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FLASH GENE

Symbol

EGR1

contributors: mct/shn - updated : 09-11-2018

HGNC name	early growth response 1
HGNC id	3238

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed diabete type 2   new therapeutic target for increasing insulin sensitivity: inhibiting the function of EGR1 cancer hemopathy   could be a source of novel targets for therapeutic intervention in lymphoid tumors in which MMP9 plays a critical role neurology neurodegenerative alzheimer inhibition of EGR1 may be a therapeutic approach for AD blood hemoglobin   new therapeutic target, for attenuation of elevated leukotriene levels in patients with sickle cell disease immunology inflammatory   new therapeutic target, for attenuation of elevated leukotriene levels in patients with inflammatory diseases neurology neurodegenerative alzheimer 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 (