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Homeobox protein Emx2 is a protein that in humans is encoded by the EMX2 gene.[5][6]

EMX2
Identifiers
AliasesEMX2, empty spiracles homeobox 2
External IDsMGI: 95388 HomoloGene: 3023 GeneCards: EMX2
Gene location (Human)
Chromosome 10 (human)
Chr.Chromosome 10 (human)[1]
Chromosome 10 (human)
Genomic location for EMX2
Genomic location for EMX2
Band10q26.11Start117,542,445 bp[1]
End117,549,546 bp[1]
RNA expression pattern
PBB GE EMX2 221950 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004098
NM_001165924

NM_010132

RefSeq (protein)

NP_001159396
NP_004089

NP_034262

Location (UCSC)Chr 10: 117.54 – 117.55 MbChr 19: 59.46 – 59.47 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Contents

FunctionEdit

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].[6]

The EMX2 gene encodes for a transcription factor that is a homolog to Drosophila melanogaster “empty spiracles” gene.[6] The “empty spiracles gene” is needed for the proper head development/formation as well as the development of posterior spiracles in Drosophila melanogaster.[7]

In humans, EMX2 shows high expression in the dorsal telencephalon, olfactory neuroepithelium, as well as the urogenetial system.[6] In the developing uroepithelium, EMX2 is negatively regulated by HOXA10.[6] EMX2 has been associated with Schizencephaly,[6] 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.[8] 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.[9]

See alsoEdit

ReferencesEdit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000170370 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000043969 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Kastury K, Druck T, Huebner K, Barletta C, Acampora D, Simeone A, Faiella A, Boncinelli E (Dec 1994). "Chromosome locations of human EMX and OTX genes". Genomics. 22 (1): 41–5. doi:10.1006/geno.1994.1343. PMID 7959790.
  6. ^ a b c d e f "EMX2 empty spiracles homeobox 2". Entrez Gene.
  7. ^ Walldorf U, Gehring WJ (June 1992). "Empty spiracles, a gap gene containing a homeobox involved in Drosophila head development". The EMBO Journal. 11 (6): 2247–59. PMC 556692. PMID 1376248.
  8. ^ "Schizencephaly". Genetic Testing Registry (GTR). National Center for Biotechnology Information, U.S. National Library of Medicine.
  9. ^ Zhang Y, Cao G, Yuan QG, Li JH, Yang WB (April 2017). "Empty Spiracles Homeobox 2 (EMX2) Inhibits the Invasion and Tumorigenesis in Colorectal Cancer Cells". Oncology Research. 25 (4): 537–544. doi:10.3727/096504016X14756640150695. PMID 27712600.

Further readingEdit

External linksEdit

This article incorporates text from the United States National Library of Medicine, which is in the public domain.