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EMX2

EMX2

The information on this page was automatically extracted from online scientific databases.

What is the official name of the EMX2 gene?

The official name of this gene is “empty spiracles homeobox 2.”

EMX2 is the gene's official symbol. The EMX2 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the EMX2 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProtThis link leads to a site outside Genetics Home Reference.:

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.

How are changes in the EMX2 gene related to health conditions?

UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the EMX2 gene's known or predicted involvement in human disease.

Schizencephaly (SCHZC): 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. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the EMX2 gene.
  • Schizencephaly
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the EMX2 gene and its association with health conditions.
OMIM
Number
Title

Where is the EMX2 gene located?

Cytogenetic Location: 10q26.1

Molecular Location on chromosome 10: base pairs 117,542,444 to 117,549,545

The EMX2 gene is located on the long (q) arm of chromosome 10 at position 26.1.

The EMX2 gene is located on the long (q) arm of chromosome 10 at position 26.1.

More precisely, the EMX2 gene is located from base pair 117,542,444 to base pair 117,549,545 on chromosome 10.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about EMX2?

You and your healthcare professional may find the following resources about EMX2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding EMX2?

alternative splicing ; caudal ; cell ; central nervous system ; congenital ; embryonic ; epithelial ; expressed ; gene ; homeobox ; mRNA ; nervous system ; splicing ; transcript ; transcription ; transcription factor ; translation

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: November 17, 2014