EMX2
Identifiers
Aliases	EMX2, empty spiracles homeobox 2
External IDs	OMIM: 600035 MGI: 95388 HomoloGene: 3023 GeneCards: EMX2
Gene location (Mouse) Chr. Chromosome 19 (mouse)[1] Band 19 D3|19 56.28 cM Start 59,446,804 bp[1] End 59,453,789 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus epididymis caput epididymis seminal vesicula ganglionic eminence canal of the cervix kidney tubule myometrium right uterine tube endometrium germinal epithelium Top expressed in uterine tube cervix connecting tubule vas deferens ovary upper respiratory tract nose olfactory epithelium hand cumulus cell More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sequence-specific DNA binding DNA binding protein binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process cerebral cortex development multicellular organism development regulation of gene expression renal system development forebrain development brain development regulation of transcription, DNA-templated cell proliferation in forebrain forebrain cell migration cerebral cortex regionalization neuron differentiation anterior/posterior pattern specification dentate gyrus development regulation of transcription by RNA polymerase II ureter morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2018 13797 Ensembl n/a ENSMUSG00000043969 UniProt Q04743 Q04744 RefSeq (mRNA) NM_004098 NM_001165924 NM_010132 RefSeq (protein) NP_001159396 NP_004089 NP_034262 Location (UCSC) n/a Chr 19: 59.45 – 59.45 Mb PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Homeobox protein Emx2 is a protein that in humans is encoded by the EMX2 gene.^[4][5]

Function

The homeodomain transcription 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]