EIF2B2 | ENSG00000119718 | NCBI 8892

Details for: EIF2B2

Gene ID: 8892

Symbol: EIF2B2

Ensembl ID: ENSG00000119718

Description: eukaryotic translation initiation factor 2B subunit beta

Associated with

Cap-dependent translation initiation
(R-HSA-72737)
Eukaryotic translation initiation
(R-HSA-72613)
Metabolism of proteins
(R-HSA-392499)
Recycling of eif2:gdp
(R-HSA-72731)
Translation
(R-HSA-72766)
Atp binding
(GO:0005524)
Central nervous system development
(GO:0007417)
Cytoplasm
(GO:0005737)
Cytoplasmic translational initiation
(GO:0002183)
Cytosol
(GO:0005829)
Eukaryotic translation initiation factor 2b complex
(GO:0005851)
Gtp binding
(GO:0005525)
Guanyl-nucleotide exchange factor activity
(GO:0005085)
Myelination
(GO:0042552)
Oligodendrocyte development
(GO:0014003)
Ovarian follicle development
(GO:0001541)
Protein binding
(GO:0005515)
Regulation of translational initiation
(GO:0006446)
Response to glucose
(GO:0009749)
Response to heat
(GO:0009408)
Response to peptide hormone
(GO:0043434)
T cell receptor signaling pathway
(GO:0050852)
Translational initiation
(GO:0006413)
Translation initiation factor activity
(GO:0003743)

Other Information

Proteins

Translation initiation factor eIF2B subunit beta

Genular Protein ID: 4160899864

Symbol: EI2BB_HUMAN

Name: Translation initiation factor eIF2B subunit beta

UniProtKB Accession Codes:

P49770 O43201

Database IDs:

Citations:

PubMed ID: 7596406

Title: Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.

PubMed ID: 7596406

DOI: 10.1038/375754a0

PubMed ID: 12508121

Title: The DNA sequence and analysis of human chromosome 14.

PubMed ID: 12508121

DOI: 10.1038/nature01348

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 25858979

Title: Stress responses. Mutations in a translation initiation factor identify the target of a memory-enhancing compound.

PubMed ID: 25858979

DOI: 10.1126/science.aaa6986

PubMed ID: 27023709

Title: Expression, purification, and crystallization of Schizosaccharomyces pombe eIF2B.

PubMed ID: 27023709

DOI: 10.1007/s10969-016-9203-3

PubMed ID: 31048492

Title: Structural basis for eIF2B inhibition in integrated stress response.

PubMed ID: 31048492

DOI: 10.1126/science.aaw4104

PubMed ID: 11704758

Title: Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.

PubMed ID: 11704758

DOI: 10.1038/ng764

PubMed ID: 12707859

Title: Ovarian failure related to eukaryotic initiation factor 2B mutations.

PubMed ID: 12707859

DOI: 10.1086/375404

PubMed ID: 15776425

Title: Identification of ten novel mutations in patients with eIF2B-related disorders.

PubMed ID: 15776425

DOI: 10.1002/humu.9325

PubMed ID: 21484434

Title: Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.

PubMed ID: 21484434

DOI: 10.1007/s10048-011-0284-7

PubMed ID: 22285377

Title: Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype.

PubMed ID: 22285377

DOI: 10.1016/j.gene.2011.12.047

PubMed ID: 22729508

Title: Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.

PubMed ID: 22729508

DOI: 10.1007/s10072-012-1129-3

PubMed ID: 26740508

Title: Identification of novel genetic causes of Rett syndrome-like phenotypes.

PubMed ID: 26740508

DOI: 10.1136/jmedgenet-2015-103568

Sequence Information:

Length: 351
Mass: 38990
Checksum: C29FE477143F545A
Sequence:

MPGSAAKGSE LSERIESFVE TLKRGGGPRS SEEMARETLG LLRQIITDHR WSNAGELMEL 
IRREGRRMTA AQPSETTVGN MVRRVLKIIR EEYGRLHGRS DESDQQESLH KLLTSGGLNE 
DFSFHYAQLQ SNIIEAINEL LVELEGTMEN IAAQALEHIH SNEVIMTIGF SRTVEAFLKE 
AARKRKFHVI VAECAPFCQG HEMAVNLSKA GIETTVMTDA AIFAVMSRVN KVIIGTKTIL 
ANGALRAVTG THTLALAAKH HSTPLIVCAP MFKLSPQFPN EEDSFHKFVA PEEVLPFTEG 
DILEKVSVHC PVFDYVPPEL ITLFISNIGG NAPSYIYRLM SELYHPDDHV L

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: EIF2B2

Associated with

Other Information

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. PubMed ID: 7596406

The DNA sequence and analysis of human chromosome 14. PubMed ID: 12508121

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Initial characterization of the human central proteome. PubMed ID: 21269460

N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. PubMed ID: 22814378

Stress responses. Mutations in a translation initiation factor identify the target of a memory-enhancing compound. PubMed ID: 25858979

Expression, purification, and crystallization of Schizosaccharomyces pombe eIF2B. PubMed ID: 27023709

Structural basis for eIF2B inhibition in integrated stress response. PubMed ID: 31048492

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. PubMed ID: 11704758

Ovarian failure related to eukaryotic initiation factor 2B mutations. PubMed ID: 12707859

Identification of ten novel mutations in patients with eIF2B-related disorders. PubMed ID: 15776425

Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. PubMed ID: 21484434

Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype. PubMed ID: 22285377

Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course. PubMed ID: 22729508

Identification of novel genetic causes of Rett syndrome-like phenotypes. PubMed ID: 26740508