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EIF2AK3

eukaryotic translation initiation factor 2 alpha kinase 3
2 disorders 1 untyped 1 causative 2p11.2 gene with protein product
HGNC:3255MonarchNCBI Gene 9451ENSG00000172071UniProt Q9NZJ5OMIM 604032

Aliases: PEK, PERK.

Normal function · from ai-gene-review (Q9NZJ5, commit 79fe13b38970) · AI-generated, not KB evidence

EIF2AK3 encodes PERK, an endoplasmic-reticulum-resident type I transmembrane stress-sensor kinase. Its luminal domain responds to misfolded proteins and ER stress activates the cytoplasmic kinase domain. PERK phosphorylates EIF2S1/eIF2alpha to attenuate translation initiation and promote the PERK arm of the unfolded protein response and integrated stress response. PERK also autophosphorylates on tyrosine as part of its activation and contributes to stress-dependent cell survival, differentiation, and apoptosis.

ER-membrane PERK phosphorylates EIF2S1/eIF2alpha to attenuate translation initiation during ER stress and drive the PERK arm of the integrated stress response.
molecular function: eukaryotic translation initiation factor 2alpha kinase activity · directly involved in: regulation of translation initiation in response to endoplasmic reticulum stress; PERK-mediated unfolded protein response · locations: endoplasmic reticulum membrane
The PERK luminal domain directly recognizes misfolded proteins, coupling ER protein-folding stress to activation of PERK-mediated UPR signaling.
molecular function: misfolded protein binding · directly involved in: PERK-mediated unfolded protein response · locations: endoplasmic reticulum membrane
In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Wolcott-Rallison Syndrome causative germline loss of function
mechanism: Biallelic EIF2AK3 Loss of Function
Diabetes mellitus untyped
Causative
mechanism: Monogenic Beta-Cell Dysfunction
scoped to subtype: monogenic diabetes

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.