EN2 - engrailed homeobox 2 Gene
Species: Homo sapiens
About EN2
This gene has 1 transcript (splice variant), 212 orthologues, 3 paralogues and is associated with 1 phenotype. Low expression observed in reference dataset.
Summary
Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq, Jul 2008]
EN2 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_001427.4 | NP_001418.2 | homeobox protein engrailed-2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
EN2 Protein Structure
Homeobox: Homeobox domain (245 - 301)
Engrail_1_C_sig: Engrailed homeobox C-terminal signature domain (302 - 333)
- 0
- 100
- 200
- 300
- 333 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
homeobox protein engrailed-2 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cerebellar Hypoplasia |
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| Autism |
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| Hyperinsulinemic Hypoglycemia, Familial, 4 |
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| Currarino Syndrome |
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| Autism Spectrum Disorder |
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| Keratomalacia |
|
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| Sacral Defect With Anterior Meningocele |
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| Parkinson Disease, Late-Onset |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | EN2 | VGNC | VGNC:51801 |
| Bos taurus | EN2 | VGNC | VGNC:106724 |
| Felis catus | EN2 | VGNC | VGNC:102580 |
| Rattus norvegicus | EN2 | RGD | RGD:1561842 |
| Mus musculus | EN2 | MGD | MGI:95390 |
| Macaca mulatta | EN2 | VGNC | VGNC:108398 |
| Others | EN2 | NCBI |