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Emx2 Gene Detail
Summary
  • Symbol
    Emx2
  • Name
    empty spiracles homeobox 2
  • Synonyms
    Pdo
  • Feature Type
    protein coding gene
  • IDs
    MGI:95388
    NCBI Gene: 13797
  • Gene Overview
    MyGene.info: EMX2
Location & Maps
more
  • Sequence Map
    Chr19:59458372-59465357 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      6986 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 56.28 cM
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    EMX2, empty spiracles homeobox 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EMX2, empty spiracles homeobox 2
    Orthology source: HomoloGene
  • Links
    NCBI Gene ID: 2018
    neXtProt AC: NX_Q04743

  • Chr Location
    10q26.1; chr10:117542445-117549546 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 3023
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: EMX2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human EMX2 associations

Human Disease Mouse Models
       Schizencephaly   OMIM: 269160
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    54 phenotypes from 5 alleles in 6 genetic backgrounds
    49 phenotypes from multigenic genotypes
    60 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Chemically induced (ENU)
    2
  • Targeted
    6
  • Transgenic
    1
  • Incidental Mutations
Homozygous disruption of this gene causes neonatal death, impaired urogenital development and malformation of several forebrain regions. Heterozygotes for a null allele show middle and inner ear defects. Homozygotes for an ENU-induced allele die neonatally with middle ear defects and small kidneys.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000037270 VEGA Gene Model | MGI Sequence Detail 6986 C57BL/6J ±  kb
transcript OTTMUST00000096129 VEGA | MGI Sequence Detail 2916 Not Applicable  
polypeptide OTTMUSP00000053670 VEGA | MGI Sequence Detail 253 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    52 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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Molecular
Reagents
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  • All nucleic 40
    Genomic 1
    cDNA 18
    Primer pair 7
    Other 14

    Microarray probesets 2
Other
Accession IDs
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MGD-MRK-9496, MGI:1890590
References
more
  • Summaries
    All 250
    Developmental Gene Expression 182
    Gene Ontology 14
    Phenotypes 60
  • Earliest
    J:1461 Simeone A, et al., Two vertebrate homeobox genes related to the Drosophila empty spiracles gene are expressed in the embryonic cerebral cortex. EMBO J. 1992 Jul;11(7):2541-50
  • Latest
    J:230653 Grego-Bessa J, et al., The tumor suppressor PTEN and the PDK1 kinase regulate formation of the columnar neural epithelium. Elife. 2016;5

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory