Disease-gene associations mined from literature

Literature associating DNAJC3 and autosomal dominant severe congenital neutropenia

DNAJC3 [ENSP00000473631]

Interferon-induced, double-stranded RNA-activated protein kinase inhibitor; Involved in the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Acts as a negative regulator of the EIF2AK4/GCN2 kinase activity by preventing the phosphorylation of eIF-2-alpha at 'Ser-52' and hence attenuating general protein synthesis under ER stress, hypothermic and amino acid starving stress conditions (By similarity). Co-chaperone of HSPA8/HSC70, it stimulates its ATPase activity. May inhibit both the autophosphorylation of EIF2AK2/PKR and the ability of EIF2AK2 to catalyze phosphorylation of the EIF2A. May inhibit EIF2AK3/PERK activity; DNAJ heat shock proteins

Synonyms:  DNAJC3,  DNAJC3p,  hDNAJC3,  A8KA82,  DNAJC3-001 ...

Linkouts:  STRING  Pharos  UniProt