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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

  • central nervous system development Source: UniProtKB
  • myelination Source: UniProtKB
  • oligodendrocyte development Source: UniProtKB
  • ovarian follicle development Source: UniProtKB
  • regulation of translational initiation Source: UniProtKB
  • 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 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
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

Show more details

Protein-protein interaction databases

BioGridi114409, 78 interactors
IntActiP49770, 18 interactors
MINTiP49770
STRINGi9606.ENSP00000266126

Structurei

Secondary structure

1351
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi9 – 24Combined sources16
Beta strandi28 – 30Combined sources3
Helixi31 – 47Combined sources17
Helixi54 – 71Combined sources18
Helixi76 – 95Combined sources20
Helixi127 – 145Combined sources19
Helixi147 – 153Combined sources7
Helixi154 – 158Combined sources5
Beta strandi164 – 169Combined sources6
Helixi172 – 181Combined sources10
Turni182 – 184Combined sources3
Beta strandi188 – 192Combined sources5
Turni195 – 198Combined sources4
Helixi200 – 208Combined sources9
Beta strandi214 – 217Combined sources4
Helixi219 – 221Combined sources3
Helixi222 – 225Combined sources4
Helixi226 – 228Combined sources3
Beta strandi231 – 234Combined sources4
Beta strandi237 – 239Combined sources3
Beta strandi245 – 248Combined sources4
Helixi251 – 260Combined sources10
Beta strandi265 – 268Combined sources4
Turni279 – 281Combined sources3
Turni291 – 294Combined sources4
Helixi297 – 299Combined sources3
Helixi301 – 303Combined sources3
Beta strandi311 – 316Combined sources6
Helixi318 – 320Combined sources3
Beta strandi323 – 326Combined sources4
Beta strandi329 – 331Combined sources3
Helixi333 – 335Combined sources3
Helixi336 – 343Combined sources8
Helixi346 – 348Combined sources3

3D structure databases

ProteinModelPortaliP49770
SMRiP49770
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1465 Eukaryota
COG1184 LUCA
GeneTreeiENSGT00550000074908
HOGENOMiHOG000208487
HOVERGENiHBG051458
InParanoidiP49770
KOiK03754
OMAiSNAGELM
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, 2 hits

Sequencei

Sequence statusi: Complete.

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

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

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: July 18, 2018
This is version 161 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. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

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