Otx2 Gene Summary [Mouse]
This gene encodes a protein that belongs to the homeobox family of transcription factors. The encoded protein plays a role in the development and patterning of the head. This protein regulates development of the choroid plexuses in the brain affecting composition of cerebrospinal fluid in the developing brain and is thought to function in the development of sense organs in the embryo. In humans, mutations in this gene are associated with pituitary hormone deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2013]
Details
| Type | Protein Coding |
| Official Symbol | Otx2 |
| Official Name | orthodenticle homeobox 2 [Source:MGI Symbol;Acc:MGI:97451] |
| Ensembl ID | ENSMUSG00000021848 |
| Bio databases IDs | |
| Aliases | orthodenticle homeobox 2 |
| Synonyms | CPHD6, E130306E05Rik, LOC100911492, MCOPS5, orthodenticle homeobox 2 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Otx2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- DNA binding domain
- nucleic acid binding
- double-stranded DNA binding
- Otx1 transcription factor
- protein binding
- sequence-specific DNA binding
- homeodomain
- transcription factor activity
- eukaryotic initiation factor 4E binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- aphakia
- early-onset retinal dystrophy without pituitary dysfunction
- neuronal migration disorder
- acephaly
- hyperplasia
- syndromic anophthalmia and microphthalmia
- 46 XY partial gonadal dysgenesis
- combined pituitary hormone deficiency type 6
- hypoplasia
phenotypes
- abnormal Meckel's cartilage morphology
- abnormal adenohypophysis morphology
- abnormal alisphenoid bone morphology
- abnormal allantois morphology
- abnormal amnion morphology
- abnormal anterior eye segment morphology
- abnormal anterior head development
- abnormal axial mesoderm morphology
- abnormal basisphenoid bone morphology
- abnormal brain development
- abnormal cephalic neural fold morphology
- abnormal cerebral cortex morphology
- abnormal ciliary ganglion morphology
- abnormal cone electrophysiology
- abnormal craniofacial development
- abnormal craniofacial morphology
- abnormal cranium morphology
- abnormal developmental patterning
- abnormal diencephalon morphology
- abnormal ectoderm development
- abnormal embryo development
- abnormal embryonic neuroepithelium morphology
- abnormal embryonic tissue morphology
- abnormal extraocular muscle morphology
- abnormal eye distance/ position
- abnormal eye morphology
- abnormal eyelid morphology
- abnormal facial morphology
- abnormal first pharyngeal arch morphology
- abnormal forebrain development
- abnormal forebrain morphology
- abnormal gastrulation
- abnormal gonadotroph morphology
- abnormal head morphology
- abnormal hindbrain development
- abnormal hindbrain morphology
- abnormal horizontal cell morphology
- abnormal incus morphology
- abnormal inferior colliculus morphology
- abnormal iris morphology
- abnormal malleus morphology
- abnormal mandible morphology
- abnormal maxillary prominence morphology
- abnormal mesendoderm development
- abnormal mesoderm development
- abnormal metencephalon morphology
- abnormal midbrain development
- abnormal midbrain morphology
- abnormal midbrain-hindbrain boundary development
- abnormal midbrain-hindbrain boundary morphology
- abnormal motor capabilities/coordination/movement
- abnormal nasal capsule morphology
- abnormal nasal cavity morphology
- abnormal nasal septum morphology
- abnormal nervous system development
- abnormal neural tube morphology
- abnormal notochord morphology
- abnormal oculomotor nerve morphology
- abnormal olfactory epithelium morphology
- abnormal optic nerve morphology
- abnormal palate morphology
- abnormal presphenoid bone morphology
- abnormal pretectal region morphology
- abnormal primitive node morphology
- abnormal primitive streak elongation
- abnormal primitive streak formation
- abnormal pterygoid bone morphology
- abnormal retina morphology
- abnormal retinal bipolar cell morphology
- abnormal retinal layer morphology
- abnormal retinal pigment epithelium morphology
- abnormal rod electrophysiology
- abnormal rostral-caudal axis patterning
- abnormal sclera morphology
- abnormal snout morphology
- abnormal somite development
- abnormal somite shape
- abnormal temporal bone tympanic part morphology
- abnormal third ventricle morphology
- abnormal trigeminal V mesencephalic nucleus morphology
- abnormal trigeminal nerve morphology
- abnormal trochlear nerve morphology
- abnormal visceral yolk sac endoderm morphology
- abnormal visceral yolk sac mesenchyme morphology
- abnormal visceral yolk sac morphology
- abnormal vomeronasal organ morphology
- absent choroid plexus
- absent cornea
- absent diencephalon
- absent embryonic telencephalon
- absent forebrain
- absent foregut
- absent heart
- absent mandible
- absent mandibular coronoid process
- absent maxilla
- absent metencephalon
- absent midbrain
- absent nasal capsule
- absent nasal placodes
- absent nasal septum
- absent nasopharynx
- absent olfactory bulb
- absent optic vesicle
- absent orbitosphenoid bone
- absent pharyngeal arches
- absent pituitary gland
- absent prechordal mesoderm
- absent tongue
- absent vomeronasal organ
- acephaly
- anencephaly
- aniridia
- anophthalmia
- aphakia
- basisphenoid bone foramen
- decreased body size
- decreased circulating luteinizing hormone level
- decreased embryo size
- decreased embryonic neuroepithelium thickness
- decreased forebrain size
- decreased gonadotroph cell number
- decreased litter size
- decreased midbrain size
- decreased retinal cone cell number
- decreased retinal ganglion cell number
- decreased retinal photoreceptor cell number
- decreased testis weight
- decreased visual acuity
- embryonic growth arrest
- embryonic growth retardation
- embryonic lethality during organogenesis complete penetrance
- embryonic-extraembryonic boundary constriction
- exencephaly
- forebrain hypoplasia
- fused somites
- holoprosencephaly
- impaired somite development
- microcephaly
- micrognathia
- microphthalmia
- midbrain hypoplasia
- neonatal lethality complete penetrance
- neonatal lethality incomplete penetrance
- no abnormal phenotype detected
- open neural tube
- otocephaly
- perinatal lethality incomplete penetrance
- postnatal lethality complete penetrance
- postnatal lethality incomplete penetrance
- premature death
- prenatal lethality complete penetrance
- preweaning lethality incomplete penetrance
- reduced fertility
- reduced male fertility
- retinal pigment epithelium hyperplasia
- rostral body truncation
- short snout
- small cranium
- small heart
- small mandible
- thin retinal inner nuclear layer
- thin retinal outer nuclear layer
role in cell
- apoptosis
- differentiation
- activation in
- expression in
- quantity
- growth
- transcription in
- proliferation
- binding in
- cytotoxicity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- vesicles
- nucleoplasm
- growth cone
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Otx2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of fibroblast growth factor receptor signaling pathway
- macromolecular complex assembly
- axon guidance
- positive regulation of transcription from RNA polymerase II promoter
- positive regulation of embryonic development
- regulation of transcription from RNA polymerase II promoter
- regulation of smoothened signaling pathway
- midbrain development
- forebrain development
- dopaminergic neuron differentiation
- positive regulation of transcription, DNA-dependent
- positive regulation of gastrulation
- primitive streak formation
Cellular Component
Where in the cell the gene product is active
- growth cone
- nucleus
- macromolecular complex
- chromatin
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- eukaryotic initiation factor 4E binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity