Human Gene EMX2 (ENST00000553456.5) from GENCODE V44
Description: Homo sapiens empty spiracles homeobox 2 (EMX2), transcript variant 1, mRNA. (from RefSeq NM_004098) RefSeq Summary (NM_004098): 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]. Gencode Transcript: ENST00000553456.5 Gencode Gene: ENSG00000170370.12 Transcript (Including UTRs) Position: hg38 chr10:117,542,746-117,549,546 Size: 6,801 Total Exon Count: 3 Strand: + Coding Region Position: hg38 chr10:117,543,268-117,548,232 Size: 4,965 Coding Exon Count: 3
ID:EMX2_HUMAN DESCRIPTION: RecName: Full=Homeobox protein EMX2; AltName: Full=Empty spiracles homolog 2; AltName: Full=Empty spiracles-like protein 2; FUNCTION: 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. INTERACTION: P06730:EIF4E; NbExp=4; IntAct=EBI-399831, EBI-73440; SUBCELLULAR LOCATION: Nucleus (Probable). TISSUE SPECIFICITY: Cerebral cortex. DISEASE: Defects in EMX2 are the cause of schizencephaly (SCHZC) [MIM:269160]. Schizencephaly is an 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. SIMILARITY: Belongs to the EMX homeobox family. SIMILARITY: Contains 1 homeobox DNA-binding domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EMX2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q04743
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.