| Symbol
| EGR1
| contributors: mct/shn - updated : 09-11-2018
|
| HGNC name
| early growth response 1
|
| HGNC id
| 3238
|
| 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 | |
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 |
| | | |
|
| 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 ( |