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FLASH GENE
Symbol EGR1 contributors: mct/shn - updated : 09-11-2015
HGNC name early growth response 1
HGNC id 3238
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
in prostate carcinoma
tumoral       gain of function
differentially up-regulated in germ cells teratomas
constitutional somatic mutation      
haploinsufficiency for EGR1 plays a role in leukemogenesis, and in the development of myeloid disorders characterized by abnormalities of chromosome 5
constitutional     --over  
in Alzheimer Disease brain, increased levels of EGR1 aberrantly activate an EGR1/CDK5/PP1 pathway, leading to accumulation of hyperphosphorylated MAPT, thus destabilizing the microtubule cytoskeleton
constitutional     --over  
of EGR1 and EGR2 controls natural killer T lineage differentiation in response to TCR signaling
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
diabetetype 2 
new therapeutic target for increasing insulin sensitivity: inhibiting the function of EGR1
cancerhemopathy 
could be a source of novel targets for therapeutic intervention in lymphoid tumors in which MMP9 plays a critical role
neurologyneurodegenerativealzheimer
inhibition of EGR1 may be a therapeutic approach for AD
bloodhemoglobin 
new therapeutic target, for attenuation of elevated leukotriene levels in patients with sickle cell disease
immunologyinflammatory 
new therapeutic target, for attenuation of elevated leukotriene levels in patients with inflammatory diseases
neurologyneurodegenerativealzheimer
EGR1 is a potential therapeutic target for Alzheimer disease
ANIMAL & CELL MODELS
  • NGFI-A-deficient mice derived from embryonic stem cells demonstrated female infertility that was secondary to LH-beta deficiency (
  • repression of Egr-1 expression drastically inhibits UVB-mediated cell death (
  • Egr-1 knockout mice had longer eyes and a relative myopic shift in refraction, with additional minor effects on anterior chamber depth and corneal radius of curvature (
  • Egr1(+/-) and Egr1(-/-) mice treated with ENU developed immature T-cell lymphomas (CD4(+), CD8(+)) or a myeloproliferative disorder characterized by an elevated white blood cell count, anemia, and thrombocytopenia with ineffective erythropoiesis at increased rates and with shorter latencies than that of wild-type littermates (