Entity Details

Primary name EI2BB_HUMAN
Entity type UniProt
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Details

AccessionP49770
EntryNameEI2BB_HUMAN
FullNameTranslation initiation factor eIF-2B subunit beta
TaxID9606
Evidenceevidence at protein level
Length351
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesEIF2B2

GO terms

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GOName
GO:0001541 ovarian follicle development
GO:0003743 translation initiation factor activity
GO:0005524 ATP binding
GO:0005525 GTP binding
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005851 eukaryotic translation initiation factor 2B complex
GO:0006413 translational initiation
GO:0006446 regulation of translational initiation
GO:0007417 central nervous system development
GO:0009408 response to heat
GO:0009749 response to glucose
GO:0014003 oligodendrocyte development
GO:0042552 myelination
GO:0043434 response to peptide hormone
GO:0050790 regulation of catalytic activity
GO:0050852 T cell receptor signaling pathway

Subcellular Location

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Domains

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DomainNameCategoryType
IPR000649 Initiation factor 2B-relatedFamilyFamily
IPR037171 NagB/RpiA transferase-likeFamilyHomologous superfamily
IPR042529 Initiation factor 2B-like, C-terminalFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
603896 OMIMLeukodystrophy with vanishing white matter (VWM)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. The disease is caused by variants affecting the gene represented in this entry.