| Entrez Gene ID | 1959 |
|---|---|
| Official Gene Symbol | EGR2 (GeneCards) |
| Full name | early growth response 2 |
| Location | 10q21.3 |
| Other ids | Vega : OTTHUMG00000018308 MIM : 129010 HGNC : HGNC:3239 Ensembl : ENSG00000122877 |
| Other names | AT591, CMT1D, CMT4E, KROX20 |
| Summary | The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 13948 | 1959 | EGR2 | 10 | 64743788 | 64743788 | Asymptomatic | HiSeq 2000 |
| 14845 | 1959 | EGR2 | 10 | 64591764 | 64591764 | Cockayne syndrome | HiSeq 2000 HiSeq X Ten |
| 14908 | 1959 | EGR2 | 10 | 64629275 | 64629275 | Xeroderma Pigmentosum | HiSeq 2000 HiSeq X Ten |
| 27107 | 1959 | EGR2 | 10 | 64727828 | 64727828 | Asymptomatic | HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning |
| 27158 | 1959 | EGR2 | 10 | 64740692 | 64740692 | Asymptomatic | HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning |