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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
    gene 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
    18
  • 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 MGP_129S1SvImJ_G0021227
 protein coding gene Chr14:42519855-42529908 (-)
A/J MGP_AJ_G0021176
 protein coding gene Chr14:41190207-41201000 (-)
AKR/J MGP_AKRJ_G0021154
 protein coding gene Chr14:42797138-42807146 (-)
BALB/cJ MGP_BALBcJ_G0021179
 protein coding gene Chr14:41242066-41252330 (-)
C3H/HeJ MGP_C3HHeJ_G0020962
 protein coding gene Chr14:42581939-42591947 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021614
 protein coding gene Chr14:44278202-44290167 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019173
 protein coding gene Chr14:40507557-40517576 (-)
CAST/EiJ MGP_CASTEiJ_G0020488
 protein coding gene Chr14:39722667-39732733 (-)
CBA/J MGP_CBAJ_G0020929
 protein coding gene Chr14:45701541-45711550 (-)
DBA/2J MGP_DBA2J_G0021052
 protein coding gene Chr14:41071998-41082000 (-)
FVB/NJ MGP_FVBNJ_G0021037
 protein coding gene Chr14:40812447-40822425 (-)
LP/J MGP_LPJ_G0021121
 protein coding gene Chr14:42765756-42776538 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021062
 protein coding gene Chr14:45010068-45021225 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021647
 protein coding gene Chr14:42334981-42346899 (-)
PWK/PhJ MGP_PWKPhJ_G0020236
 protein coding gene Chr14:37967934-37978227 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020061
 protein coding gene Chr14:38468241-38480175 (-)
WSB/EiJ MGP_WSBEiJ_G0020544
 protein coding gene Chr14:42443059-42454382 (-)



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
    neXtProt AC: NX_P32243
    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
    109 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
    68
  • GO References
    28
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
    3044
  • Tissues
    598
  • cDNA Data
    32
  • Literature Summary
    645
  • 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 142
      Genomic 12
      cDNA 45
      Primer pair 23
      Other 62

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-13087, MGI:2444724
    References
    more
    • Summaries
      All 777
      Developmental Gene Expression 645
      Gene Ontology 28
      Phenotypes 109
    • 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:354234 Makhlouf A, et al., Integrin signaling in pluripotent cells acts as a gatekeeper of mouse germline entry. Sci Adv. 2024 Sep 6;10(36):eadk2252
    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
    11/19/2024
    MGI 6.24     		The Jackson Laboratory