Homo sapiens Gene: OTX2
Summary
InnateDB Gene IDBG-7551.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol OTX2
Gene Name orthodenticle homeobox 2
Synonyms CPHD6; MCOPS5;
Species Homo sapiens
Ensembl Gene ENSG00000165588
Encoded Proteins
orthodenticle homeobox 2
orthodenticle homeobox 2
orthodenticle homeobox 2
orthodenticle homeobox 2
orthodenticle homeobox 2
orthodenticle homeobox 2
orthodenticle homeobox 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:56799905-56810479
Strand Reverse strand
Band q22.3
Transcripts
ENST00000339475 ENSP00000343819
ENST00000408990 ENSP00000386185
ENST00000555006 ENSP00000452336
ENST00000554788 ENSP00000474486
ENST00000554845 ENSP00000451357
ENST00000554559 ENSP00000450468
ENST00000555804 ENSP00000451272
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:0006355 regulation of transcription, DNA-templated
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Cross-References
SwissProt P32243
TrEMBL F1T0D0 G3V3J3
UniProt Splice Variant
Entrez Gene 5015
UniGene Hs.709117
RefSeq NM_172337 NM_001270525 NM_021728 NM_001270524 NM_001270523
HUGO HGNC:8522
OMIM 600037
CCDS CCDS41960 CCDS9728
HPRD 07190
IMGT
EMBL AB037505 AB593057 AF093138 AF298117 AK314271 AL161757 BC032579 CH471061
GenPept AAD31385 AAG16243 AAH32579 BAA90425 BAG36932 BAJ84004 EAW80692
RNA Seq Atlas 5015