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Otx2 Gene Detail
Summary
  • Symbol
    Otx2
  • Name
    orthodenticle homeobox 2
  • Synonyms
    E130306E05Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:97451
    NCBI Gene: 18424
  • Alliance
    genome feature page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:48894238-48905101 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 25.36 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    185 from dbSNP Build 142
  • Strain Annotations
    19
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97451
 protein coding gene Chr14:48894238-48911276 (-)
129S1/SvImJ ENSMUSG00200014585
 protein coding gene Chr14:37732824-37749006 (-)
A/J ENSMUSG00195023887
 protein coding gene Chr14:37938923-37955111 (-)
AKR/J ENSMUSG00220038445
 protein coding gene Chr14:37313330-37329515 (-)
BALB/cJ ENSMUSG00180037467
 protein coding gene Chr14:37547189-37563377 (-)
C3H/HeJ ENSMUSG00175023939
 protein coding gene Chr14:39227564-39243745 (-)
C57BL/6NJ ENSMUSG00215035386
 protein coding gene Chr14:37917060-37933208 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019173
 protein coding gene Chr14:40507557-40517576 (-)
CAST/EiJ ENSTCUG00005009604
 protein coding gene Chr14:39719129-39735376 (-)
CBA/J ENSMUSG00210034288
 protein coding gene Chr14:37872688-37888868 (-)
DBA/2J ENSMUSG00185050617
 protein coding gene Chr14:42646608-42662785 (-)
FVB/NJ ENSMUSG00205029891
 protein coding gene Chr14:37075804-37092042 (-)
JF1/MsJ ENSUMUG00000040173
 protein coding gene Chr14:54692863-54709030 (-)
LP/J ENSMUSG00230051997
 protein coding gene Chr14:54901422-54917576 (-)
NOD/ShiLtJ ENSMUSG00190035701
 protein coding gene Chr14:37549982-37566221 (-)
NZO/HlLtJ ENSMUSG00225048301
 protein coding gene Chr14:45168495-45184721 (-)
PWK/PhJ ENSLUMG00010038702
 protein coding gene Chr14:37145363-37161540 (-)
SPRET/EiJ ENSMSPG00010002955
 protein coding gene Chr14:40498146-40508036 (-)
WSB/EiJ ENSIUOG00005037785
 protein coding gene Chr14:37441399-37457625 (-)



Homology
more
  • Human Ortholog
    OTX2, orthodenticle homeobox 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    OTX2, orthodenticle homeobox 2
  • Synonyms
    CPHD6, MCOPS5
  • Links
    NCBI Gene ID: 5015
    UniProt: P32243

  • Chr Location
    14q22.3; chr14:56799905-56816693 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human OTX2 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
    175 phenotypes from 28 alleles in 14 genetic backgrounds
    117 phenotypes from multigenic genotypes
    114 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.
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 abnormal gonadotrophs.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    77
  • GO References
    31
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
    3330
  • Tissues
    629
  • cDNA Data
    37
  • Literature Summary
    680
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18424 NCBI Gene Model | MGI Sequence Detail 10864 C57BL/6J ±  kb
    transcript NM_001360225 RefSeq | MGI Sequence Detail 2351 ZRU/MplStud  
    polypeptide P80206 UniProt | EBI | MGI Sequence Detail 289 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 177
      Genomic 12
      cDNA 50
      Primer pair 34
      Other 81
      Antibodies 26

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-13087, MGI:2444724
    References
    more
    • Summaries
      All 839
      Developmental Gene Expression 680
      Gene Ontology 31
      Phenotypes 114
    • 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:388885 Lin CY, et al., A 3D amphioxus brain atlas illuminates the blueprint of the ancestral chordate brain and highlights unique vertebrate innovations. Sci Adv. 2026 Jul 3;12(27):eaee5076
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory