770
ProteomicsDBi56113

PTM databases

iPTMnetiP49770
PhosphoSitePlusiP49770

Expressioni

Gene expression databases

BgeeiENSG00000119718 Expressed in 233 organ(s), highest expression level in right lobe of thyroid gland
CleanExiHS_EIF2B2
ExpressionAtlasiP49770 baseline and differential
GenevisibleiP49770 HS

Organism-specific databases

HPAiCAB037105
HPA005841
HPA048028

Interactioni

Subunit structurei

Complex of five different subunits; alpha, beta, gamma, delta and epsilon.

Binary interactionsi

Protein-protein interaction databases

BioGridi114409, 78 interactors
IntActiP49770, 15 interactors
MINTiP49770
STRINGi9606.ENSP00000266126

Structurei

Secondary structure

1351
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP49770
SMRiP49770
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1465 Eukaryota
COG1184 LUCA
GeneTreeiENSGT00550000074908
HOGENOMiHOG000208487
HOVERGENiHBG051458
InParanoidiP49770
KOiK03754
OMAiDHRWSNA
OrthoDBiEOG091G09RO
PhylomeDBiP49770
TreeFamiTF101506

Family and domain databases

InterProiView protein in InterPro
IPR000649 IF-2B-related
IPR037171 NagB/RpiA_transferase-like
PfamiView protein in Pfam
PF01008 IF-2B, 1 hit
SUPFAMiSSF100950 SSF100950, 1 hit

Sequence (1+)i

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
« Hide
        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
Length:351
Mass (Da):38,990
Last modified:May 30, 2000 - v3
Checksum:iC29FE477143F545A
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YJJ8H0YJJ8_HUMAN
Translation initiation factor eIF-2...
EIF2B2
200Annotation score:
G3V5E5G3V5E5_HUMAN
Translation initiation factor eIF-2...
EIF2B2
206Annotation score:
H0YK01H0YK01_HUMAN
Translation initiation factor eIF-2...
EIF2B2
71Annotation score:

Sequence cautioni

The sequence AAC42002 differs from that shown. Reason: Frameshift at several positions.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti6A → K in AAC42002 (PubMed:7596406).Curated1
Sequence conflicti23K → T in AAC42002 (PubMed:7596406).Curated1
Sequence conflicti30S → R in AAC42002 (PubMed:7596406).Curated1
Sequence conflicti35A → V in AAC42002 (PubMed:7596406).Curated1
Sequence conflicti52S → R in AAC42002 (PubMed:7596406).Curated1
Sequence conflicti95 – 101RLHGRSD → DSMDAAT in AAC42002 (PubMed:7596406).Curated7
Sequence conflicti110H → D in AAC42002 (PubMed:7596406).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06845185V → E in VWM. 1 PublicationCorresponds to variant dbSNP:rs397514648EnsemblClinVar.1
Natural variantiVAR_079034127A → V Found in a patient with Rett syndrome-like phenotype; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs150617429EnsemblClinVar.1
Natural variantiVAR_016842171S → F in VWM; with ovarian failure. 2 PublicationsCorresponds to variant dbSNP:rs104894428EnsemblClinVar.1
Natural variantiVAR_068452196P → S in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994011Ensembl.1
Natural variantiVAR_068453200G → V in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994012EnsemblClinVar.1
Natural variantiVAR_012289213E → G in VWM; with and without ovarian failure. 4 PublicationsCorresponds to variant dbSNP:rs104894425EnsemblClinVar.1
Natural variantiVAR_068454268C → Y in VWM. 1 Publication1
Natural variantiVAR_012321273K → R in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994016EnsemblClinVar.1
Natural variantiVAR_012290316V → D in VWM. 1 PublicationCorresponds to variant dbSNP:rs104894426EnsemblClinVar.1
Natural variantiVAR_012322329G → 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
CCDSiCCDS9836.1
RefSeqiNP_055054.1, NM_014239.3
UniGeneiHs.409137

Genome annotation databases

EnsembliENST00000266126; ENSP00000266126; ENSG00000119718
GeneIDi8892
KEGGihsa: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
CCDSiCCDS9836.1
RefSeqiNP_055054.1, NM_014239.3
UniGeneiHs.409137

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6CAJelectron microscopy2.80C/D2-351[»]
6EZOelectron microscopy4.10C/D5-351[»]
ProteinModelPortaliP49770
SMRiP49770
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114409, 78 interactors
IntActiP49770, 15 interactors
MINTiP49770
STRINGi9606.ENSP00000266126

PTM databases

iPTMnetiP49770
PhosphoSitePlusiP49770

Polymorphism and mutation databases

BioMutaiEIF2B2
DMDMi6226858

Proteomic databases

EPDiP49770
PaxDbiP49770
PeptideAtlasiP49770
PRIDEiP49770
ProteomicsDBi56113

Protocols and materials databases

DNASUi8892
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000266126; ENSP00000266126; ENSG00000119718
GeneIDi8892
KEGGihsa:8892

Organism-specific databases

CTDi8892
DisGeNETi8892
EuPathDBiHostDB:ENSG00000119718.10
GeneCardsiEIF2B2
GeneReviewsiEIF2B2
HGNCiHGNC:3258 EIF2B2
HPAiCAB037105
HPA005841
HPA048028
MalaCardsiEIF2B2
MIMi603896 phenotype
606454 gene
neXtProtiNX_P49770
OpenTargetsiENSG00000119718
Orphaneti157713 Congenital or early infantile CACH syndrome
99854 Cree leukoencephalopathy
157719 Juvenile or adult CACH syndrome
157716 Late infantile CACH syndrome
99853 Ovarioleukodystrophy
PharmGKBiPA27689
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1465 Eukaryota
COG1184 LUCA
GeneTreeiENSGT00550000074908
HOGENOMiHOG000208487
HOVERGENiHBG051458
InParanoidiP49770
KOiK03754
OMAiDHRWSNA
OrthoDBiEOG091G09RO
PhylomeDBiP49770
TreeFamiTF101506

Enzyme and pathway databases

ReactomeiR-HSA-72731 Recycling of eIF2:GDP
SIGNORiP49770

Miscellaneous databases

ChiTaRSiEIF2B2 human
GeneWikiiEIF2B2
GenomeRNAii8892
PROiPR:P49770
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000119718 Expressed in 233 organ(s), highest expression level in right lobe of thyroid gland
CleanExiHS_EIF2B2
ExpressionAtlasiP49770 baseline and differential
GenevisibleiP49770 HS

Family and domain databases

InterProiView protein in InterPro
IPR000649 IF-2B-related
IPR037171 NagB/RpiA_transferase-like
PfamiView protein in Pfam
PF01008 IF-2B, 1 hit
SUPFAMiSSF100950 SSF100950, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiEI2BB_HUMAN
AccessioniPrimary (citable) accession number: P49770
Secondary accession number(s): O43201
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: May 30, 2000
Last modified: November 7, 2018
This is version 164 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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