EMX2

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.[provided by RefSeq, Sep 2009]

Full Name

Empty Spiracles Homeobox 2

Research Area

Transcription factor, which in cooperation with EMX2, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combinations with OTX1/2 to specify cell fates in the developing central nervous system.

Biological Process

Anterior/posterior pattern specification Source: Ensembl
Brain development Source: GO_Central
Cell proliferation in forebrain Source: Ensembl
Central nervous system development Source: GO_Central
Cerebral cortex regionalization Source: Ensembl
Dentate gyrus development Source: Ensembl
Forebrain cell migration Source: Ensembl
Neuron differentiation Source: GO_Central
Regulation of transcription by RNA polymerase II Source: GO_Central
Response to drug Source: Ensembl
Ureter morphogenesis Source: Ensembl

Cellular Location

Nucleus

Involvement in disease

Schizencephaly (SCHZC):
Extremely rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. These clefts are lined with gray matter and most commonly involve the parasylvian regions. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid.