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Aliases for EMX2 Gene

Aliases for EMX2 Gene

  • Empty Spiracles Homeobox 2 2 3 5
  • Empty Spiracles Homolog 2 (Drosophila) 2
  • Empty Spiracles-Like Protein 2 4
  • Empty Spiracles Homolog 2 4

External Ids for EMX2 Gene

Previous GeneCards Identifiers for EMX2 Gene

  • GC10P118220
  • GC10P118545
  • GC10P119433
  • GC10P118966
  • GC10P119291
  • GC10P112930

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. 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

Regulatory Elements for EMX2 Gene

Promoters for EMX2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EMX2 on UCSC Golden Path with GeneCards custom track

Genomic Location for EMX2 Gene

Chromosome:
10
Start:
117,542,444 bp from pter
End:
117,549,546 bp from pter
Size:
7,103 bases
Orientation:
Plus strand

Genomic View for EMX2 Gene

Genes around EMX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EMX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EMX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EMX2 Gene

Proteins for EMX2 Gene

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

    Protein Symbol:
    Q04743-EMX2_HUMAN
    Recommended name:
    Homeobox protein EMX2
    Protein Accession:
    Q04743
    Secondary Accessions:
    • G3V305
    • Q96NN8
    • Q9BQF4

    Protein attributes for EMX2 Gene

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

    Alternative splice isoforms for EMX2 Gene

    UniProtKB/Swiss-Prot:

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

Antibody Products

No data available for DME Specific Peptides for EMX2 Gene

Domains & Families for EMX2 Gene

Gene Families for EMX2 Gene

Suggested Antigen Peptide Sequences for EMX2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q04743

UniProtKB/Swiss-Prot:

EMX2_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the EMX homeobox family.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the EMX homeobox family.
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.
genes like me logo Genes that share phenotypes with EMX2: view

Human Phenotype Ontology for EMX2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EMX2 Gene

MGI Knock Outs for EMX2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for EMX2 Gene

Localization for EMX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EMX2 Gene

Subcellular locations from

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

No data available for Gene Ontology (GO) - Cellular Components for EMX2 Gene

Pathways & Interactions 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 IEA --
GO:0009952 anterior/posterior pattern specification IEA --
GO:0021542 dentate gyrus development IEA --
GO:0021796 cerebral cortex regionalization IEA --
genes like me logo Genes that share ontologies with EMX2: view

No data available for Pathways by source and SIGNOR curated interactions for EMX2 Gene

Drugs & Compounds for EMX2 Gene

No Compound Related Data Available

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
SP1:
SP2: -

Relevant External Links for EMX2 Gene

GeneLoc Exon Structure for
EMX2
ECgene alternative splicing isoforms for
EMX2

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 (x8.8), Fallopian Tube (x5.7), Cervix - Endocervix (x5.4), and Kidney - Cortex (x4.6).

Protein differential expression in normal tissues from HIPED for EMX2 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

Q04743-EMX2_HUMAN
Tissue specificity: Cerebral cortex.
genes like me logo Genes that share expression patterns with EMX2: view

Protein tissue co-expression partners for EMX2 Gene

Primer Products

In Situ Assay Products

Orthologs for EMX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for EMX2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EMX2 35
  • 95.24 (n)
  • 99.6 (a)
EMX2 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EMX2 35
  • 96.43 (n)
  • 100 (a)
EMX2 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Emx2 35
  • 94.18 (n)
  • 100 (a)
Emx2 16
Emx2 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EMX2 35
  • 100 (n)
  • 100 (a)
EMX2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Emx2 35
  • 94.44 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia EMX2 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EMX2 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves EMX2 35
  • 85.16 (n)
  • 97.98 (a)
EMX2 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EMX2 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia emx2 35
  • 80.97 (n)
  • 95.14 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8697 35
zebrafish
(Danio rerio)
Actinopterygii emx2 35
  • 75.71 (n)
  • 94.33 (a)
emx2 36
  • 95 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7487 35
fruit fly
(Drosophila melanogaster)
Insecta E5 36
  • 21 (a)
ManyToMany
ems 36
  • 21 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-2 36
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToMany
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

ENSEMBL:
Gene Tree for EMX2 (if available)
TreeFam:
Gene Tree for EMX2 (if available)

Paralogs for EMX2 Gene

Paralogs for EMX2 Gene

(2) 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
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

Variation tolerance for EMX2 Gene

Residual Variation Intolerance Score: 38.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.53; 11.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EMX2 Gene

HapMap Linkage Disequilibrium report
EMX2
Human Gene Mutation Database (HGMD)
EMX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EMX2 Gene

Disorders for EMX2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for EMX2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
schizencephaly
  • familial schizencephaly
familial schizencephaly, emx2-related
neuronal migration disorders
  • malformations of cortical development, group ii
pseudobulbar palsy
  • pseudobulbar paralysis
periventricular nodular heterotopia
  • paroxysmal nocturnal hemoglobinuria
- elite association - COSMIC cancer census association via MalaCards
Search EMX2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EMX2_HUMAN
  • 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.

Genatlas disease for EMX2 Gene

schizencephaly,severe

Relevant External Links for EMX2

Genetic Association Database (GAD)
EMX2
Human Genome Epidemiology (HuGE) Navigator
EMX2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EMX2
genes like me logo Genes that share disorders with EMX2: view

Publications for EMX2 Gene

  1. Comprehensive EMX2 genotyping of a large schizencephaly case series. (PMID: 17506092) Tietjen I. … Walsh C.A. (Am. J. Med. Genet. A 2007) 3 23 48 67
  2. Chromosome locations of human EMX and OTX genes. (PMID: 7959790) Kastury K. … Boncinelli E. (Genomics 1994) 2 3 23
  3. No major role for the EMX2 gene in schizencephaly. (PMID: 18409201) Merello E. … Dobyns W.B. (Am. J. Med. Genet. A 2008) 3 23
  4. Progressive loss of PAX6, TBR2, NEUROD and TBR1 mRNA gradients correlates with translocation of EMX2 to the cortical plate during human cortical development. (PMID: 18973570) Bayatti N. … Clowry G.J. (Eur. J. Neurosci. 2008) 3 23
  5. 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

Products for EMX2 Gene

Sources for EMX2 Gene

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