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OTX2

This gene encodes a member of the bicoid subfamily of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and plays a role in brain, craniofacial, and sensory organ development. The encoded protein also influences the proliferation and differentiation of dopaminergic neuronal progenitor cells during mitosis. Mutations in this gene cause syndromic microphthalmia 5 (MCOPS5) and combined pituitary hormone deficiency 6 (CPHD6). This gene is also suspected of having an oncogenic role in medulloblastoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Pseudogenes of this gene are known to exist on chromosomes two and nine. [provided by RefSeq, Jul 2012]
Full Name
Orthodenticle Homeobox 2
Function
Transcription factor probably involved in the development of the brain and the sense organs. Can bind to the bicoid/BCD target sequence (BTS): 5'-TCTAATCCC-3'.
Biological Process
Axon guidanceManual Assertion Based On ExperimentIDA:UniProtKB
Dopaminergic neuron differentiationManual Assertion Based On ExperimentIGI:ParkinsonsUK-UCL
Forebrain developmentManual Assertion Based On ExperimentTAS:UniProtKB
Midbrain developmentManual Assertion Based On ExperimentTAS:UniProtKB
Positive regulation of embryonic developmentISS:UniProtKB
Positive regulation of gastrulationISS:UniProtKB
Positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of transcription, DNA-templatedISS:UniProtKB
Primitive streak formationISS:UniProtKB
Protein-containing complex assemblyManual Assertion Based On ExperimentIDA:UniProtKB
Regulation of fibroblast growth factor receptor signaling pathwayManual Assertion Based On ExperimentTAS:UniProtKB
Regulation of smoothened signaling pathwayManual Assertion Based On ExperimentTAS:UniProtKB
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Cellular Location
Nucleus
Involvement in disease
Microphthalmia, syndromic, 5 (MCOPS5):
Patients manifest unilateral or bilateral microphthalmia/clinical anophthalmia and variable additional features including pituitary dysfunction, coloboma, microcornea, cataract, retinal dystrophy, hypoplasia or agenesis of the optic nerve, agenesis of the corpus callosum, developmental delay, joint laxity, hypotonia, and seizures. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.
Pituitary hormone deficiency, combined, 6 (CPHD6):
Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD6 patients manifest neonatal hypoglycemia, and deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone.
Retinal dystrophy, early-onset, with or without pituitary dysfunction (RDEOP):
An autosomal dominant ocular disease characterized by pattern dystrophy of the retinal pigment epithelium, and photoreceptor degeneration. Mild developmental anomalies include optic nerve head dysplasia, microcornea, and Rathke's cleft cyst. Some patients manifest pituitary dysfunction.

Anti-OTX2 antibodies

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Target: OTX2
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 1F7
Application*: IP, M
Target: OTX2
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 1E10
Application*: IP, M
Target: OTX2
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat, Monkey, Chicken, Cattle, Guinea pig, Horse
Clone: D7Y3J
Application*: WB
Target: OTX2
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBXO-0443
Application*: E, WB
Target: OTX2
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXO-0442
Application*: IC, IF, IH, WB
Target: OTX2
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXO-0441
Application*: F, IC, IF, IH, WB
Target: OTX2
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXO-0229
Application*: E, IH, WB
Target: OTX2
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXO-0228
Application*: E, F, IH, WB
Target: OTX2
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXO-0476
Application*: WB
Target: OTX2
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: CBXO-0138
Application*: WB
Target: OTX2
Host: Mouse
Specificity: Human
Clone: CBXO-0328
Application*: WB, IP, IF, E
Target: OTX2
Host: Rabbit
Specificity: Human, Mouse, Rat, Monkey, Chicken, Cattle, Guinea pig, Horse
Clone: CBXO-0425
Application*: WB
Target: OTX2
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: CBXO-0448
Application*: F, IC, IF, WB
Target: OTX2
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: BA0237
Application*: WB
Target: OTX2
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 1313CT817.185.162
Application*: WB
Target: OTX2
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 1H12C4B5
Application*: WB, IF, IC, IH, F
Target: OTX2
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: 14H14L5
Application*: F, IF, WB
Target: OTX2
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat
Clone: BA0193
Application*: P, IP, WB
More Infomation
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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