eif2ak3 Phenotypes

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Phenotypes

Gene Literature (7)

Nucleotides (221)

Interactants (188)

XB-GENEPAGE-989848

Gene Symbol: eif2ak3 Gene Name: eukaryotic translation initiation factor 2 alpha kinase 3

Expression Phenotypes Gene expression phenotype annotations where the gene of interest has been disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1, FDR <= 0.05 and an absolute LogFC >= 2.
Computed annotations: eif2ak3 assayed (3 sources)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (82 sources): Abnormal heart morphology, Abnormal pancreas morphology, Abnormality of epiphysis morphology, Abnormality of neuronal migration, Abnormality of the metaphysis, Acute hepatic failure, Barrel-shaped chest, Brachydactyly, Carpal bone hypoplasia, Chronic hepatic failure, Coma, Cone-shaped epiphyses of the phalanges of the hand, Coxa valga, Dehydration, Delayed skeletal maturation, Depressed nasal bridge, Elevated hepatic transaminase, Enlarged thorax, Epicanthus, Epiphyseal dysplasia, Exocrine pancreatic insufficiency, Flattened epiphysis, Gait disturbance, Genu valgum, Global developmental delay, Glycosuria, Hepatomegaly, High forehead, High palate, Hip dislocation, Hip subluxation, Hyperglycemia, Hyperlordosis, Hypermetropia, Hypertelorism, Hyperuricemia, Hypoglycemia, Hypoplasia of the odontoid process, Hypothyroidism, Hypotonia, Insulin-resistant diabetes mellitus, Intellectual disability, Intracerebral periventricular calcifications, Intrauterine growth retardation, Irregular carpal bones, Irregular tarsal ossification, Irregular vertebral endplates, Ivory epiphyses of the phalanges of the hand, Ivory epiphyses of the toes, Jaundice, Ketoacidosis, Kyphosis, Microcephaly, Microdontia, Motor delay, Multiple epiphyseal dysplasia, Narrow iliac wing, Nephropathy, Neurodevelopmental delay, Neutropenia, Osteopenia, Osteoporosis, Pancreatic hypoplasia, Platyspondyly, Preauricular pit, Recurrent fractures, Reduced pancreatic beta cells, Renal insufficiency, Renal tubular dysfunction, Seizure, Short stature, Short thorax, Shortening of all middle phalanges of the fingers, Small epiphyses, Spasticity, Steatorrhea, Thin vermilion border, Transient neonatal diabetes mellitus, Triangular face, Type I diabetes mellitus, Upslanted palpebral fissure, Weight loss [+]
Mouse (31 sources): abnormal exocrine pancreas morphology, abnormal hindlimb morphology, abnormal insulin secretion, abnormal osteoblast morphology, abnormal osteoblast physiology, abnormal pancreatic acinar cell morphology, abnormal pancreatic acinus morphology, abnormal pancreatic alpha cell morphology, abnormal pancreatic beta cell physiology, abnormal pancreatic islet morphology, abnormal vertebrae development, abnormal vertebral body morphology, absent pancreatic alpha cells, absent pancreatic beta cells, acute pancreas inflammation, decreased body size, decreased bone mineralization, decreased locomotor activity, exocrine pancreas atrophy, homeostasis/metabolism phenotype, hunched posture, increased circulating amylase level, increased osteoblast apoptosis, increased pancreatic alpha cell number, increased physiological sensitivity to xenobiotic, postnatal lethality, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, prenatal lethality, incomplete penetrance, small pancreas, small pancreatic islets [+]
View all ortholog results at Monarch