InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: OTX2

Summary

InnateDB Protein

IDBP-7553.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

OTX2

Protein Name

orthodenticle homeobox 2

Synonyms

CPHD6; MCOPS5;

Species

Homo sapiens

Ensembl Protein

ENSP00000343819

InnateDB Gene

IDBG-7551 (OTX2)

Protein Structure

UniProt Annotation

Function

Probably plays a role in the development of the brain and the sense organs. Can bind to the BCD target sequence (BTS): 5'-TCTAATCCC-3'.

Subcellular Localization

Nucleus {ECO:0000305}.

Disease Associations

Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125]: 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. {ECO:0000269PubMed:15846561, ECO:0000269PubMed:20396904}. Note=The disease is caused by mutations affecting the gene represented in this entry.Pituitary hormone deficiency, combined, 6 (CPHD6) [MIM:613986]: 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. {ECO:0000269PubMed:18728160}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in brain.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	9 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0008190	eukaryotic initiation factor 4E binding
GO:0043565	sequence-specific DNA binding
GO:0046982	protein heterodimerization activity

Biological Process

GO:0001708	cell fate specification
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0006461	protein complex assembly
GO:0007275	multicellular organismal development
GO:0007411	axon guidance
GO:0007417	central nervous system development
GO:0007492	endoderm development
GO:0008589	regulation of smoothened signaling pathway
GO:0009887	organ morphogenesis
GO:0009952	anterior/posterior pattern specification
GO:0009953	dorsal/ventral pattern formation
GO:0022037	metencephalon development
GO:0030154	cell differentiation
GO:0030182	neuron differentiation
GO:0030900	forebrain development
GO:0030901	midbrain development
GO:0032525	somite rostral/caudal axis specification
GO:0040019	positive regulation of embryonic development
GO:0040036	regulation of fibroblast growth factor receptor signaling pathway
GO:0042472	inner ear morphogenesis
GO:0042706	eye photoreceptor cell fate commitment
GO:0045165	cell fate commitment
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048663	neuron fate commitment
GO:0048664	neuron fate determination
GO:0048852	diencephalon morphogenesis
GO:0048856	anatomical structure development
GO:0090009	primitive streak formation
GO:2000543	positive regulation of gastrulation

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0030426	growth cone
GO:0043234	protein complex

Protein Structure and Domains

PDB ID

InterPro

IPR001356 Homeobox domain
IPR003022 Transcription factor Otx2
IPR003025 Transcription factor Otx
IPR009057 Homeodomain-like
IPR013851 Transcription factor Otx, C-terminal

PFAM

PF00046
PF03529

PRINTS

PR01257
PR01255

PIRSF

SMART

SM00389

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt