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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
  • Alliance
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, HGNC
  • Links
    NCBI Gene ID: 2018
    neXtProt AC: NX_Q04743
    UniProt: Q04743

  • Chr Location
    10q26.11; chr10:117542445-117549546 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 3023
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: EMX2
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    63 phenotypes from 5 alleles in 7 genetic backgrounds
    49 phenotypes from multigenic genotypes
    67 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.
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 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
  • Comparison Matrix
  • 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
    less
    Molecular
    Reagents
    less
    • All nucleic 41
      Genomic 1
      cDNA 18
      Primer pair 7
      Other 15

      Microarray probesets 2
    Other
    Accession IDs
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    MGD-MRK-9496, MGI:1890590
    References
    more
    • Summaries
      All 273
      Developmental Gene Expression 196
      Gene Ontology 14
      Phenotypes 67
    • 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:257035 Kim YJ, et al., WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. EMBO Rep. 2018 Feb;19(2):269-289

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory