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Gene : EIF2B1 Homo sapiens

Name  ? eukaryotic translation initiation factor 2B subunit alpha Cytological Location  12q24.31
Brief Description  eukaryotic translation initiation factor 2B subunit alpha
Description  This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Oct 2009]
  • synonyms:
  • EIF-2Balpha,
  • EIF2B,
  • eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD),
  • EIF2BA,
  • NM_001414,
  • EIF2B,
  • OTTHUMG00000168696,
  • uc001ufm.4,
  • EIF2BA,
  • HGNC:3257,
  • X95648,
  • EIF2B1,
  • EIF-2B,
  • eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
  • identifiers:
  • 1967,
  • ENSG00000111361,
  • EIF2B1

Genome feature

Region: gene ? Length: 13281  
Location: 12:123620406-123633686 reverse strand Cyto location: 12q24.31


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Function

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1 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

1 Pathways

3753 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results