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UniProtKB - P49770 (EI2BB_HUMAN)

Entry version 183 (29 Sep 2021)
Sequence version 3 (30 May 2000)
Previous versions | rss
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Protein

Translation initiation factor eIF-2B subunit beta

Gene

EIF2B2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionInitiation factor
Biological processProtein biosynthesis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P49770

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-72731, Recycling of eIF2:GDP

SIGNOR Signaling Network Open Resource

More...SIGNORi		P49770

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Translation initiation factor eIF-2B subunit beta
Alternative name(s):
S20I15
S20III15
eIF-2B GDP-GTP exchange factor subunit beta
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EIF2B2
Synonyms:EIF2BB
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:3258, EIF2B2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606454, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P49770

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000119718

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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 variant, Leukodystrophy

Organism-specific databases

DisGeNET

More...DisGeNETi		8892

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		EIF2B2

MalaCards human disease database

More...MalaCardsi		EIF2B2
MIMi603896, phenotype

Open Targets

More...OpenTargetsi		ENSG00000119718

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		157713, Congenital or early infantile CACH syndrome
99854, Cree leukoencephalopathy
157719, Juvenile or adult CACH syndrome
157716, Late infantile CACH syndrome
99853, Ovarioleukodystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27689

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P49770, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		EIF2B2

Domain mapping of disease mutations (DMDM)

More...DMDMi		6226858

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001560611 – 351Translation initiation factor eIF-2B subunit betaAdd BLAST351

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P49770

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P49770

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P49770

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P49770

PeptideAtlas

More...PeptideAtlasi		P49770

PRoteomics IDEntifications database

More...PRIDEi		P49770

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		56113

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P49770

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P49770

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P49770

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000119718, Expressed in right lobe of thyroid gland and 246 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P49770, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P49770, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000119718, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		114409, 87 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P49770

Protein interaction database and analysis system

More...IntActi		P49770, 43 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000266126

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P49770, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P49770

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the eIF-2B alpha/beta/delta subunits family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1465, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00550000074908

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_016218_4_3_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P49770

Identification of Orthologs from Complete Genome Data

More...OMAi		QIHPGDY

Database of Orthologous Groups

More...OrthoDBi		918011at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P49770

TreeFam database of animal gene trees

More...TreeFami		TF101506

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.50.10470, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000649, IF-2B-related
IPR042529, IF_2B-like_C
IPR037171, NagB/RpiA_transferase-like

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01008, IF-2B, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF100950, SSF100950, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iC29FE477143F545A
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V5E5G3V5E5_HUMAN
Translation initiation factor eIF-2...
EIF2B2
206Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YK01H0YK01_HUMAN
Translation initiation factor eIF-2...
EIF2B2
71Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS9836.1

NCBI Reference Sequences

More...RefSeqi		NP_055054.1, NM_014239.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000266126; ENSP00000266126; ENSG00000119718

Database of genes from NCBI RefSeq genomes

More...GeneIDi		8892

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:8892

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6CAJelectron microscopy2.80C/D2-351[»]
6EZOelectron microscopy4.10C/D5-351[»]
6K71electron microscopy4.30C/D1-351[»]
6K72electron microscopy4.60C/D1-351[»]
6O81electron microscopy3.21C/D2-351[»]
6O85electron microscopy3.03C/D2-351[»]
6O9Zelectron microscopy3.03C/D2-351[»]
7D43electron microscopy4.30C/D1-351[»]
7D44electron microscopy4.00C/D1-351[»]
7D45electron microscopy3.80C/D1-351[»]
7D46electron microscopy4.00C/D1-351[»]
7L70electron microscopy2.80C/D2-351[»]
7L7Gelectron microscopy3.00C/D2-351[»]
SMRiP49770
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi114409, 87 interactors
CORUMiP49770
IntActiP49770, 43 interactors
STRINGi9606.ENSP00000266126

PTM databases

iPTMnetiP49770
PhosphoSitePlusiP49770
SwissPalmiP49770

Genetic variation databases

BioMutaiEIF2B2
DMDMi6226858

Proteomic databases

EPDiP49770
jPOSTiP49770
MassIVEiP49770
PaxDbiP49770
PeptideAtlasiP49770
PRIDEiP49770
ProteomicsDBi56113

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		57, 183 antibodies

The DNASU plasmid repository

More...DNASUi		8892

Genome annotation databases

EnsembliENST00000266126; ENSP00000266126; ENSG00000119718
GeneIDi8892
KEGGihsa:8892

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		8892
DisGeNETi8892

GeneCards: human genes, protein and diseases

More...GeneCardsi		EIF2B2
GeneReviewsiEIF2B2
HGNCiHGNC:3258, EIF2B2
HPAiENSG00000119718, Low tissue specificity
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
VEuPathDBiHostDB:ENSG00000119718

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1465, Eukaryota
GeneTreeiENSGT00550000074908
HOGENOMiCLU_016218_4_3_1
InParanoidiP49770
OMAiQIHPGDY
OrthoDBi918011at2759
PhylomeDBiP49770
TreeFamiTF101506

Enzyme and pathway databases

PathwayCommonsiP49770
ReactomeiR-HSA-72731, Recycling of eIF2:GDP
SIGNORiP49770

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		8892, 800 hits in 1033 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		EIF2B2, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		EIF2B2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		8892
PharosiP49770, Tbio

Protein Ontology

More...PROi		PR:P49770
RNActiP49770, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000119718, Expressed in right lobe of thyroid gland and 246 other tissues
ExpressionAtlasiP49770, baseline and differential
GenevisibleiP49770, HS

Family and domain databases

Gene3Di3.40.50.10470, 1 hit
InterProiView protein in InterPro
IPR000649, IF-2B-related
IPR042529, IF_2B-like_C
IPR037171, NagB/RpiA_transferase-like
PfamiView protein in Pfam
PF01008, IF-2B, 1 hit
SUPFAMiSSF100950, SSF100950, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiEI2BB_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P49770
Secondary accession number(s): O43201
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: May 30, 2000
Last modified: September 29, 2021
This is version 183 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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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