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P49770

- EI2BB_HUMAN

UniProt

P49770 - EI2BB_HUMAN

Protein

Translation initiation factor eIF-2B subunit beta

Gene

EIF2B2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 3 (30 May 2000)
      Previous versions | rss
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    Functioni

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

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB
    2. GTP binding Source: UniProtKB
    3. protein binding Source: UniProtKB
    4. translation initiation factor activity Source: UniProtKB-KW

    GO - Biological processi

    1. cellular protein metabolic process Source: Reactome
    2. cellular response to stimulus Source: UniProtKB
    3. central nervous system development Source: UniProtKB
    4. gene expression Source: Reactome
    5. myelination Source: UniProtKB
    6. oligodendrocyte development Source: UniProtKB
    7. ovarian follicle development Source: UniProtKB
    8. positive regulation of GTPase activity Source: GOC
    9. regulation of translational initiation Source: UniProtKB
    10. response to glucose Source: UniProtKB
    11. response to heat Source: UniProtKB
    12. response to peptide hormone Source: UniProtKB
    13. translation Source: Reactome
    14. translational initiation Source: UniProtKB

    Keywords - Molecular functioni

    Initiation factor

    Keywords - Biological processi

    Protein biosynthesis

    Enzyme and pathway databases

    ReactomeiREACT_1815. Recycling of eIF2:GDP.

    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
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:3258. EIF2B2.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. cytosol Source: Reactome
    3. eukaryotic translation initiation factor 2B complex Source: UniProtKB

    Pathology & Biotechi

    Involvement in diseasei

    Leukodystrophy with vanishing white matter (VWM) [MIM:603896]: A 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.6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti85 – 851V → E in VWM. 1 Publication
    VAR_068451
    Natural varianti171 – 1711S → F in VWM; with ovarian failure. 2 Publications
    VAR_016842
    Natural varianti196 – 1961P → S in VWM. 1 Publication
    VAR_068452
    Natural varianti200 – 2001G → V in VWM. 1 Publication
    VAR_068453
    Natural varianti213 – 2131E → G in VWM; with and without ovarian failure. 4 Publications
    VAR_012289
    Natural varianti268 – 2681C → Y in VWM. 1 Publication
    VAR_068454
    Natural varianti273 – 2731K → R in VWM. 1 Publication
    VAR_012321
    Natural varianti316 – 3161V → D in VWM. 1 Publication
    VAR_012290
    Natural varianti329 – 3291G → V in VWM. 1 Publication
    VAR_012322

    Keywords - Diseasei

    Disease mutation, Leukodystrophy

    Organism-specific databases

    MIMi603896. phenotype.
    Orphaneti99854. Cree leukoencephalopathy.
    157716. Late infantile CACH syndrome.
    99853. Ovarioleukodystrophy.
    PharmGKBiPA27689.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 351351Translation initiation factor eIF-2B subunit betaPRO_0000156061Add
    BLAST

    Proteomic databases

    MaxQBiP49770.
    PaxDbiP49770.
    PeptideAtlasiP49770.
    PRIDEiP49770.

    PTM databases

    PhosphoSiteiP49770.

    Expressioni

    Gene expression databases

    ArrayExpressiP49770.
    BgeeiP49770.
    CleanExiHS_EIF2B2.
    GenevestigatoriP49770.

    Organism-specific databases

    HPAiHPA005841.
    HPA048028.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    BioGridi114409. 37 interactions.
    IntActiP49770. 6 interactions.
    STRINGi9606.ENSP00000266126.

    Structurei

    3D structure databases

    ProteinModelPortaliP49770.
    SMRiP49770. Positions 56-344.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG1184.
    HOGENOMiHOG000208487.
    HOVERGENiHBG051458.
    InParanoidiP49770.
    KOiK03754.
    OMAiRIITDHR.
    OrthoDBiEOG7N0C4T.
    PhylomeDBiP49770.
    TreeFamiTF101506.

    Family and domain databases

    InterProiIPR000649. IF-2B-related.
    [Graphical view]
    PfamiPF01008. IF-2B. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P49770-1 [UniParc]FASTAAdd to Basket

    « Hide

    MPGSAAKGSE LSERIESFVE TLKRGGGPRS SEEMARETLG LLRQIITDHR    50
    WSNAGELMEL IRREGRRMTA AQPSETTVGN MVRRVLKIIR EEYGRLHGRS 100
    DESDQQESLH KLLTSGGLNE DFSFHYAQLQ SNIIEAINEL LVELEGTMEN 150
    IAAQALEHIH SNEVIMTIGF SRTVEAFLKE AARKRKFHVI VAECAPFCQG 200
    HEMAVNLSKA GIETTVMTDA AIFAVMSRVN KVIIGTKTIL ANGALRAVTG 250
    THTLALAAKH HSTPLIVCAP MFKLSPQFPN EEDSFHKFVA PEEVLPFTEG 300
    DILEKVSVHC PVFDYVPPEL ITLFISNIGG NAPSYIYRLM SELYHPDDHV 350
    L 351
    Length:351
    Mass (Da):38,990
    Last modified:May 30, 2000 - v3
    Checksum:iC29FE477143F545A
    GO

    Sequence cautioni

    The sequence AAC42002.1 differs from that shown. Reason: Frameshift at several positions.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti6 – 61A → K in AAC42002. (PubMed:7596406)Curated
    Sequence conflicti23 – 231K → T in AAC42002. (PubMed:7596406)Curated
    Sequence conflicti30 – 301S → R in AAC42002. (PubMed:7596406)Curated
    Sequence conflicti35 – 351A → V in AAC42002. (PubMed:7596406)Curated
    Sequence conflicti52 – 521S → R in AAC42002. (PubMed:7596406)Curated
    Sequence conflicti95 – 1017RLHGRSD → DSMDAAT in AAC42002. (PubMed:7596406)Curated
    Sequence conflicti110 – 1101H → D in AAC42002. (PubMed:7596406)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti85 – 851V → E in VWM. 1 Publication
    VAR_068451
    Natural varianti171 – 1711S → F in VWM; with ovarian failure. 2 Publications
    VAR_016842
    Natural varianti196 – 1961P → S in VWM. 1 Publication
    VAR_068452
    Natural varianti200 – 2001G → V in VWM. 1 Publication
    VAR_068453
    Natural varianti213 – 2131E → G in VWM; with and without ovarian failure. 4 Publications
    VAR_012289
    Natural varianti268 – 2681C → Y in VWM. 1 Publication
    VAR_068454
    Natural varianti273 – 2731K → R in VWM. 1 Publication
    VAR_012321
    Natural varianti316 – 3161V → D in VWM. 1 Publication
    VAR_012290
    Natural varianti329 – 3291G → V in VWM. 1 Publication
    VAR_012322

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    UCSCiuc001xrc.2. human.

    Polymorphism databases

    DMDMi6226858.

    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:
    EMBL
    GenBank
    DDBJ
    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.

    3D structure databases

    ProteinModelPortali P49770.
    SMRi P49770. Positions 56-344.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114409. 37 interactions.
    IntActi P49770. 6 interactions.
    STRINGi 9606.ENSP00000266126.

    PTM databases

    PhosphoSitei P49770.

    Polymorphism databases

    DMDMi 6226858.

    Proteomic databases

    MaxQBi P49770.
    PaxDbi P49770.
    PeptideAtlasi P49770.
    PRIDEi P49770.

    Protocols and materials databases

    DNASUi 8892.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000266126 ; ENSP00000266126 ; ENSG00000119718 .
    GeneIDi 8892.
    KEGGi hsa:8892.
    UCSCi uc001xrc.2. human.

    Organism-specific databases

    CTDi 8892.
    GeneCardsi GC14P075469.
    GeneReviewsi EIF2B2.
    HGNCi HGNC:3258. EIF2B2.
    HPAi HPA005841.
    HPA048028.
    MIMi 603896. phenotype.
    606454. gene.
    neXtProti NX_P49770.
    Orphaneti 99854. Cree leukoencephalopathy.
    157716. Late infantile CACH syndrome.
    99853. Ovarioleukodystrophy.
    PharmGKBi PA27689.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1184.
    HOGENOMi HOG000208487.
    HOVERGENi HBG051458.
    InParanoidi P49770.
    KOi K03754.
    OMAi RIITDHR.
    OrthoDBi EOG7N0C4T.
    PhylomeDBi P49770.
    TreeFami TF101506.

    Enzyme and pathway databases

    Reactomei REACT_1815. Recycling of eIF2:GDP.

    Miscellaneous databases

    GeneWikii EIF2B2.
    GenomeRNAii 8892.
    NextBioi 33395.
    PROi P49770.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P49770.
    Bgeei P49770.
    CleanExi HS_EIF2B2.
    Genevestigatori P49770.

    Family and domain databases

    InterProi IPR000649. IF-2B-related.
    [Graphical view ]
    Pfami PF01008. IF-2B. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Yu W., Sarginson J., Gibbs R.A.
      Submitted (NOV-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Brain.
    3. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Lung.
    5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    7. Cited for: VARIANTS VWM GLY-213; ARG-273; ASP-316 AND VAL-329.
    8. Cited for: VARIANTS VWM PHE-171 AND GLY-213.
    9. "Identification of ten novel mutations in patients with eIF2B-related disorders."
      Ohlenbusch A., Henneke M., Brockmann K., Goerg M., Hanefeld F., Kohlschutter A., Gartner J.
      Hum. Mutat. 25:411-411(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS VWM PHE-171; SER-196; VAL-200 AND GLY-213.
    10. "Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5."
      Matsukawa T., Wang X., Liu R., Wortham N.C., Onuki Y., Kubota A., Hida A., Kowa H., Fukuda Y., Ishiura H., Mitsui J., Takahashi Y., Aoki S., Takizawa S., Shimizu J., Goto J., Proud C.G., Tsuji S.
      Neurogenetics 12:259-261(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT VWM GLU-85.
    11. "Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype."
      Alsalem A., Shaheen R., Alkuraya F.S.
      Gene 496:141-143(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT VWM TYR-268.
    12. "Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course."
      Sambati L., Agati R., Bacci A., Bianchi S., Capellari S.
      Neurol. Sci. 34:1235-1238(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT VWM GLY-213.

    Entry informationi

    Entry nameiEI2BB_HUMAN
    AccessioniPrimary (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: October 1, 2014
    This is version 126 of the entry and version 3 of the sequence. [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

    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3