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Q9NR50

- EI2BG_HUMAN

UniProt

Q9NR50 - EI2BG_HUMAN

Protein

Translation initiation factor eIF-2B subunit gamma

Gene

EIF2B3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 123 (01 Oct 2014)
      Sequence version 1 (01 Oct 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. guanyl-nucleotide exchange factor activity Source: Ensembl
    2. nucleotidyltransferase activity Source: InterPro
    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. gene expression Source: Reactome
    4. negative regulation of translational initiation in response to stress Source: UniProtKB
    5. oligodendrocyte development Source: UniProtKB
    6. positive regulation of GTPase activity Source: GOC
    7. response to glucose Source: UniProtKB
    8. response to heat Source: UniProtKB
    9. response to peptide hormone Source: UniProtKB
    10. translation Source: Reactome
    11. 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 gamma
    Alternative name(s):
    eIF-2B GDP-GTP exchange factor subunit gamma
    Gene namesi
    Name:EIF2B3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:3259. EIF2B3.

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti27 – 271L → Q in VWM. 1 Publication
    VAR_068470
    Natural varianti47 – 471G → E in VWM. 1 Publication
    VAR_068471
    Natural varianti87 – 871A → V in VWM. 1 Publication
    VAR_015409
    Natural varianti225 – 2251R → Q in VWM. 2 Publications
    VAR_015410
    Natural varianti346 – 3461I → T in VWM. 1 Publication
    VAR_068472

    Keywords - Diseasei

    Disease mutation, Leukodystrophy

    Organism-specific databases

    MIMi603896. phenotype.
    Orphaneti99854. Cree leukoencephalopathy.
    157716. Late infantile CACH syndrome.
    99853. Ovarioleukodystrophy.
    PharmGKBiPA27690.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 452452Translation initiation factor eIF-2B subunit gammaPRO_0000156079Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine3 Publications

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ9NR50.
    PaxDbiQ9NR50.
    PRIDEiQ9NR50.

    2D gel databases

    REPRODUCTION-2DPAGEIPI00006504.

    PTM databases

    PhosphoSiteiQ9NR50.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9NR50.
    BgeeiQ9NR50.
    CleanExiHS_EIF2B3.
    GenevestigatoriQ9NR50.

    Organism-specific databases

    HPAiCAB032233.
    HPA024213.
    HPA024218.
    HPA024219.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    BioGridi114408. 30 interactions.
    IntActiQ9NR50. 5 interactions.
    MINTiMINT-3072682.
    STRINGi9606.ENSP00000353575.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NR50.
    SMRiQ9NR50. Positions 1-56, 345-378, 391-449.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG1208.
    HOVERGENiHBG051461.
    InParanoidiQ9NR50.
    KOiK03241.
    OMAiEGVKPRT.
    PhylomeDBiQ9NR50.
    TreeFamiTF101507.

    Family and domain databases

    Gene3Di3.90.550.10. 2 hits.
    InterProiIPR005835. NTP_transferase.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PfamiPF00483. NTP_transferase. 1 hit.
    [Graphical view]
    SUPFAMiSSF53448. SSF53448. 4 hits.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Note: Experimental confirmation may be lacking for some isoforms.

    Isoform 1 (identifier: Q9NR50-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MEFQAVVMAV GGGSRMTDLT SSIPKPLLPV GNKPLIWYPL NLLERVGFEE    50
    VIVVTTRDVQ KALCAEFKMK MKPDIVCIPD DADMGTADSL RYIYPKLKTD 100
    VLVLSCDLIT DVALHEVVDL FRAYDASLAM LMRKGQDSIE PVPGQKGKKK 150
    AVEQRDFIGV DSTGKRLLFM ANEADLDEEL VIKGSILQKH PRIRFHTGLV 200
    DAHLYCLKKY IVDFLMENGS ITSIRSELIP YLVRKQFSSA SSQQGQEEKE 250
    EDLKKKELKS LDIYSFIKEA NTLNLAPYDA CWNACRGDRW EDLSRSQVRC 300
    YVHIMKEGLC SRVSTLGLYM EANRQVPKLL SALCPEEPPV HSSAQIVSKH 350
    LVGVDSLIGP ETQIGEKSSI KRSVIGSSCL IKDRVTITNC LLMNSVTVEE 400
    GSNIQGSVIC NNAVIEKGAD IKDCLIGSGQ RIEAKAKRVN EVIVGNDQLM 450
    EI 452
    Length:452
    Mass (Da):50,240
    Last modified:October 1, 2000 - v1
    Checksum:i6F73137F59E52773
    GO
    Isoform 2 (identifier: Q9NR50-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         402-452: SNIQGSVICNNAVIEKGADIKDCLIGSGQRIEAKAKRVNEVIVGNDQLMEI → YVSPCTHLRQR

    Show »
    Length:412
    Mass (Da):46,145
    Checksum:i2D3F23DE8D1C6C5A
    GO
    Isoform 3 (identifier: Q9NR50-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         402-452: Missing.

    Show »
    Length:401
    Mass (Da):44,803
    Checksum:i3D643091793D31BF
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti356 – 3561S → G in BAB14770. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti27 – 271L → Q in VWM. 1 Publication
    VAR_068470
    Natural varianti47 – 471G → E in VWM. 1 Publication
    VAR_068471
    Natural varianti87 – 871A → V in VWM. 1 Publication
    VAR_015409
    Natural varianti225 – 2251R → Q in VWM. 2 Publications
    VAR_015410
    Natural varianti288 – 2881D → E.
    Corresponds to variant rs3738247 [ dbSNP | Ensembl ].
    VAR_048920
    Natural varianti346 – 3461I → T in VWM. 1 Publication
    VAR_068472

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei402 – 45251SNIQG…QLMEI → YVSPCTHLRQR in isoform 2. 1 PublicationVSP_001436Add
    BLAST
    Alternative sequencei402 – 45251Missing in isoform 3. 1 PublicationVSP_001435Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF257077 mRNA. Translation: AAF91351.1.
    AK024006 mRNA. Translation: BAB14770.1.
    AK314668 mRNA. Translation: BAG37225.1.
    AL834288 mRNA. Translation: CAD38962.1.
    AL136380 Genomic DNA. Translation: CAI23131.1.
    AL136380 Genomic DNA. Translation: CAI23132.1.
    CH471059 Genomic DNA. Translation: EAX07013.1.
    CH471059 Genomic DNA. Translation: EAX07015.1.
    BC018728 mRNA. Translation: AAH18728.1.
    CCDSiCCDS517.1. [Q9NR50-1]
    CCDS53313.1. [Q9NR50-2]
    RefSeqiNP_001160060.1. NM_001166588.2. [Q9NR50-2]
    NP_001248347.1. NM_001261418.1. [Q9NR50-3]
    NP_065098.1. NM_020365.4. [Q9NR50-1]
    UniGeneiHs.533549.

    Genome annotation databases

    EnsembliENST00000360403; ENSP00000353575; ENSG00000070785. [Q9NR50-1]
    ENST00000372183; ENSP00000361257; ENSG00000070785. [Q9NR50-2]
    GeneIDi8891.
    KEGGihsa:8891.
    UCSCiuc001cmt.3. human. [Q9NR50-1]
    uc001cmw.4. human. [Q9NR50-2]

    Polymorphism databases

    DMDMi18203317.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Mendelian genes eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa (EIF2B3)

    Leiden Open Variation Database (LOVD)

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF257077 mRNA. Translation: AAF91351.1 .
    AK024006 mRNA. Translation: BAB14770.1 .
    AK314668 mRNA. Translation: BAG37225.1 .
    AL834288 mRNA. Translation: CAD38962.1 .
    AL136380 Genomic DNA. Translation: CAI23131.1 .
    AL136380 Genomic DNA. Translation: CAI23132.1 .
    CH471059 Genomic DNA. Translation: EAX07013.1 .
    CH471059 Genomic DNA. Translation: EAX07015.1 .
    BC018728 mRNA. Translation: AAH18728.1 .
    CCDSi CCDS517.1. [Q9NR50-1 ]
    CCDS53313.1. [Q9NR50-2 ]
    RefSeqi NP_001160060.1. NM_001166588.2. [Q9NR50-2 ]
    NP_001248347.1. NM_001261418.1. [Q9NR50-3 ]
    NP_065098.1. NM_020365.4. [Q9NR50-1 ]
    UniGenei Hs.533549.

    3D structure databases

    ProteinModelPortali Q9NR50.
    SMRi Q9NR50. Positions 1-56, 345-378, 391-449.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114408. 30 interactions.
    IntActi Q9NR50. 5 interactions.
    MINTi MINT-3072682.
    STRINGi 9606.ENSP00000353575.

    PTM databases

    PhosphoSitei Q9NR50.

    Polymorphism databases

    DMDMi 18203317.

    2D gel databases

    REPRODUCTION-2DPAGE IPI00006504.

    Proteomic databases

    MaxQBi Q9NR50.
    PaxDbi Q9NR50.
    PRIDEi Q9NR50.

    Protocols and materials databases

    DNASUi 8891.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000360403 ; ENSP00000353575 ; ENSG00000070785 . [Q9NR50-1 ]
    ENST00000372183 ; ENSP00000361257 ; ENSG00000070785 . [Q9NR50-2 ]
    GeneIDi 8891.
    KEGGi hsa:8891.
    UCSCi uc001cmt.3. human. [Q9NR50-1 ]
    uc001cmw.4. human. [Q9NR50-2 ]

    Organism-specific databases

    CTDi 8891.
    GeneCardsi GC01M045316.
    GeneReviewsi EIF2B3.
    HGNCi HGNC:3259. EIF2B3.
    HPAi CAB032233.
    HPA024213.
    HPA024218.
    HPA024219.
    MIMi 603896. phenotype.
    606273. gene.
    neXtProti NX_Q9NR50.
    Orphaneti 99854. Cree leukoencephalopathy.
    157716. Late infantile CACH syndrome.
    99853. Ovarioleukodystrophy.
    PharmGKBi PA27690.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1208.
    HOVERGENi HBG051461.
    InParanoidi Q9NR50.
    KOi K03241.
    OMAi EGVKPRT.
    PhylomeDBi Q9NR50.
    TreeFami TF101507.

    Enzyme and pathway databases

    Reactomei REACT_1815. Recycling of eIF2:GDP.

    Miscellaneous databases

    GeneWikii EIF2B3.
    GenomeRNAii 8891.
    NextBioi 33391.
    PROi Q9NR50.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NR50.
    Bgeei Q9NR50.
    CleanExi HS_EIF2B3.
    Genevestigatori Q9NR50.

    Family and domain databases

    Gene3Di 3.90.550.10. 2 hits.
    InterProi IPR005835. NTP_transferase.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view ]
    Pfami PF00483. NTP_transferase. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53448. SSF53448. 4 hits.
    ProtoNeti Search...

    Publicationsi

    1. "Identification of eIF2B gamma and eIF2 gamma as cofactors of hepatitis C virus internal ribosome entry site-mediated translation using a functional genomics approach."
      Krueger M., Beger C., Li Q.-X., Welch P.J., Tritz R., Leavitt M., Barber J.R., Wong-Staal F.
      Proc. Natl. Acad. Sci. U.S.A. 97:8566-8571(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Testis.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Lymph node.
    4. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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] (ISOFORM 3).
      Tissue: Blood.
    7. Bienvenut W.V., Boldt K., von Kriegsheim A.F., Kolch W.
      Submitted (JUL-2007) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 1-15; 226-234 AND 260-268, ACETYLATION AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: Hepatoma.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
      Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
      Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. "Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter."
      van der Knaap M.S., Leegwater P.A.J., Koenst A.A.M., Visser A., Naidu S., Oudejans C.B.M., Schutgens R.B.H., Pronk J.C.
      Ann. Neurol. 51:264-270(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS VWM VAL-87 AND GLN-225.
    12. "Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease."
      Wu Y., Pan Y., Du L., Wang J., Gu Q., Gao Z., Li J., Leng X., Qin J., Wu X., Jiang Y.
      J. Hum. Genet. 54:74-77(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS VWM GLU-47; GLN-225 AND THR-346.
    13. "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 GLN-27.

    Entry informationi

    Entry nameiEI2BG_HUMAN
    AccessioniPrimary (citable) accession number: Q9NR50
    Secondary accession number(s): B2RBH8
    , D3DPZ2, Q5QP89, Q5QP90, Q8NDB5, Q8WV57, Q9H850
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 26, 2001
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 123 of the entry and version 1 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, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: 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