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Tbio
OTX2
Homeobox protein OTX2

Protein Summary
Description
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'. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000339475
  • ENSP00000343819
  • ENSG00000165588
  • ENST00000408990
  • ENSP00000386185
  • ENST00000555006
  • ENSP00000452336

Symbol
  • CPHD6
  • MCOPS5
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
molecular function
0.88
protein domain
0.85
phenotype
0.79
biological process
0.71
gene perturbation
0.68


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 436.14   (req: < 5)
Gene RIFs: 69   (req: <= 3)
Antibodies: 368   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 436.14   (req: >= 5)
Gene RIFs: 69   (req: > 3)
Antibodies: 368   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 16
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (3)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
alcohol consumption measurement
4
3
4
90.7
mathematical ability
1
1
1
83
self reported educational attainment
1
1
1
83
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
alcohol consumption measurement
4
90.7
mathematical ability
1
83
self reported educational attainment
1
83
Orthologs (10)
1 – 5 of 10
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
orthodenticle homeobox 2
VGNC:3341
452927
Mouse
MGI:97451
18424
Dog
orthodenticle homeobox 2
VGNC:44194
490708
Horse
orthodenticle homeobox 2
VGNC:21095
100050678
Cow
orthodenticle homeobox 2
VGNC:32503
538953
Species
Name
OMA
EggNOG
Inparanoid
Chimp
orthodenticle homeobox 2
Mouse
Dog
orthodenticle homeobox 2
Horse
orthodenticle homeobox 2
Cow
orthodenticle homeobox 2
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-P32243-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (3)
Items per page:
1 – 3 of 3
Data Source
Name
Explore in Pharos
Explore in Source
WikiPathways
TP53 Network
WikiPathways
Dopaminergic Neurogenesis
WikiPathways
Endoderm Differentiation
Name
Explore in Pharos
Explore in Source
TP53 Network
Dopaminergic Neurogenesis
Endoderm Differentiation
Gene Ontology Terms (19)
Items per page:
10
1 – 4 of 4
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
NTNU_SB
Inferred from Sequence Alignment (ISA)
NTNU_SB
Traceable Author Statement (TAS)
UniProtKB
Protein-Protein Interactions (204)
1 – 10 of 204
FGF8
Tbio
Novelty: 0.00155113
Score: 0.88
Data Source: STRINGDB
FOXA2
Tbio
Family: TF
Novelty: 0.00244521
Score: 0.864
Data Source: STRINGDB
SIX3
Tbio
Family: TF
Novelty: 0.00599946
Score: 0.855
Data Source: STRINGDB
SOX2
Tbio
Family: TF
Novelty: 0.00037089
Score: 0.851
Data Source: STRINGDB
WNT1
Tbio
Novelty: 0.00124301
Score: 0.847
Data Source: STRINGDB
SIX6
Tbio
Family: TF
Novelty: 0.01261784
Score: 0.834
Data Source: STRINGDB
PAX2
Tbio
Family: TF
Novelty: 0.00160808
Score: 0.815
Data Source: STRINGDB
ISL1
Tbio
Family: TF
Novelty: 0.00169431
Score: 0.802
Data Source: STRINGDB
POU5F1
Tbio
Family: TF
Novelty: 0.00033974
Score: 0.786
Data Source: STRINGDB
FOXG1
Tbio
Family: TF
Novelty: 0.00154897
Score: 0.775
Data Source: STRINGDB
Publication Statistics
PubMed Score  436.14

PubMed score by year
PubTator Score  151.77

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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