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Aliases for EMX2 Gene

Aliases for EMX2 Gene

  • Empty Spiracles Homeobox 2 2 3
  • Empty Spiracles Homolog 2 (Drosophila) 2
  • Empty Spiracles-Like Protein 2 4
  • Empty Spiracles Homolog 2 4

External Ids for EMX2 Gene

Summaries for EMX2 Gene

Entrez Gene Summary for EMX2 Gene

  • 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]

GeneCards Summary for EMX2 Gene

EMX2 (Empty Spiracles Homeobox 2) is a Protein Coding gene. Diseases associated with EMX2 include schizencephaly and familial schizencephaly, emx2-related. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription regulatory region sequence-specific DNA binding. An important paralog of this gene is EN2.

UniProtKB/Swiss-Prot for EMX2 Gene

  • 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

Gene Wiki entry for EMX2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EMX2 Gene

Genomics for EMX2 Gene

Genomic Location for EMX2 Gene

117,542,444 bp from pter
117,549,546 bp from pter
7,103 bases
Plus strand

Genomic View for EMX2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EMX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EMX2 Gene

Regulatory Elements for EMX2 Gene

Proteins for EMX2 Gene

  • Protein details for EMX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Homeobox protein EMX2
    Protein Accession:
    Secondary Accessions:
    • G3V305
    • Q96NN8
    • Q9BQF4

    Protein attributes for EMX2 Gene

    252 amino acids
    Molecular mass:
    28303 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for EMX2 Gene


neXtProt entry for EMX2 Gene

Proteomics data for EMX2 Gene at MOPED

Post-translational modifications for EMX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EMX2 Gene

No data available for DME Specific Peptides for EMX2 Gene

Domains for EMX2 Gene

Gene Families for EMX2 Gene

  • NKL :Homeoboxes / ANTP class : NKL subclass


  • Contains 1 homeobox DNA-binding domain.:
    • Q04743
  • Belongs to the EMX homeobox family.:
    • Q04743
genes like me logo Genes that share domains with EMX2: view

Function for EMX2 Gene

Molecular function for EMX2 Gene

GENATLAS Biochemistry: Drosophila empty spiracles (ems) homolog 2,homeo domain encoding gene involved in brain development
UniProtKB/Swiss-Prot 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

Gene Ontology (GO) - Molecular Function for EMX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding --
GO:0005515 protein binding IPI 15247416
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with EMX2: view
genes like me logo Genes that share phenotypes with EMX2: view

Animal Models for EMX2 Gene

MGI Knock Outs for EMX2:

miRNA for EMX2 Gene

miRTarBase miRNAs that target EMX2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for EMX2 Gene

Localization for EMX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EMX2 Gene

Subcellular locations from

Jensen Localization Image for EMX2 Gene COMPARTMENTS Subcellular localization image for EMX2 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for EMX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with EMX2: view

Pathways for EMX2 Gene

SuperPathways for EMX2 Gene

No Data Available

Interacting Proteins for EMX2 Gene

Gene Ontology (GO) - Biological Process for EMX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007420 brain development --
GO:0009952 anterior/posterior pattern specification IEA --
GO:0010468 regulation of gene expression --
GO:0021542 dentate gyrus development IEA --
genes like me logo Genes that share ontologies with EMX2: view

No data available for Pathways by source for EMX2 Gene

Transcripts for EMX2 Gene

Unigene Clusters for EMX2 Gene

Empty spiracles homeobox 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EMX2 Gene

ExUns: 1a · 1b ^ 2 ^ 3
SP2: -

Relevant External Links for EMX2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EMX2 Gene

mRNA expression in normal human tissues for EMX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EMX2 Gene

This gene is overexpressed in Uterus (8.8), Fallopian Tube (5.7), Cervix - Endocervix (5.4), and Kidney - Cortex (4.6).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for EMX2 Gene

SOURCE GeneReport for Unigene cluster for EMX2 Gene Hs.202095

mRNA Expression by UniProt/SwissProt for EMX2 Gene

Tissue specificity: Cerebral cortex
genes like me logo Genes that share expressions with EMX2: view

Orthologs for EMX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for EMX2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia EMX2 36
  • 100 (n)
  • 100 (a)
EMX2 37
  • 100 (a)
(Bos Taurus)
Mammalia EMX2 36
  • 95.24 (n)
  • 99.6 (a)
EMX2 37
  • 99 (a)
(Canis familiaris)
Mammalia EMX2 36
  • 96.43 (n)
  • 100 (a)
EMX2 37
  • 100 (a)
(Mus musculus)
Mammalia Emx2 36
  • 94.18 (n)
  • 100 (a)
Emx2 16
Emx2 37
  • 100 (a)
(Monodelphis domestica)
Mammalia EMX2 37
  • 99 (a)
(Ornithorhynchus anatinus)
Mammalia EMX2 37
  • 97 (a)
(Rattus norvegicus)
Mammalia Emx2 36
  • 94.44 (n)
  • 100 (a)
(Gallus gallus)
Aves EMX2 36
  • 85.16 (n)
  • 97.98 (a)
EMX2 37
  • 91 (a)
(Anolis carolinensis)
Reptilia EMX2 37
  • 87 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8697 36
tropical clawed frog
(Silurana tropicalis)
Amphibia emx2 36
  • 80.97 (n)
  • 95.14 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7487 36
(Danio rerio)
Actinopterygii emx2 36
  • 75.71 (n)
  • 94.33 (a)
emx2 37
  • 95 (a)
fruit fly
(Drosophila melanogaster)
Insecta E5 37
  • 21 (a)
ems 37
  • 21 (a)
(Caenorhabditis elegans)
Secernentea ceh-2 37
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 38 (a)
Species with no ortholog for EMX2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EMX2 Gene

Gene Tree for EMX2 (if available)
Gene Tree for EMX2 (if available)

Paralogs for EMX2 Gene

Paralogs for EMX2 Gene

Selected SIMAP similar genes for EMX2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with EMX2: view

Variants for EMX2 Gene

Sequence variations from dbSNP and Humsavar for EMX2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs447520 -- 117,548,578(+) aaagC(G/T)GAACG utr-variant-3-prime
rs740734 -- 117,547,867(+) AGCTG(C/G)GCTTC intron-variant
rs855768 -- 117,547,956(-) AAGAC(C/T)CAGCC intron-variant
rs2240776 -- 117,548,013(-) CTTCT(A/T)TCAAG intron-variant
rs11814647 -- 117,548,531(+) gggag(A/G)gagag utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for EMX2 Gene

Variant ID Type Subtype PubMed ID
nsv825579 CNV Gain 20364138
nsv832003 CNV Loss 17160897
nsv520464 CNV Loss 19592680

Relevant External Links for EMX2 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

Disorders for EMX2 Gene

(1) OMIM Diseases for EMX2 Gene (600035)


  • Schizencephaly (SCHZC) [MIM:269160]: 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. {ECO:0000269 PubMed:8528262}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for EMX2 Gene

(4) Novoseek inferred disease relationships for EMX2 Gene

Disease -log(P) Hits PubMed IDs
schizencephaly 93.9 12
endometriosis 31.9 10
tumors 4.78 3
ischemia 0 1

Genatlas disease for EMX2 Gene


Relevant External Links for EMX2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with EMX2: view

Publications for EMX2 Gene

  1. Chromosome locations of human EMX and OTX genes. (PMID: 7959790) Kastury K. … Boncinelli E. (Genomics 1994) 2 3 23
  2. Comprehensive EMX2 genotyping of a large schizencephaly case series. (PMID: 17506092) Tietjen I. … Walsh C.A. (Am. J. Med. Genet. A 2007) 3 23 49
  3. Variants in EMX2 and PTEN do not contribute to risk of endometriosis. (PMID: 17563403) Treloar S.A. … Montgomery G.W. (Mol. Hum. Reprod. 2007) 3 23 49
  4. Transcriptional repression of peri-implantation EMX2 expression in mammalian reproduction by HOXA10. (PMID: 12482956) Troy P.J. … Taylor H.S. (Mol. Cell. Biol. 2003) 3 23
  5. Antisense transcripts at the EMX2 locus in human and mouse. (PMID: 12573261) Noonan F.C. … Simon T.C. (Genomics 2003) 3 23

Products for EMX2 Gene

Sources for EMX2 Gene

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