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FLASH GENE

Symbol

EGR2

contributors: mct/npt/pgu - updated : 09-04-2015

HGNC name	early growth response 2
HGNC id	3239

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CMT1D , CMT4E

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in ovarian tumor by hypermethylation in intron 1 constitutional     --over   of EGR1 and EGR2 controls natural killer T lineage differentiation in response to TCR signaling (Pubmed 22306690)

Susceptibility

to Ewing sarcoma

Variant & Polymorphism SNP	rs224278 associated with susceptibility to Ewing sarcoma

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Egr2-null mice die perinatally of respiratory insufficiency characterized by subnormal respiratory rate and severe apneas