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P49770

- EI2BB_HUMAN

UniProt

P49770 - EI2BB_HUMAN

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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

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. 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
Complete GO annotation...

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
Complete GO annotation...

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.
Orphaneti157713. Congenital or early infantile CACH syndrome.
99854. Cree leukoencephalopathy.
157719. Juvenile or adult CACH syndrome.
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

BgeeiP49770.
CleanExiHS_EIF2B2.
ExpressionAtlasiP49770. baseline and differential.
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. 49 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

        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 AAC42002.1 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. 49 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 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.
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

Bgeei P49770.
CleanExi HS_EIF2B2.
ExpressionAtlasi P49770. baseline and differential.
Genevestigatori P49770.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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 29, 2014
This is version 127 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