EMX2 empty spiracles homeobox 2 [Homo sapiens (human)]
| Gene Symbol | EMX2 |
| Entrez Gene ID | 2018 |
| Full Name | empty spiracles homeobox 2 |
| Synonyms | |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
10 10q26.1 |
| Summary | This gene encodes a homeobox-containing transcription factor that is the homolog to the 'empty spiracles' gene in Drosophila. Research on this gene in humans has focused on its expression in three tissues: dorsal telencephalon, olfactory neuroepithelium, and urogenetial system. It is expressed in the dorsal telencephalon during development in a low rostral-lateral to high caudal-medial gradient and is proposed to pattern the neocortex into defined functional areas. It is also expressed in embryonic and adult olfactory neuroepithelia where it complexes with eukaryotic translation initiation factor 4E (eIF4E) and possibly regulates mRNA transport or translation. In the developing urogenital system, it is expressed in epithelial tissues and is negatively regulated by HOXA10. Alternative splicing results in multiple transcript variants encoding distinct proteins. |
| Disorder | MIM: 600035 Schizencephaly, 269160 (3) |
| mRNA | NM_004098, 164607120 |
| Protein | NP_004089, 14149611 |
| Product | homeobox protein EMX2 isoform 1 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001165924, 260064071 |
| Protein | NP_001159396, 260064072 |
| Product | homeobox protein EMX2 isoform 2 |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | EMX2 | NP_004089.1 |
| Pan troglodytes (chimpanzee) | EMX2 | XP_001152098.1 |
| Canis lupus familiaris (dog) | EMX2 | XP_853333.1 |
| Bos taurus (cattle) | EMX2 | NP_001069313.1 |
| Mus musculus (house mouse) | Emx2 | NP_034262.2 |
| Rattus norvegicus (Norway rat) | Emx2 | XP_574698.1 |
| Gallus gallus (chicken) | EMX2 | XP_421783.2 |
| Danio rerio (zebrafish) | LOC100334611 | XP_002664193.1 |
| Danio rerio (zebrafish) | emx2 | NP_571355.2 |
| Drosophila melanogaster (fruit fly) | ems | NP_731868.1 |
| ID | Name | Evidence |
| GO:0006355 | regulation of transcription, DNA-dependent | IEA |
| GO:0007275 | multicellular organismal development | NAS |
| GO:0009952 | anterior/posterior pattern formation | IEA |
| GO:0021542 | dentate gyrus development | IEA |
| GO:0021796 | cerebral cortex regionalization | IEA |
| GO:0021846 | cell proliferation in forebrain | IEA |
| GO:0021885 | forebrain cell migration | IEA |
| GO:0030182 | neuron differentiation | IEA |
| GO:0042493 | response to drug | IEA |
Component
| ID | Name | Evidence |
| GO:0005634 | nucleus | NAS |
Function
| ID | Name | Evidence |
| GO:0003677 | DNA binding | NAS |
| GO:0003700 | sequence-specific DNA binding transcription factor activity | IEA |
| GO:0005515 | protein binding | IPI |
| GO:0043565 | sequence-specific DNA binding | IEA |
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