Homeobox protein Emx2 is a
protein that in humans is encoded by the EMX2gene.[4][5]
Function
The
homeodomaintranscription factor EMX2 is critical for central nervous system and urogenital development.
EMX1 (MIM 600034) and EMX2 are related to the 'empty spiracles' gene expressed in the developing Drosophila head.[supplied by OMIM].[5]
The EMX2 gene encodes for a transcription factor that is a homolog to
Drosophila melanogaster “empty spiracles” gene.[5] The “empty spiracles gene” is needed for the proper head development/formation as well as the development of posterior spiracles in
Drosophila melanogaster.[6]
In humans, EMX2 shows high expression in the dorsal
telencephalon, olfactory neuroepithelium, as well as the urogenital system.[5] In the developing uroepithelium, EMX2 is negatively regulated by
HOXA10.[5] EMX2 has been associated with
Schizencephaly,[5] a disease where there are large parts of the brain hemispheres absent and that are replaced with cerebrospinal fluid, clinical observations can include seizures, blindness, and inability to walk/speak.[7] EMX2 has also been shown to have an important role in tumorigenesis. One study found that the expression of EMX2 is significantly decreased in tissues and cells with colorectal cancer. It is suspected that EMX2 could be used as a treatment of colorectal cancer.[8]
Brunelli S, Faiella A, Capra V, et al. (1996). "Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly". Nat. Genet. 12 (1): 94–6.
doi:
10.1038/ng0196-94.
PMID8528262.
S2CID339074.
Noonan FC, Mutch DG, Ann Mallon M, Goodfellow PJ (2001). "Characterization of the homeodomain gene EMX2: sequence conservation, expression analysis, and a search for mutations in endometrial cancers". Genomics. 76 (1–3): 37–44.
doi:
10.1006/geno.2001.6590.
PMID11549315.
Noonan FC, Goodfellow PJ, Staloch LJ, et al. (2003). "Antisense transcripts at the EMX2 locus in human and mouse". Genomics. 81 (1): 58–66.
doi:
10.1016/S0888-7543(02)00023-X.
PMID12573261.