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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
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:59447122-59453789 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 56.28 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    126 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95388
 protein coding gene Chr19:59446804-59453789 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025289
 protein coding gene Chr19:59982118-59989066 (+)
A/J MGP_AJ_G0025265
 protein coding gene Chr19:57054607-57061544 (+)
AKR/J MGP_AKRJ_G0025234
 protein coding gene Chr19:58823365-58830302 (+)
BALB/cJ MGP_BALBcJ_G0025260
 protein coding gene Chr19:57120077-57127027 (+)
C3H/HeJ MGP_C3HHeJ_G0025020
 protein coding gene Chr19:59083784-59091448 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025703
 protein coding gene Chr19:61420388-61427434 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023115
 protein coding gene Chr19:55944101-55951141 (+)
CAST/EiJ MGP_CASTEiJ_G0024485
 protein coding gene Chr19:59170886-59177842 (+)
CBA/J MGP_CBAJ_G0025000
 protein coding gene Chr19:64429533-64436514 (+)
DBA/2J MGP_DBA2J_G0025132
 protein coding gene Chr19:56818063-56825350 (+)
FVB/NJ MGP_FVBNJ_G0025093
 protein coding gene Chr19:56543009-56549957 (+)
LP/J MGP_LPJ_G0025218
 protein coding gene Chr19:59847827-59856283 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025126
 protein coding gene Chr19:63629854-63637125 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025761
 protein coding gene Chr19:59075254-59082202 (+)
PWK/PhJ MGP_PWKPhJ_G0024233
 protein coding gene Chr19:56815909-56822907 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024036
 protein coding gene Chr19:57731850-57740606 (+)
WSB/EiJ MGP_WSBEiJ_G0024555
 protein coding gene Chr19:59178110-59185058 (+)



Homology
more
  • Human Ortholog
    EMX2, empty spiracles homeobox 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EMX2, empty spiracles homeobox 2
  • Links
    NCBI Gene ID: 2018
    neXtProt AC: NX_Q04743
    UniProt: Q04743

  • Chr Location
    10q26.11; chr10:117542445-117549546 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human EMX2 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    64 phenotypes from 5 alleles in 7 genetic backgrounds
    48 phenotypes from multigenic genotypes
    90 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
less
  • All GO Annotations
    35
  • GO References
    19
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1741
  • Tissues
    464
  • cDNA Data
    17
  • Literature Summary
    224
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13797 NCBI Gene Model | MGI Sequence Detail 6668 C57BL/6J ±  kb
    transcript NM_010132 RefSeq | MGI Sequence Detail 2598 Not Specified  
    polypeptide Q04744 UniProt | EBI | MGI Sequence Detail 253 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 70
      Genomic 2
      cDNA 21
      Primer pair 17
      Other 30

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-9496, MGI:1890590
    References
    more
    • Summaries
      All 323
      Developmental Gene Expression 224
      Gene Ontology 19
      Phenotypes 90
    • 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:354288 Young CA, et al., A cochlear progenitor pool influences patterning of the mammalian sensory epithelium via MYBL2. Development. 2024 Sep 1;151(17)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory