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Otx2 Gene Detail
Summary
  • Symbol
    Otx2
  • Name
    orthodenticle homolog 2
  • Synonyms
    E130306E05Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:97451
    NCBI Gene: 18424
Location & Maps
more
  • Sequence Map
    Chr14:48657679-48667644 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      9966 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    OTX2, orthodenticle homeobox 2
  • Vertebrate Orthologs
    7
  • Human Ortholog
    OTX2, orthodenticle homeobox 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CPHD6, MCOPS5
  • Links
    NCBI Gene ID: 5015
    neXtProt AC: NX_P32243

  • Chr Location
    14q22.3; chr14:56800707-56810476 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human OTX2 associations

Human Disease Mouse Models
       Microphthalmia, Syndromic 5; MCOPS5   OMIM: 610125
Pituitary Hormone Deficiency, Combined, 6; CPHD6   OMIM: 613986
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    180 phenotypes from 36 alleles in 15 genetic backgrounds
    93 phenotypes from multigenic genotypes
    82 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    54
  • Chemically induced (other)
    1
  • Gene trapped
    14
  • Targeted
    37
  • Transgenic
    2
  • Genomic Mutations
    1 involving Otx2
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit embryonic lethality during organogenesis due to abnormal gastrulation and embryonic patterning in the brain and heart. Mice heterozygous for another knock-out allele exhibit female-specific lethality, reduced male fertility and abnoral gonadotrophs.
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 OTTMUSG00000032534 VEGA Gene Model | MGI Sequence Detail 9966 C57BL/6J ±  kb
transcript OTTMUST00000080958 VEGA | MGI Sequence Detail 1708 Not Applicable  
polypeptide OTTMUSP00000043186 VEGA | MGI Sequence Detail 297 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    63 from dbSNP Build 137
  • PCR
Protein
Information
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Molecular
Reagents
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  • All nucleic 97
    Genomic 12
    cDNA 33
    Primer pair 19
    Other 33

    Microarray probesets 2
Other
Accession IDs
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MGD-MRK-13087, MGI:2444724
References
more
  • Summaries
    All 533
    Developmental Gene Expression 446
    Gene Ontology 24
    Phenotypes 82
  • Earliest
    J:2076 Simeone A, et al., Nested expression domains of four homeobox genes in developing rostral brain [see comments]. Nature. 1992 Aug 20;358(6388):687-90
  • Latest
    J:227021 Mallika C, et al., Gbx2 is essential for maintaining thalamic neuron identity and repressing habenular characters in the developing thalamus. Dev Biol. 2015 Nov 1;407(1):26-39

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory