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Gene : EIF2AK3 Homo sapiens

Name  ? eukaryotic translation initiation factor 2 alpha kinase 3 Cytological Location  2p11.2
Brief Description  eukaryotic translation initiation factor 2 alpha kinase 3
Description  The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protein is thought to modulate mitochondrial function. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in this gene are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Sep 2015]
  • synonyms:
  • PEK,
  • WRS,
  • PERK,
  • EIF2AK3,
  • HGNC:3255,
  • NM_004836,
  • uc002stc.5,
  • OTTHUMG00000155046,
  • AF110146,
  • PERK,
  • PEK
  • identifiers:
  • 9451,
  • ENSG00000172071,
  • EIF2AK3

Genome feature

Region: gene ? Length: 70725  
Location: 2:88556740-88627464 reverse strand Cyto location: 2p11.2


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

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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]

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Expression

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Other

866 SN Ps

5 Cross References

20 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results