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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Homeobox protein Emx2''' is a [[protein]] that in humans is encoded by the ''EMX2'' [[gene]].<ref name="pmid7959790">{{cite journal | vauthors = Kastury K, Druck T, Huebner K, Barletta C, Acampora D, Simeone A, Faiella A, Boncinelli E | title = Chromosome locations of human EMX and OTX genes | journal = Genomics | volume = 22 | issue = 1 | pages = 41–5 |date=Dec 1994 | pmid = 7959790 | pmc =  | doi = 10.1006/geno.1994.1343 }}</ref><ref name="entrez">{{cite web | work = Entrez Gene | title = EMX2 empty spiracles homeobox 2 | url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2018| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
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].<ref name="entrez" />
| image =
| image_source =
| PDB =  
| Name = Empty spiracles homeobox 2
| HGNCid = 3341
| Symbol = EMX2
| AltSymbols =;
| OMIM = 600035
| ECnumber = 
| Homologene = 3023
| MGIid = 95388
| GeneAtlas_image1 = PBB_GE_EMX2_221950_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0043565 |text = sequence-specific DNA binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}} {{GNF_GO|id=GO:0009952 |text = anterior/posterior pattern formation}} {{GNF_GO|id=GO:0030182 |text = neuron differentiation}} {{GNF_GO|id=GO:0030900 |text = forebrain development}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2018
    | Hs_Ensembl = ENSG00000170370
    | Hs_RefseqProtein = NP_004089
    | Hs_RefseqmRNA = NM_004098
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 10
    | Hs_GenLoc_start = 119291946
    | Hs_GenLoc_end = 119299047
    | Hs_Uniprot = Q04743
    | Mm_EntrezGene = 13797
    | Mm_Ensembl = ENSMUSG00000043969
    | Mm_RefseqmRNA = NM_010132
    | Mm_RefseqProtein = NP_034262
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 19
    | Mm_GenLoc_start = 59512466
    | Mm_GenLoc_end = 59517297
    | Mm_Uniprot = Q04744
  }}
}}
'''Empty spiracles homeobox 2''', also known as '''EMX2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: EMX2 empty spiracles homeobox 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2018| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
The EMX2 gene encodes for a transcription factor that is a homolog to [[Drosophila melanogaster]] “empty spiracles” gene.<ref name="entrez" /> The “empty spiracles gene” is needed for the proper head development/formation as well as the development of posterior spiracles in [[Drosophila melanogaster]].<ref name="pmid1376248">{{cite journal | vauthors = Walldorf U, Gehring WJ | title = Empty spiracles, a gap gene containing a homeobox involved in Drosophila head development | journal = The EMBO Journal | volume = 11 | issue = 6 | pages = 2247–59 | date = June 1992 | pmid = 1376248 | pmc = 556692 | doi = }}</ref>
{{PBB_Summary
 
| section_title =  
In humans, EMX2 shows high expression in the dorsal [[telencephalon]], olfactory neuroepithelium, as well as the urogenetial system.<ref name = "entrez" /> In the developing uroepithelium, EMX2 is negatively regulated by [[HOXA10]].<ref name="entrez" /> EMX2 has been associated with [[Schizencephaly]],<ref name="entrez" /> 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.<ref>{{cite web | title = Schizencephaly | work = Genetic Testing Registry (GTR) | publisher = National Center for Biotechnology Information, U.S. National Library of Medicine | url = https://www.ncbi.nlm.nih.gov/gtr/conditions/C0266484/ }}</ref> 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.<ref name="pmid27712600">{{cite journal | vauthors = Zhang Y, Cao G, Yuan QG, Li JH, Yang WB | title = Empty Spiracles Homeobox 2 (EMX2) Inhibits the Invasion and Tumorigenesis in Colorectal Cancer Cells | journal = Oncology Research | volume = 25 | issue = 4 | pages = 537–544 | date = April 2017 | pmid = 27712600 | doi = 10.3727/096504016X14756640150695 }}</ref>
| summary_text = 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]<ref name="entrez">{{cite web | title = Entrez Gene: EMX2 empty spiracles homeobox 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2018| accessdate = }}</ref>
 
}}
== See also ==
* [[EMX1]]


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal  | vauthors=Guerrini R, Carrozzo R |title=Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing |journal=Seizure : the journal of the British Epilepsy Association |volume=11 Suppl A |issue=  |pages= 532–43; quiz 544–7 |year= 2002 |pmid= 12185771 |doi=  10.1053/seiz.2001.0650}}
| citations =
*{{cite journal  | vauthors=Simeone A, Gulisano M, Acampora D |title=Two vertebrate homeobox genes related to the Drosophila empty spiracles gene are expressed in the embryonic cerebral cortex |journal=EMBO J. |volume=11 |issue= 7 |pages= 2541–50 |year= 1992 |pmid= 1352754 |doi=  | pmc=556729  |display-authors=etal}}
*{{cite journal  | author=Guerrini R, Carrozzo R |title=Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing. |journal=Seizure : the journal of the British Epilepsy Association |volume=11 Suppl A |issue=  |pages= 532-43; quiz 544-7 |year= 2002 |pmid= 12185771 |doi=  }}
*{{cite journal  | vauthors=Brunelli S, Faiella A, Capra V |title=Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly |journal=Nat. Genet. |volume=12 |issue= 1 |pages= 94–6 |year= 1996 |pmid= 8528262 |doi= 10.1038/ng0196-94 |display-authors=etal}}
*{{cite journal  | author=Simeone A, Gulisano M, Acampora D, ''et al.'' |title=Two vertebrate homeobox genes related to the Drosophila empty spiracles gene are expressed in the embryonic cerebral cortex. |journal=EMBO J. |volume=11 |issue= 7 |pages= 2541-50 |year= 1992 |pmid= 1352754 |doi= }}
*{{cite journal  | vauthors=Wiemann S, Weil B, Wellenreuther R |title=Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs |journal=Genome Res. |volume=11 |issue= 3 |pages= 422–35 |year= 2001 |pmid= 11230166 |doi= 10.1101/gr.GR1547R  | pmc=311072 |display-authors=etal}}
*{{cite journal | author=Kastury K, Druck T, Huebner K, ''et al.'' |title=Chromosome locations of human EMX and OTX genes. |journal=Genomics |volume=22 |issue= 1 |pages= 41-5 |year= 1994 |pmid= 7959790 |doi= 10.1006/geno.1994.1343 }}
*{{cite journal  | vauthors=Noonan FC, Mutch DG, Ann Mallon M, Goodfellow PJ |title=Characterization of the homeodomain gene EMX2: sequence conservation, expression analysis, and a search for mutations in endometrial cancers |journal=Genomics |volume=76 |issue= 1–3 |pages= 37–44 |year= 2001 |pmid= 11549315 |doi= 10.1006/geno.2001.6590 }}
*{{cite journal  | author=Brunelli S, Faiella A, Capra V, ''et al.'' |title=Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. |journal=Nat. Genet. |volume=12 |issue= 1 |pages= 94-6 |year= 1996 |pmid= 8528262 |doi= 10.1038/ng0196-94 }}
*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Wiemann S, Weil B, Wellenreuther R, ''et al.'' |title=Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. |journal=Genome Res. |volume=11 |issue= 3 |pages= 422-35 |year= 2001 |pmid= 11230166 |doi= 10.1101/gr.154701 }}
*{{cite journal  | vauthors=Troy PJ, Daftary GS, Bagot CN, Taylor HS |title=Transcriptional repression of peri-implantation EMX2 expression in mammalian reproduction by HOXA10 |journal=Mol. Cell. Biol. |volume=23 |issue= 1 |pages= 1–13 |year= 2003 |pmid= 12482956 |doi=10.1128/MCB.23.1.1-13.2003  | pmc=140663 }}
*{{cite journal  | author=Noonan FC, Mutch DG, Ann Mallon M, Goodfellow PJ |title=Characterization of the homeodomain gene EMX2: sequence conservation, expression analysis, and a search for mutations in endometrial cancers. |journal=Genomics |volume=76 |issue= 1-3 |pages= 37-44 |year= 2001 |pmid= 11549315 |doi= 10.1006/geno.2001.6590 }}
*{{cite journal  | vauthors=Noonan FC, Goodfellow PJ, Staloch LJ |title=Antisense transcripts at the EMX2 locus in human and mouse |journal=Genomics |volume=81 |issue= 1 |pages= 58–66 |year= 2003 |pmid= 12573261 |doi=10.1016/S0888-7543(02)00023-X |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
*{{cite journal  | author=Troy PJ, Daftary GS, Bagot CN, Taylor HS |title=Transcriptional repression of peri-implantation EMX2 expression in mammalian reproduction by HOXA10. |journal=Mol. Cell. Biol. |volume=23 |issue= 1 |pages= 1-13 |year= 2003 |pmid= 12482956 |doi=  }}
*{{cite journal  | vauthors=Daftary GS, Taylor HS |title=EMX2 gene expression in the female reproductive tract and aberrant expression in the endometrium of patients with endometriosis |journal=J. Clin. Endocrinol. Metab. |volume=89 |issue= 5 |pages= 2390–6 |year= 2004 |pmid= 15126568 |doi=10.1210/jc.2003-031389 }}
*{{cite journal  | author=Noonan FC, Goodfellow PJ, Staloch LJ, ''et al.'' |title=Antisense transcripts at the EMX2 locus in human and mouse. |journal=Genomics |volume=81 |issue= 1 |pages= 58-66 |year= 2003 |pmid= 12573261 |doi=  }}
*{{cite journal  | vauthors=Nédélec S, Foucher I, Brunet I |title=Emx2 homeodomain transcription factor interacts with eukaryotic translation initiation factor 4E (eIF4E) in the axons of olfactory sensory neurons |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 29 |pages= 10815–20 |year= 2004 |pmid= 15247416 |doi= 10.1073/pnas.0403824101 | pmc=490017 |display-authors=etal}}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | vauthors=Hamasaki T, Leingärtner A, Ringstedt T, O'Leary DD |title=EMX2 regulates sizes and positioning of the primary sensory and motor areas in neocortex by direct specification of cortical progenitors |journal=Neuron |volume=43 |issue= 3 |pages= 359–72 |year= 2004 |pmid= 15294144 |doi= 10.1016/j.neuron.2004.07.016 }}
*{{cite journal  | author=Daftary GS, Taylor HS |title=EMX2 gene expression in the female reproductive tract and aberrant expression in the endometrium of patients with endometriosis. |journal=J. Clin. Endocrinol. Metab. |volume=89 |issue= 5 |pages= 2390-6 |year= 2004 |pmid= 15126568 |doi=  }}
*{{cite journal  | vauthors=Treloar SA, Zhao ZZ, Le L |title=Variants in EMX2 and PTEN do not contribute to risk of endometriosis |journal=Mol. Hum. Reprod. |volume=13 |issue= 8 |pages= 587–94 |year= 2007 |pmid= 17563403 |doi= 10.1093/molehr/gam023 |display-authors=etal}}
*{{cite journal  | author=Nédélec S, Foucher I, Brunet I, ''et al.'' |title=Emx2 homeodomain transcription factor interacts with eukaryotic translation initiation factor 4E (eIF4E) in the axons of olfactory sensory neurons. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 29 |pages= 10815-20 |year= 2004 |pmid= 15247416 |doi= 10.1073/pnas.0403824101 }}
*{{cite journal  | author=Hamasaki T, Leingärtner A, Ringstedt T, O'Leary DD |title=EMX2 regulates sizes and positioning of the primary sensory and motor areas in neocortex by direct specification of cortical progenitors. |journal=Neuron |volume=43 |issue= 3 |pages= 359-72 |year= 2004 |pmid= 15294144 |doi= 10.1016/j.neuron.2004.07.016 }}
*{{cite journal  | author=Treloar SA, Zhao ZZ, Le L, ''et al.'' |title=Variants in EMX2 and PTEN do not contribute to risk of endometriosis. |journal=Mol. Hum. Reprod. |volume=13 |issue= 8 |pages= 587-94 |year= 2007 |pmid= 17563403 |doi= 10.1093/molehr/gam023 }}
}}
{{refend}}
{{refend}}


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* {{MeshName|EMX2+protein,+human}}
* {{MeshName|EMX2+protein,+human}}


{{NLM content}}
{{Transcription factors|g3}}


{{protein-stub}}
{{NLM content}}
{{Transcription factors}}
[[Category:Transcription factors]]
[[Category:Transcription factors]]
{{WikiDoc Sources}}
 
 
{{gene-10-stub}}

Latest revision as of 05:34, 23 April 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

n/a

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UniProt

n/a

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RefSeq (mRNA)

n/a

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Homeobox protein Emx2 is a protein that in humans is encoded by the EMX2 gene.[1][2]

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].[2]

The EMX2 gene encodes for a transcription factor that is a homolog to Drosophila melanogaster “empty spiracles” gene.[2] The “empty spiracles gene” is needed for the proper head development/formation as well as the development of posterior spiracles in Drosophila melanogaster.[3]

In humans, EMX2 shows high expression in the dorsal telencephalon, olfactory neuroepithelium, as well as the urogenetial system.[2] In the developing uroepithelium, EMX2 is negatively regulated by HOXA10.[2] EMX2 has been associated with Schizencephaly,[2] 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.[4] 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.[5]

See also

References

  1. ↑ 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.
  2. ↑ 2.0 2.1 2.2 2.3 2.4 2.5 "EMX2 empty spiracles homeobox 2". Entrez Gene.
  3. ↑ 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.
  4. ↑ "Schizencephaly". Genetic Testing Registry (GTR). National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ↑ 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 reading

External links

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


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