EMX2 Chromosome 10

Empty spiracles homeobox 2
6 variants 6 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
NKL subclass homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
10q26.11
Ensembl
ENSG00000170370
Associated Conditions (4)
Congenital hypogonadotropic hypogonadism
EMX2-related disorder
Inborn genetic diseases
Schizencephaly
Key Variants
All Variants (6)
RSID Category Clinical Significance Conditions
RS200981903 Health Risk Conflicting classifications of pathogenicity Congenital hypogonadotropic hypogonadism, EMX2-related disorder, Congenital hypogonadotropic hypogonadism
RS756693906 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1411887961 Health Risk Pathogenic Schizencephaly, Schizencephaly
RS1564751655 Health Risk Pathogenic Schizencephaly, Schizencephaly
RS2133969658 Health Risk Pathogenic Schizencephaly, Schizencephaly
RS755549724 Health Risk Pathogenic Schizencephaly, Schizencephaly
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