UniProtKB - P49770 (EI2BB_HUMAN)
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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
- cellular response to stimulus Source: UniProtKB
- central nervous system development Source: UniProtKB
- myelination Source: UniProtKB
- oligodendrocyte development Source: UniProtKB
- ovarian follicle development Source: UniProtKB
- positive regulation of GTPase activity Source: GOC
- regulation of translational initiation Source: UniProtKB
- response to glucose Source: UniProtKB
- response to heat Source: UniProtKB
- response to peptide hormone Source: UniProtKB
- translational initiation Source: UniProtKB
Keywordsi
| Molecular function | Initiation factor |
| Biological process | Protein biosynthesis |
Enzyme and pathway databases
| 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. |
Subcellular locationi
GO - Cellular componenti
- cytoplasm Source: UniProtKB
- cytosol Source: Reactome
- 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 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 key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_068451 | 85 | V → E in VWM. 1 PublicationCorresponds to variant dbSNP:rs397514648Ensembl. | 1 | |
| Natural variantiVAR_016842 | 171 | S → F in VWM; with ovarian failure. 2 PublicationsCorresponds to variant dbSNP:rs104894428Ensembl. | 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:rs113994012Ensembl. | 1 | |
| Natural variantiVAR_012289 | 213 | E → G in VWM; with and without ovarian failure. 4 PublicationsCorresponds to variant dbSNP:rs104894425Ensembl. | 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:rs113994016Ensembl. | 1 | |
| Natural variantiVAR_012290 | 316 | V → D in VWM. 1 PublicationCorresponds to variant dbSNP:rs104894426Ensembl. | 1 | |
| Natural variantiVAR_012322 | 329 | G → V in VWM. 1 PublicationCorresponds to variant dbSNP:rs113994020Ensembl. | 1 |
Keywords - Diseasei
Disease mutation, LeukodystrophyOrganism-specific databases
| DisGeNETi | 8892. |
| 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. |
Polymorphism and mutation 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. |
| PaxDbi | P49770. |
| PeptideAtlasi | P49770. |
| PRIDEi | P49770. |
PTM databases
| iPTMneti | P49770. |
| PhosphoSitePlusi | P49770. |
Expressioni
Gene expression databases
| Bgeei | ENSG00000119718. |
| CleanExi | HS_EIF2B2. |
| ExpressionAtlasi | P49770. baseline and differential. |
| Genevisiblei | P49770. HS. |
Organism-specific databases
| HPAi | CAB037105. HPA005841. HPA048028. |
Interactioni
Subunit structurei
Complex of five different subunits; alpha, beta, gamma, delta and epsilon.
Binary interactionsi
Protein-protein interaction databases
| BioGridi | 114409. 67 interactors. |
| IntActi | P49770. 12 interactors. |
| STRINGi | 9606.ENSP00000266126. |
Structurei
3D structure databases
| ProteinModelPortali | P49770. |
| SMRi | P49770. |
| ModBasei | Search... |
| MobiDBi | Search... |
Family & Domainsi
Sequence similaritiesi
Belongs to the eIF-2B alpha/beta/delta subunits family.Curated
Phylogenomic databases
| eggNOGi | KOG1465. Eukaryota. COG1184. LUCA. |
| GeneTreei | ENSGT00550000074908. |
| HOGENOMi | HOG000208487. |
| HOVERGENi | HBG051458. |
| InParanoidi | P49770. |
| KOi | K03754. |
| OMAi | SNAGELM. |
| OrthoDBi | EOG091G09RO. |
| PhylomeDBi | P49770. |
| TreeFami | TF101506. |
Family and domain databases
| InterProi | View protein in InterPro IPR000649. IF-2B-related. |
| Pfami | View protein in Pfam PF01008. IF-2B. 1 hit. |
Sequencei
Sequence statusi: Complete.
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
Sequence cautioni
The sequence AAC42002 differs from that shown. Reason: Frameshift at several positions.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:rs397514648Ensembl. | 1 | |
| Natural variantiVAR_016842 | 171 | S → F in VWM; with ovarian failure. 2 PublicationsCorresponds to variant dbSNP:rs104894428Ensembl. | 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:rs113994012Ensembl. | 1 | |
| Natural variantiVAR_012289 | 213 | E → G in VWM; with and without ovarian failure. 4 PublicationsCorresponds to variant dbSNP:rs104894425Ensembl. | 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:rs113994016Ensembl. | 1 | |
| Natural variantiVAR_012290 | 316 | V → D in VWM. 1 PublicationCorresponds to variant dbSNP:rs104894426Ensembl. | 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. |
| UniGenei | Hs.409137. |
Genome annotation databases
| Ensembli | ENST00000266126; ENSP00000266126; ENSG00000119718. |
| GeneIDi | 8892. |
| KEGGi | hsa:8892. |
Similar proteinsi
Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:| 100% | UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry. |
| 90% | UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence). |
| 50% | UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster. |
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: | June 7, 2017 | |
| This is version 151 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
Complete proteome, Reference proteomeDocuments
- Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families
